PART 27. The Nervous system
CHAP 541. Neurologic Evaluation
History
1) Chief complaint and history of present illness
2) Review of the pregnancy, labor, and delivery (birthweight, length, head circumference and Apgar score)
3) Review of newborn period
4) *Children development assessment
; the most important component
- global delay in language
- gross and fine motor or social skills
- delay in a particular subset of development
Table 541-1
5) Family history
; epilepsy, migraine, cerebrovascular accidents, and heredofamiIial disorders
sex and age at death of miscarriages or live-born siblings
6) Child`s performance in school
Child`s personality before and after the onset of symptom
Neurologic exam.
The Head
1. size and shape of the head
2. fontanels
3. palpation
4. auscultation of skull
5. transillumination
6. measurement of head circumference
Size and shape of the head
; tower head or oxycephalic skull
- premature closure of sutures
- associated with various forms of inherited craniosynostosis)
; broad forehead
- hydrocephalus
; small head
- microcephalus
; *square or box-shaped skull
- chronic subdural hematoma
; marked venous distention on scalp
- IICP & thrombosis of sup. sagittal sinus
Fontanels
1) ant. fontanels
; usual 2x2cm(variable)
; average time of closure
- 18months ( normaily close as early as 9-12mon.)
; very small or absent ant. fontanel at birth
- premature fusion of the suture of microcephaly
; large fontanels
Table 79-1
2) posterior fontanels
; closed & nonpalpable beyond the first 6-8 wk
; persistence
- underlying hydrocephalus, congenital hypothyroidism
; bulging fontanel
- IICP(vigorous crying 제외)
# fontanel is normally slightly depressed and pulsatile and is best evaluated when infant is held upright and is asleep or feeding
Palpation
* craniotabes- peculiar softening of the parietal bone
gentle pressure시 ping-pong ball sensation
often associated with prematurity
* overiding of cranial suture ;생후 수 일 내 정상적 소견
-> 이후 underlying abnormality of brain 암시
Auscultation of skull
#
★cranial bruits
;
*▲ prominant over anterior fontanel, temporal region, the orbits
; best heard by diaphragm of the stethoscope
; loud or localized bruit --> significant & warrants further investigation
; soft symmetric bruits
- in normal children less than 4yr /c febrile illness.
; loud bruit
- Arteriovenous malformations of the middle cerebral artery or vein of Galen
- transmitted to the cranium by murmurs arising from heart or great vv.
- severe anemia
- IICP
/hydrocephalus,tumor,subdural effusions, or purulent meningitis
Transillumination
; examed in dark room with bright flashlight
;
※82주
greater transllumination
- newborn or premature infant
;
※82주
asymmetric, localized, or diffuse transilltlmination
- hydranencephaly
- marked hydrocephalus with a thin cortical mantle
- porencephalic or arachnoid cyst
- Dandy-Walker syndrome
- subdural effusions complicating meningitis
; decrease transillumination
- acute subdural hematomas
Measurement of head circumference
(모든 환자에서 매 방문시 마다 기록)
* midforehead- most prominent portion of the occiput 포함해 greatest
volume 측정
* average rate of head growth in a healthy prematurity
; 0.5cm/1st 2wk.
0.75cm/3rd wk.
1cm/4th wk.------ 40wks.
* term at birth 34-35cm
6mon. 44cm
1year 47cm
* error in newborn skull 측정
원인; scalp edema
over-riding of suture
i.v. fluid infiltration
cephalohematoma
Cranial nerve
Olfactory n.
1. transient anosmia, loss of smell-asso. with URI;most common
2. fracture of the base of the skull & cribriform plate, frontal lobe
tumor-anosmia
3. recovers from purulent meningitis,hydrocephalus- sense of smell 감소
4. congenital anosmia-rare
Optic n.
# papilledema fig. 541-1
1. optic nerve becomes hyperemic.
2. small capillaries are no longer visualized as they become
constricted.
3. larger veins become dilated & the accompanying arterioles become
constricted.
4. border of the optic nerve becomes indistinct from the surrounding
retina
(particularly along the temporal edge)
5. Subhyaloid, flame-shaped hemorrhages appear in the retina
surrounding the optic nerve.
6. macular star due to retinal edema in macula.
|
acute papilledema |
optic neuritis |
V.A |
intact |
impaired |
color vision |
intact |
impaired |
blind spots |
increase |
increase |
# retinal hemo. ;30-40% of all full term
vag. delivery > C/S
not asso. with birth inj. & neurologic Cx.
1-2wk.--------spontaneous disappear
Vision
; 28wks premature
- blinks when bright light
; 37wks preterm
- turns head, eyes to a soft light
; *term
-
visual fixation
; visual acuity
- term infant : 20/150
--> 6mo : 20/20 of adult level
1. drug
2. space-occupying brain lesion
3. metabolic disorder
4. abnormalities of the midbrain and optic nerves
#
♥Horner syndrome
; miosis, ptosis, enophthalmos, ipsilat. anhydrosis of face
; cause
- congenital or acquired
- lesion involving the sympathetic nervous system in the brain stem, cervical spinal cord
- lesion involving sympathetic plexus in juxtaposition to the carotid artery
Oculomotor, Trochlear, Abducens nerves
# EOM(Extraocular m.)innervation
1) III.(oculomotor)
-> sup.rectus
inf.rectus
med.rectus
inf.oblique
levator palpabra
superioris m.
2) IV.(trochlear)
-> sup.oblique m.
3) VI.(abducens)
-> lat.rectus m.
# red glass test; assess extraocular palsy in old children
* intranuclear ophthalmoplegia
; lesion in brain stem
; paralysis of med. rectus function of the adducting eye & nystagmus confined to abducting eye
* internal ophthalmoplegia
; dilated pupil that is unresponsive to light & accomodation
; normal EOM function
* external ophthalmoplegia
; ptosis & paralysis of all eye muscles with preservation of pupillary response
# nystagmus; involuntary rapid eye movement
종류-1. horizontal n.; pph.labyrinth or br. stem,cbll.의 vestibular
system, drug(esp.phenytoin)
2. vertical n.; brain stem dysfunction
3. rotatory n.
4. pedunlar n.
5. mixed n.
* Doll`s eye maneuver
; complete movement as early as *25wks of gestation
; infant, or the uncooperative or comatose patient에서 horizontal & vertical movement 검사
Trigemial n.
1. sensory distribution of face
-> 3 area로 divided
1) ophthaimic area
2) maxillary area
3) mandibular area.
-light touch,pinprick test,corneal response로 test
# premature baby에서 trigemial n. function test
; facial grimacing from a pinprick
stimulating the nostril with a cotton tip
2. motor function
1) exam of massetars, pterygoid, temporalis muscles during mastication
2) jaw jerk evaluation
Facial n.
UMN.(supranuclear) lesion
-- decrease voluntary movement of lower face
flattening of nasolabial angle on ipsilat. side
LMN. lesion
-- equally involve upper & lower facial m.
# taste for ant. 2/3 of tongue
# facial n. paralysis 원인
1. congenital
2. secondary to trauma,infection,intracranial tm.,toxins,
myasthenia gravis,hypertenaion
Auditory n.
# audiometry or brain-stem evoked potential test
-- hearing loss가 suspect되는 any child에게 필수적
# 3mo
; head toward a bell, rattle, crumpled paper
♥ Risk factors need for
hearing testing
1. FHx. of deafness
2. prematurity
3. severe asphxia
4. use of ototoxic drugs in newborn period
5. hyperbilirubinemia
6. bacterial meningitis
7. congenital infection due to rubella, toxoplasmosis, herpes, CMV(TORCH)
8. congenital anomaly of the head,neck
# vestibular function test-- caloric test
comatose patient; ice water 0.5cc
alert awake patient; ice water 0.5cc
- ext. auditory canal로 주입(head elevation 30도)
1) 정상;opposite direction으로 nystagmus의 quick component 발생
2) no response; severe dysfunction of brain stem & med. longitudinal
fasciculus
CIx.;TM rupture
Glossopharyngeal n.
- innervation to the stylopharynoeus muscle
# test; 1. gag response to tactilc stimulation of the posterior pharyngeal wall
2. taste for post 1/3 of tongue
Vagus n.
1. unilateral injury
1) weakness and asymmetry of the ipsilateral soft palate
2) hoarse voice due to paralysis of a vocal cord
2. bilateral lesion
1) respiratory distress
2) nasal regurgitation of fluid
3) pooling of secretion
4) immobile, low-lying soft palate
# isolated lesion의 원인
1) postop.(thoracotomy)
2) type II Chiari malformation
Accessory n.
; sternomastoid and trapezius muscles의 paralysis and atrophy 일으키는 원인
1. lesions of the accessory nerve
2. motor neuron disease
3. myotonic dystrophy
4. myasthenia gravis
Hypoglossal n.
--> tongue innervates; motility,size,shape,atrophy or fascicu]ations 유무 평가
malfunction--> wasting, weakness, and fasciculations of the tongue
bilat.injury--> tongue protrusion 불가능
dysphasia
# principle causes of hypoglossal nerve involvement.
1. Werdnig-Hoffmann disease(infantile spinal muscular atrophy)
2. congenital anomalies in the region of the foramen magnum
Motor exam.
Power(strength)
♥ Grade
0 = no movement,
1 = minimal'contraction
2 = movement only in the horizontal plane (with gravity)
3 = movement against gravity
4 = movement against gravity and resistance
5 = normal strength
# Gowers' sign (Fig. 541-2)
; weakness in pelvic girdle & proximal lower extremity muscles
Tone
# neonate
; scarf sign
; popliteal angle
※95객 Spasticity
; clasp-knife phenomenon
- *initial resistance to passive movement followed by sudden release
; more apparent in upper extremity flexors and lower extremity extensor muscles
;
*associated with brisk tendon
reflexes, extensor plantar reflex, clonus, diminished active movements, disuse
atrophy
;
*UMN diseases
Clonus
; sudden dorsiflexion of the foot with knee partially flexed
; in newborn
-
*normal unless asymmetric
Rigidity
;
*basal ganglia lesion
;
constant resistance to passive movement of *both
extensor & flexor m.
;
★cogwheel sensation
Opisthonus
Decerebrate Rigidity
Hypotonia
;
*▲ abnormal tone in preterm or full-term
; pathology of cbr., cbll., spinal cord, ant. horn cell, pph. n., myoneuronal junction, muscle
; floppy
; frog-leg posture
Motility And Locomotion
# cerebellar lesion
; ataxia
- incoordination of movement or a disturbance of balance
- truncal ataxia
/ cerebellar vermis lesion
/ unsteadiness during sitting or standing
- demonstrated by the finger-to-nose, heel-to-shin tests, heel-to-toe or tandem walking
- infant
/ by observation of reaching for or playing with toys
; intention tremor unaffected by visual attention
; dysmetria - errors in measuring distances
; rebound - inability to inhibit a muscular action
; dysdiadochokinesia - diminished performance of rapid alternating movement
; hypotonia
; dysarthria
; nystagmus
; DTR 감소
cf. 32wks 이후 motor activity; 주로 flexor
* Romberg sign
; unsteady with eye closed, but not open
; positive
- sensory ataxia
- lesion in spinal cord & pph. n.
※82,87 Basal Ganglia Lesion
a. chorea
; involuntary rapid & jerky movement the major joints, trunk, the face
; incapable of extending the arms /s abnormal movements
; milkmaid sign
- hand grip contracts and relaxes
; speech is explosive & inarticulate
; tendency to pronate arms when held above head
; “hang up” DTR
b. athetosis
; slow, writhing movement, often associated with abnormality of muscle tone
; prominant in distal ext.
; enhanced by voluntary activity or emotional upset
c. dystonia
; involuntary, slow, twisting movement
; primarily in prox. m. of ext., trunk, neck
DTR & plantar response
# premature infant에서 most reliable DTR
; biceps, knee, and ankle jerks
# absent or decreased DTR
i. primary myopathy
ii. neuropathy
iii. myoneural junction disorder
iv. cerebellar abnormality
# Babinski reflex
# increased DTR; UMN disease
# asymetry of DTR; lateralizing lesion
Primitive reflex
# snout or rooting reflex
; reappear during old age or specific cerebral degenerative disease involving cerebral cortex
#
★▲important primitive reflex
;
*moro, grasp, tonic-neck,
parachute reflexes
# Moro reflex
; asymetric
- clavicle flacture, brachial plexus injury, hemiparesis
;
*absence in term newborn
-
*omnious significant dysfunction
of the CNS
# grasp reflex
# tonic neck reflex
# parachute reflex
Sensory exam.
- spinal cord lesion시 sensory level 결정
Gait & station
# spastic gait; stiffness and by a "tin soldier"-like steppage appearance
# circumduction gait; decreased arm swing on the affected side and a lateral
circular motion of the leg - hemiparesis때 나타남
# cerebellar lesion; ataxic broad-based unsteady gait(tandem gait)
# waddling gait; weakness of the proximal hip girdle때 compensatory 1ordosis
동반
# weakness or hypotonia of the lower extremities; clumsy, tentative gait
# scoliosis; disorders of muscle and spinal cord.
abnormal gait 유발
General Exam.
♥Soft Neurologic Sign
; *particular
form of deviant performance on a motor or sensory test in the neurologic
examination that is abnormal for a particular age
; present in normal children during various stages of neurodevelopment
; testing
- series of timed motor tasks, comparision of quality and precision of patient’s movement with normal controls of similar age and sex
- 종류
/
*repetitive and successive finger
movements, hand pats, arm pronation-supination movements, foot taps, hopping,
tandem walking
; examples
-
*minimal choreoathetoid movements
in finger of extended arm
/
*normal at 4yr of age but
disappear by 7 or 8yr age
; *2 or
more persistent soft neurologic sign
- *correlation with neurologic dysfunctions
/ ADD(attention deficit disorder), learning disorders, cerebral palsy
Special Diagnostic Procedure
Lumbar puncture & CSF exem.
# essential in confirming the diagnosis
1. meningitis
2. encephalitis
3. subarachnoid hemorrhage
# helpful in the evaluation of demyelinating, degenerative, and collagen vascular diseases and the presence of tumor cells within the subarachnoid space
# ideal interspace for lumbar puncture (LP)
; L3-L4 or L4-L5
# normal CSF pressure
;
★100-280mmH2O
; elevated opening pressure
- crying, uncooperative struggling patients
/
*▲common
- IICP
# sick neonates
; upright posion에서 시행
- recumbent position
--> decreased ventilation and perfusion abnormalities
--> respiratory arrest
# ㉿Contraindication
1) IICP owing to a suspected mass
lesion of the brain or spinal cord ---->transtentorial herniation
or herniation of the cbllar tonsills
(LP 시행 전 papilledema 유무 관찰 필수적)
2) Sx. & sg. of pending cerebral herniation with provable meningitis
: decerebrate a decorticate posture, generalized tonic seizure,
abn`l of pupil size & reaction, respiratory abn`l 등
--> immediate AB(iv) start & imaging study (CT)
3) critically ill, moribund patient --> cardiorespratory arrest 가능
4) skin infection at the site of L.P
5) thrombocytopenia ; 20000 이하
#normal CSF cell count
5 lymphoccyte/mm3 이하 & no RBC PMN - abnormal in child
( new born ; 15 lymphocyte/mm3이하 & 1-2 PMN/mm3)
# increase PMN in CSF
1. bacterial meningitis
2. early phase of aseptic meningitis
# increase lymphocyte in CSF
1. aseptic meningtis
Tbc meningtis
fungal meningtis
2. demyelinating disease
3. brain or spinal cord tumor
4. immunologic disorder ( collagen vascular disease )
5. chemical irritation ( postmyelogram, intrathecal MTX )
# Bloody CSF
cf. crenated RBC 존재로 감별
;
★Xanthochromic CSF
- SAH
- *hyperbilirubinemia
- carotenemia
- increased CSF protein
# CSF protein
; 10-40 mg/dl
; neonate 120mg/dl 이하
- 3 개월 이후 10-40mg/dl
; increased protein
- infectious,immunologic,vascular & degenerative ds.
- tm. of brain & spinal cord
- bloody tap (1mg/dl for every 1000 RBC/mm3)
# CSF Ig G
;
*10% of total protein
;
♥Increased IgG
- SSPE
- postinfectious encephalomyelitis
- multiple sclerosis
# CSF glucose
; blood sugar 의 60%
; ★Hypoglucorrhachia
- diffuse meningeal ds. (bacterial & Tbc. meningtis )
- wide spread neoplastic involvement of meninges
- SAH
- fungal meningtis
- aseptic meningtis
Subdural tap
; Ix
- Dx of subdural effusion or hematoma
;
※94
Sites
- lat. border of ant. fontanel
- along upper margin of coronal suture at least 2-3cm from the midline
bilat. subdural tap
; the amount of fluid removed with each tap should be limited to total 15-20ml from each side
- in order to prevent rebleeding from a sudden shift of intracranial content
Ventrcular tap
; conservative measure로 실패한 life threatening increased ICP
ass with hydrocephalus 시
Neuroradiologic procedures
Skull Roentgenogram
# demonstrate 1.fx.
2. intracranial calcification
3. craniosynostosis
4. congenital anomalies
5. bony defects
## 6. evidence of IICP
acute -- suture seperation
chronic -- old children에서 post clinoid proc. erosion
sella turcica enlargement
conventional marking의 증가
(beaten silver appearance)
CT scan
### useful in demonstrating
1. cong. malformation of brain ( hydrocephalus, porencephalic cyst )
2. subdural collection
3. cbr. atrophy
4, intracranial calcification
5. intracranial hematoma
6. brain tumor
7. cbr. edema, infartion, demyelination
8. AV malformation
MRI
장점 ; 1. noninvasive ( no ionizing radiation )
2. neoplasm
cbr. edema
degerative disease
congenital anomaly (particularly of post. fossa & spinal cord)
3. detect small plaques in pt. with multiple sclerosis &
areas of localized gliosis in children with uncontrolled seizure
단점 ; intracbr. calcification detection안됨
Radionuclide Brain Scan
herpes encephalitis & cbr. abscess
PET ( Positron Emission Tomography )
; brain metabolism & perfusion 측정
-- epilepsy, metabolic, neurobehavioral disorder
SPECT ( Single Photon Emission Computerized
Tomography )
; regional cerebral blood flow 측정
; ★Use
- cerebral vascular ds in SLE
- herpes encephalitis
- localization of focal epileptiform discharges
- recurrent brain tumors
Cranial Ultrasound
; fontanel이 patent한 infant에 제한
1.ICH
2.hydrocephalous
3.intracrnial tm.
Myelograph
; congenital anomaly, tumor, vascular malformation of spinal cord
MRA
EEG
# ★frequency에
따라 delta / theta / alpha / beta
1-3 4-7 8-12 13-20/sec
# 영향을 주는 요소
1. age
2. state of alertness
3. eye closure
4. drugs
5. disease state
# ★Normal
Variants Wave
; K complex - high voltage slow & sharp wave
; sleep spindle - regular 12-14/sec
--> confined to central region during sleep
# ★Abnormality
Of Waveform
; spikes and slow waves
- spikes / paroxysmal sharp high voltage followed by a slow wave
; asso. with epilepsy
# focal spikes
; asso. with irritative lesions
- cysts, slow growing tm, glial scar tissue
# focal slow wave
; circumscribed lesions
- hematoma, infartion, localized infectious process
# generalized slow wave
;
*metabolic, inflammatory, more
widespread process
# ★Activation
Procedure Of Epileptiform Activity
1) hyperventilation
2) photic stimulation
3) sleep deprivation
4) eye closure
5) special electrodes placement ( zygomatic lead )
# EEG/polygraphic/video monitoring
1) seizure type 결정에 도움이 됨
2) epileptic seizure & pseudoseizure의 감별 가능
3) quantification of seizure discharge
4) study of efficacy of various therapeutic regimen
5) newborn 에서 physiologic & EEG discharge 함께 record시 seizure 관찰에 유용
Evoked Potentials
; electrical response that follows stimulation of CNS by
specific stimulation of visual, auditory or sensory system
VEP( visual EP)
retina-visual cortex 까지의 visual system involve 하는 경우
abnormal finding 나타남
1. neurodegerative disease
(Tay-sachs,Krabbes,Pelizaeus-merzbacher disease, neuronalceroid
lipofuscinosis)
2. lesions of optic chiasm & n.
3. useful in assessment of visual function in at risk neonates
BAEPs( brain stem auditory EP )
; hearing acuity in neonate, uncooperative child
; neurodegerative disease
; cerebellopontine angle tumor
;
*brain stem function assessment of
comatous patient
-
*약물이나
의식상태에 영향을
받지않기 때문
SSEP( somatosensory EP )
1. determines the functional integrity of the dorsal column-medial
lemniscal system
2. useful in monitoring spinal cord system during op procedure
( scoliosis, COA, myelomeningocele )
3. neurodegenerative disease
4. the most accurate evoked potentials in the assessment of neurologic
outcome following a severe CNS insult
Chapter 542. Congenital Anomaly Of The CNS
542.1 Neural tube defect
( dysraphism )
account for most congenital anomaly of CNS
태생 3-4주경 neural tube 의 spontaneous closure 실패로 인함
( radiation, drug, malnutrition, chemical, genetic determinates )
## 종류
1. spina bifida occulta
2. meningocele
3. meningomyelocele
4. encephalocele
5. anencephaly
6. demal sinus
7. tethered cord
8. syringomyelia
9. diastematomyelia
10. lipoma involving conus medullaris
# biochemical markers of neural tube defects
; 1. AFP -- prenatal screening test of neural tube defects
2. acetylcholinesterase in amniotic fluid
542.2 Spina Bifida Occulta
; *midline
defect of vertebral bodies without protrusion of spinal cord or meninges
; *▲benign form of dysraphism
; *mostly
asymptomatic & no neurologic sign & no consequence
# ♥ Suggestion of spina bifida occulta on lower back
1. patches of hair
2. lipoma
3. discoloration of skin
4. dermal sinus
# spine roentgenogram
; defect in closure of post. vertebral arch & lamina *(esp. L5 & S1)
# ♥ Asso. developemental anomaly of spinal cord
1. syringomyelia
2. diastematomyelia
3. tethered cord
# Dermoid sinus
; small opening in the skin
- narrow duct 형성
; site
- midline at meningocele or encephalocele
- lumbosacral or occipital region
; conduit for infection spread
- recurrent meningitis of occult origin때 의심
542.3 Meningocele
; herniation of meninges through a defect on the post. vertebral arch
; spinal cord ~ normal
; fluctuant midline mass, transillumination (+) in low back with skin covering
# Prior to surgical correction
1. careful neurologic exam
2. plain roentgenogram
3. ultrasound
4. CT scaning with metrozamide or MRI
Treatment
1. delayed surgery
; asymptomatic normal neurologic exam. & full thickness skin covering
★2. immediate surgical treatement
; CSF leakage or thin skin covering (meningitis방지 위해)
# associated anomaly
1. diastematomyelia, tethered spinal cord, lipoma
2. hydrocephalus - brain CT scan
*3. rectovaginal fistula, vaginal septa in female
542.4 Myelomeningocele
; ▲severe form of dysraphism involving vertebral column
; incidence
- 1/1000 live births
Etiology
unknown ; 1. genetic predisposition
2. nutritional & environmental factor
( preconceptual vitamines & folate deficiency )
3. drugs ; valporic acid
Clinical Manifestation
;
*▲common site - lumbosacral region (75%)
# low sacral lesion
;
*bowel & bladder incontinence
; anesthesia in peripheral area
; *no impairment of motor function
# mid-lumbar lesion
; sac like cystic structure covered by a thin layer of partially
;
*flaccid paralysis of lower
extremities
; abscence of DTR
; lack of response to touch & pain
; high incidence of postural abnormalities of the lower ext. ( club foot, subluxation of hip)
; constant urinary dribbling & relaxed anal sphincter ( LMN sign due to abnormalities & disruption of conus medullaris)
# higher into the thoracic region, increasing neurologic deficits
# upper thoracic or cervical region
; very minimal neurologic deficits
; 대개 hydrocephalus는 동반 안함
# myelomeningocele 환자의 80% 이상에서 type II Chiari defect 연관된 hydrocephalus 동반
; hindbrain dysfunction
- difficult feeding, chocking, stridor, apnea vocal cord paralysis, pooling of secretion, spasticity of upper ext.
- 사망초래 가능
# Chiari crisis ; downward herniation of medulla & cerebellar tonsils through foramen magnum
# site 낮을수록 hydrocephalus risk도 낮아짐.
Treatement
; multidisciplinary team approach
; *최근에는 delayed operation 선호
-
♥why?
- allows the parents to begin to adjust to the shock and to prepare for the multiple procedures and inevitable problems
# early treatement Ix. in UK
; marked paralysis of legs
; thoracolumbar or thoracolumboscral lesion
; kyphosis or scoliosis
; associated birth injury
; other congenital defect of the heart, brain, GI tract
; grossly enlarged head
# *가장
최근에는 대부분의
센터에서는 aggressive treatment을
하고 있다.
# myelomeningocele repair후 대부분에서 hydrocephalus에 대한 shunting procedure
# hindbrain dysfunction시 early surgical decompression of medulla & cervical cord 필요
# ★Careful
Evaluation & Reassessment Of GU System
; neurogenic bladder
- regular catheterization to maintain a low residual volume
--> prevention of UTI, reflux, pyelonephritis, hydronephrosis
; periodic urine culture and assessment of renal function
- serum electrolyte, creatinine, renal scan, IVP, ultrasound
Prognosis
aggressive Tx. 시 mortality rate 10-15%
대개 4세 이전에 사망
70% of survival - normal intelligence
but learning problem, seizure disorder 빈도는 높다.
previous episodes of meningitis, ventriculitis
--- intelligence에 영향 미침
542.5 Encephalocele
# 2 major form of dysraphism affecting the skull resulting in protrusion
of tissue through a bony midline defect ( cranium bifidum )
1) cranial meningcocele
; CSF filled meningeal sac으로 구성
대개 good prognosis
2) cranial encephalocele
; contains the sac plus cbr. cortex, cbll or portion of brain stem
microscopic exam. 시 abnormal neural tissue
cranial defect -- occipital region에 흔함
aqueductal stenosis, Chiari malformation, Dandy-Walker syndrome으로
인해 hydrocephalus risk 높다.
denuded skin 있으면 urgent surgical management 필요
Dx. 1. transillumination of sac
2. plain roentgenogram of the skull & cervical spine
--- vertebral anatomy 확인
3. ultrasound
; most helpful in determining the contents of the sac
; CT 불필요
4. in utero age에 AFT나 ultrasound상 biparietal diameter
측정으로 진단가능
risk ; 1. visual problem
2. microcephaly
3. M.R.
4. seizure
poorist prognosis group
; children with neural tissue within the sac & associated
hydrocephalus
# Meckel-Gruber syndrome
1. rare
2. A.R. condition
3. occipital encephalocele, cleft lip or palate,
microcephaly, micropthalmia, abnormal genitalia,
congenital nephrosis, polydactyly & polycystic kidney
542.6 Anencephaly
large defect of the calvarium, meninges & scalp associated with a
rudimentary brain (connective tissue, vessel, neurogenitalia로 구성,
Cb. Cbll 대개 없고 brain stem 일부만 남아있음 )
원인 ; failure of closure of the rostral neuropore
# additional anomaly
1. folding of the scar
2. cleft palate
3. CHD ( 10-20%에서 )
# incidence ; 1/1000 live birth
# 50%에서 polyhydroamnios와 동반됨
# prenatal monitoring in history of previous anencephaly
1. amniocentesis
2. AFT
3. CHD (10-20%)
# 원인 ; genetic basis, low socioeconomic state, nutritional &
vitamine deficiency, environmental & toxic factors.
542.7 Disorder of cell
migration
# Severity and the extent
1. timing of particular insult
2. environmental & genetic factor of host
★ mechanism in control of neuronal migration
; radial glial fiber system ▲
# Neural tube classification
1. ventricular zone
; ependymal layer
- pluripotential, pseudostratified, columnar neuroepithelium
2. mantle zone
; specific neuroepithelial cells
--> differentiate
--> primitive neurons or neuroblasts
3. marginal zone
; cell in the outer layer of neuroepithelium (inner layer - cortical plate from ventricular zone)
--> whiter matter
# Glioblasts
; neuroepithelial cells in ependymal zone
--> differentiate
--> migrate to mantle, marginal zone
--> astrocytes, oligodendrocytes
※97 종류
1. Lissencephaly
2. Schizencephaly
3. Porencephaly
Lissencephaly
; *abscence
of cerebral convolutions & poorly formed sylvian fissure
; result of faulty neuroblast migration during embryonic life
; usually associated with enlarged lat. ventricles & heterotopia in white matter
Clinical Manifestation
; failure to thrive
; microcephaly
; marked developemental delay
; severe seizure disorder
; ocular abnormality ; hypoplasia of optic n. & microphthalmia
; ★Miller-Dieker synd
- characteristic facies
/ *prominent forehead, bitemporal hollowing, anteverted nostril,
prominent upper lip, micrognathia
- *90% : chromosal deletion 17p
- CT scan ; smooth brain with abscence of sulci
Schizencephaly
;
*unilateral or bilateral clefts
within the cerebral hemispheres due to an abnormality of morphogenesis
; microgyria에 둘러 싸임
# Cl/m
1. severe M.R.
2. seizure that are difficult to control
3. microcephalic with spastic quadriparesis -- bilat. cleft 시
-- CT scan ; diagnostic
Porencephaly
; cysts or cavities within the brain result from developmental defects or acquired lesion (e.g. infartion of tissue )
542.8 Agenesis Of Corpus
# severe intellectual &+-neurologic abnormality -- asymptomatic & normal
+-variation 많음 intelligence
# early embryogenesis 동안 ant. neuropore 의 proximity에 있는 commissural
plate의 insult에 의함
# brain cell migration defect에 의한 anomaly(heterotopias, microgyria,
pachygyria (broad wide gyri)) 동반시 neurologic symptom 동반
( M.R. microcephaly, hemiparesis, diplegia, seizure)
# Dx. ; CT or MRI : widely seperated frontal horns with abn`l highly
positioned 3rd ventricle between lat. ventricle
X-linked recessive or A.D. trait
8 or 18 trisomy와 동반잘됨
## Aicardi syndrome
1. agenesis of corpus callosum
2. female에만 나타남 9 ( X chromosomal abnormality )
3. cl/m
a. anticonvulsant 에 resistant seizure ; 1st few months 에 나타남
EEG finding ; independent activity recorded from both hemisphere
b. severe M.R.
c. abnormal vertebrae ( fused or partially developed)
d. abnormal retina ; circumscribed pits or lacunae
coloboma of optic disk
542.9 Agenesis Of The Cranial Nerves
# Mobius syndrome
1. bilat. facial weakness, often ass. with abducence n. paralysis
2. hypoplasia or agenesis of brain, stem nuclei & abscent or decreased
number of muscle fibers
3. newborn period때 facial weaknessaa 에 의한 feeding difficulty로 나타남
(poor suck)
4. prognosis for normal development ; 대부분 excellent
# Marcus Guhn phenomenon
; sucking jaw movements causing simultaneous eyelid blinking
- abnormal innervation of trigeminal & oculomotor nn.에 기인
542.10 Microccephaly
head circumference가 해당 age, sex의 mean에비해 3SD이하
# 종류
1. primary ( genetic ) microcephaly
2. secondary ( nongenetic ) microcephaly
Etiology
## P 1682 Table 542-1
1) primary microcephaly
have no other malformation
Mendelian pattern 따라 유전
or ass. with a specific genetic syndrome
2) secondary
result from a large number of noxious agent in utero or rapid brain
growth period ( 1st 2 year of life )
(2) Cl/m
very small H.C. - embryonic feetal insult의미
less severe microcephaly - 대개 2세 이후에 나타남
( small H.C. 측정이 중요 )
# Dx.
a. microcephaly의 원인을 모를 경우 mother's phenylalanine level check
b. chromosomal syndrome 이 의심되거나 abnormal face, short stature
congenital anomaly 동반시 Karyotype check
c. skull roentgenogram, CT, MRI
d. fasting plasma & urine amino acid analysis, serum ammonia,
TORCH titers of mother & child, urine sample for culture of CMV
(3) Treatement
accurate & supportive genetic & family counseling
542.11 Hydrocephalus
; CSF circulation, absorption의 장애나 production의 증가
( choroid plexus papilloma ) 에 의함
Physiology
1) CSF의 생성
1. Ventricular system by choroid plexus (lat. 3rd. 4th)
# lat. ventricle choroid plexus에서 대부분 생성
# 25% extrachoroidal sources ( capillary endothelium within brain
parenchyme)
2. adrenergic n. system 자극시 CSF 생성 감소
cholinergic " " " " 증가
3. normal chi ;20ml of CSF/hour 생성
4. total volume
infant ; 50ml
adult ; 150ml
2) CSF pathway
1. hydrostatic pressure gradient에 의함
intraventricular pressure ; 180mm of water
sup. saggital sinus pressure ; 90mm of water
2. lat. ventricle ----------------> 3rd ventricle
(foramen of Monro)
-----------------> 4th ventricle
(aqueduct of Sylvius)
--------------------> cistern at brain base
(f. Luschka (pair lat) or f. Mageeendi (midline))
Pathophysiology & Etiology
Obstructive Hydrocephalus
; *▲common
; aqueductal stenosis
- small percentage of sex-linked recessive trait
; aqueductal gliosis
- after neonatal menigitis or SAH in premature infant
; vein of Galen malformation
; 4th. ventricle lesion
- *post. fossa tumor, Chiari malformation, Dandy- Walker syndrome
Nonobstructive Hydrocephalus
; SAH
; pneumococcal & Tbc. meningitis
; intrauterine infection
; leukemic infiltration in subarachnoid space
Clinical Manifestation
# 관여하는 인자
1. age of onset
2. nature of lesion causing obstruction
3. duration & rae of rise of ICP
) infant
1. accelerated rate of enlargement of the head : most prominent sign
2. wide open & buldging ant. fontanel, dilated scalp vein
3. broad forehead
4. "setting sun" eye sign
; impingement of the dilated suprapineal recess on the tectum
--> eyes deviate downward
5. long tract sign ;
brisk tendon reflex, spasticity, clonus(특히 하지) Babinsky sign
6. irritability, lethargy, poor appetite, vomiting
# 2) older children : more subtle sign
1. irritability, lethargy, poor appetite, vomiting
2. headache ; prominent symptoms in older age
3. gradual change in personality & deterioration
in academic productivity (slow progressive form)
4. skull percussion시 cracked - pot or Macewen sign
indicating suture seperation
5. papilledema, abducens n. palsy, pyramidal tract sign
( lower ext. 에현저)
Chiari Malformation
1) type I
;
*displacement of the cerebellar
tonsils into cervical canal
; *symptom during adolescence or adult life
; *usually not ass. with hydrocephalus
; Clinical Manifestation
-
*reccurent headache, neck pain,
urinary frequency, progreessive lower ext. spasticity
2) type II
; hindbrain anomaly
-
*failure of pontine flexure during
embryogenesis
-->
*elongation of 4th ventricle &
kinking of brain stem with displacement of inf. vermis, pons, medulla into the
cervical canal
;
♥progressive hydrocephalus & myelomeningcele
; *10% symptom during infancy
- *stridor,
weak cry, apnea
- relieved by shunting or post. fossa decompression
; indolent form
- gait abnormality, spasticity, increasing coordination during childhood
; plain skull radiographs
- small post. fossa & winded cervical canal
; CT scan eith contrast & MRI
- display the cerebellar tonsils protruding downward into cervical canal & hindbrain abnormalities
; treatement - surgical decompression
Dandy-Walker Malformation
;
*developmental failure of roof of
4th ventricle during embryogenesis
-->
*cystic expansion of 4th ventricle
in post. fossa
; 90% hydrocephalus
상당수에서 post. cbllar vermis & corpus callosum의 agenesis동반
; rapid increase in head, size & prominent occiput
; transillumination (+)
; long tract sign, cbllar ataxia, delayed motor & cognitive milestones
; 치료 - shunting the cystic cavity & ventricles in the presence of hydrocephalus
Diagnosis & Differential Diagnosis
# familial cases
;
*X-linked hydrocephalus secondary
to aqueductal stenosis
# PHx. of prematurity with ICH, meningitis, mumps encephalitis
# multiple Cafe-au-lait spots & other clinical featurees
; neurofibromatosis ( aqueductal stenosis )
# careful inspection, palpation, auscultation of skull & spine
a. occipitofrontal head circumstence기록 & 전 측정치와 비교
b. ant. fontanel size & configuration
c. abnormal midline skin lesion in back ( spine dysraphism )
d. presence of prominent forehead or abnormal shape of occiput
e. cranial bruit ( vein of Galen malformation )
# transillumnation of skull (+)
( massive dilatation of ventricular systam Dandy - Walker syndrome )
# inspection of eye ground
chorioretinitis ; intrauterine infection
papil edema
# plain skull X-ray; seperation of suture, erosion of the post.
clinoidd, increased in convolutional marking
( beaten - siliver app)
# CT scan or MRI along with ultrasound
; most importent study
# ★Megalencephaly
; secondary to thickened cranium
- chronic anemia, rickets, asteogenesis imperfecta, epiphyseal dysplasia
; chronic sudural collection -- bilat. partial bone prominence
; metobolic & degenerative disorder of CNS
- *lysosomal disease(e.g., Tay-Sachs, gangliosidosis),
aminoaciduria(e.g., MSUD), leukodystrophies(e.g., metachromatic, alexander
disease, cananvan disease)
; cerebral gigantism & neurofibromatosis
; familial megalencephaly (AD trait)
; hydranencephaly
1. cerebral hemisphere
; abscent or represented by membranous sacs within remnants of frontal temporal occipital cortex ( midbrain or brain stem ; 비교적 intacts )
2. normal or enlarged head circumference at birth
--- grow at an excessive rate bilat. occlusion of int. carotid aa.
3. transillumination ; abscence of cbr hemisphere
4. Cl/m ; irritability, poor feeding, seizure, spastic quadriparesis little or no cognitive development
5. 치료 ; VP shunts
Treatement
# medical
; acetazolamide, furosemide
- temporary relief by reducing the rate of CSF production
# VP shunts
; major Cx.
-
*bacterial infection (usually
staph. epidermidis)
Prognosis
# 영향을 미치는 인자
; cause of dilated ventricles
( not on the size of the cortical mantle at the time of op )
# risk
1. developmental diability
2. mean I.Q 감소
3. memory function 장애
4. visual problems : strabismus, visuospatial abnormailty
visual field defect, optic atrophy with decreased acuity
542.12 Craniosynostosis
; premature closure of the cranial suture
primary - closure of one or more sutures due to abnormalities of skull
development
secondary - failure of the brain growth & expansion
# incidence of primary craniosynostosis ;1/2000 births
10-20%에서 genetic syndrome에 동반됨.
(1) Etiology ; unknown
abnormal development of the base of the skull
creates exggerated forces on the dura
----- disrupt normal cranial suture development
( dysfunctional osteoblast, osteoclast와는 무관)
(2) Cl/m & Tx.
1) Cl/m
1. skull deformity is evident at birth
2. skull palpation - prominent bony ridge
3. plain skull X-ray - fusion of suture
ambiguous case에서는 bone scan시행
2) 쫑류
# neurologic Cx.( hydrocephalus, IICP )
; 2개 이상의 premature suture 시 동반
operative intervention이 essential
# Tx.
a. premature fusion of only one suture
sole Ix. for surgery
; cosmotic app. 위해
b. 2개 이상의 suture premature시
; neurologic Cx. (hydrocephalus IICP) 동반 많음
--> operative intervention essential
## genetic disorder ass. with craniosynosstosis
# 동반된는 anomaly
a. hydrocephalus
b. IICP --> craniectomy 필수적
c. papilledema
d. optic atrophy & abn`l of optic foramine
e. resp. problem secondary to deviated nasal septum. choanal atresia
f. disorder of speech & deafness
Chapter 543 Seizures in Childhood
# frequency ; 4-6 case/1000 children
# seizure(convulsion)
; paroxysmal involuntary disturbance of brain function
--> impairment or loss of consciousness, abnormal motor activity, behavioral abnormalities, sensory disturbance, autonomic dysfunction
# epilepsy
;
*recurrent seizure unrelated to
fever or to an acute cbr. insult
Evaluation
History
seizure pattern,
+---> 종류 ① type :+- focal +- tonic
+- generalized | clonic
| tonic - clinic
+- atonic, myoclonic
② duration
③ state of consciousness
④ aura 선행 여부 : TMC aura
+- epigastric discomfort or pain
+- feeling of fear
⑤ posture
cyanosis
vocalization
loss of sphinter control esp) urinary
⑥ postictal state
frequency, time of day, precipitating factor.
alteration in type of convulsive disorder
Examination
: to search for organic cause
1. BP.
2. growth chart ( HC, BW, length )
3. unusual facial feature or asso. physical finding ex)hepatosplenomegoly
4. search for neurocutaneous disorder
5. localizing neurologic signs
6. unilat. growth arrest of thumbnail, hand, extrimities in a child
with focal seizure disorder
(porencephalic cyst, AVM, cortical atrophy in opposite hemisphere)
7. eyegrounds ; papilledema, retinal hemorrhage, chorioretinitis, coloboma,
macular change, retinal phakoma
8. hyperventilation - absence epilepsy 유발
Classification Of Seizures
♥ Why it is important to
classify the type of seizure ?
1. clue to cause of seizure
2. make prognosis
; generalized tonic-clonic seizure vs paritial
; infant with benign myclonic epilepsy vs infantile spasm
; rolandic epilepsy
Table 543-1 P 1687
543.1 Patrial seizure
; childhood seizure 의 40%
Simple Partial Seizure (SPS)
; motor activity
-
*▲common symptom
-
*asynchronous clonic or tonic
movements
- involve face, neck, extremities
; ★versive
seizure
-
*head turning & conjugate eye
movement
;
*automatism do not occur
; some *aura
- chest discomfort, headache
-
*”feeling funny” or “something
crwaling inside me”
; average seizure duration
- 10~20 sec.
# Differential Diagnosis
;
★Tics
-
*shoulder shrugging, eye blinking,
facial grimacing (주로 face shoulder)
-
*can be suppressed
; EEG
- spikes or sharp waves unilat. or bilat.
- multifocal spike pattern
Rasmussen Encephalitis
; cause of epilepsia partialis continua
; proceding nonspecific febrile illness
--> very frequent or continuous focal seizure
; pathogenesis
- autoantibodies --> stimulate glutamate receptor
; sequelae
- hemiplegia, hemianopsi, aphasia
; EEG
-
*diffuse proxysmal activity with
slow background
; progressive, lethal
- often self limited with significant focal neurologic deficits
Complex Partial Seizure(CPS)
; may begin with a SPS with/without aura -> impaired consciousness
Clinical Manifestation
1. aura ; vague unpleasant feelings, epigastic discomfort, fear
(1/3 of SPS & CPS)
2. impaired consciousness
- brief & infrequent
- brief blank stare, sudden cessation or pause in activity
3. automatisms ; 50-75% of CPS
- older --> greater frequency
- following loss of consciousness
- not recalled by child
# Infants
; alimentary automatism
- lip smacking, chewing, swallowing, excess salivation
# older children
; semipurposeful, incoordinated, unplanned, gestural automatisms
- picking & pulling at clothing or in the bed sheets
- rubbing, caressing objects
- walking, running in nondirective, repetitive, fearful fashion
Secondary Generalization With A Tonic-Clonic
Convuision
; contralateral versive turning of the head
; dystonic posturing
; tonic or clonic movements of the extremities and face
; average duration
- 1~2 min
; EEG
- interictal EEG
① *ant. temparal lobe
sharp or focal spikes & multifacal spikes
② interictal sharp waves or spikes originated from fronral, parietal, occipital lobes
- normal interical EEG in 20%
♥ Further evaluation
① sleep-deprived EEG study
② zygomatic leads during EEG
③ proloneged EEG recording
④ study of hospitalized patient weaned from anticonvulsant
; Radiologic studies
- CT or MRI
- temporal lobe lesion in a child with CPS
medial temporal sclerosis
harmartoma
3. postencephalitic gliosis
4. subarachnoid cysts
5. infarction
6. AVM
7. slow-growing glioma
※94객
Benign Partial Epilepsy With Centrotemporal Spikes(BPEC)
; (= Rolandic epilepsy)
; excellent prognosis
Clinical Manifestation
; lack of neurolopathologic lesion
;
*2-14yr
-
*peak age of 9-10yr
; unremarkable PHx
; normal neurologic exam
; positive FHx of epilepsy
; seizure
- partial, motor sign, somatosensory symptoms
-
*attack during sleep (75%)
/ cf. CPS : during waking hours
; oropharyngeal symptoms
- tonic contractions & paresthesia of tongue, unilat. numbness of cheek (paricularly along gum), guttural noises, dysphagia, excessive salivation
; unilateral tonic-clonic contracture of lower face accompaning oropharyngeal symptoms
- as do clonic movement or paresthesia of ipsilateral extremities
; consciousness
- intact or impaired
;
*may proceed to secondary
generalization of partial seizure
; mostly infrequent seizure
- 20% only 1 seizure
- 25% repeated clusters of seizures
EEG
; diagnostic
; *repetitive spike focus localized in centrotemporal or Rolandic
area with a normal background activity
Treatment
;
★carbamazepine
-
*at least 2yr or until 14-16세
543.2 Generalized Seizures
Absence Seizure
(=Petit mal ; simple absence)
# ♥Characteristics
; sudden cessation of motor activity
; speech with a blank facial expression & flickering of eyelids
; uncommon prior to 5yr
; more prevalent girl
;
*never asso. with aura
; rarely persist longer than 30sec
;
*not asso. with postictal sleep
Clinical Manifestation
;
*not lose body tone, but head may
fall forward slightly
;
*frequently automatic behavior
; hyperventilation for 3-4 min
--> induce seizure
;
♥complex absence seizures
- motor components
/ myoclonic movement of face, fingers, extrem. & occasionally loss of body tone
-
*atypical EEG spikes and wave
/ 2-2.5/sec
EEG
;
*typical 3/sec spike &
generalized wave discharge
Generlized Tonic-Clonic Seizure
extremely common
secondary generalization 도 있다.
1) Cl/f
1. aura ; epileptiform discharge 의 focal origin suggest
2. tonic contractions ->sudden loss of consciousness, eye roll back, apnea
with cyanosis
3. clonic phase ; rhythmic contraction
sigh↓
4. postictal state
① semicomatose & deep sleep ; 30분 - 2시간
② vomiting, severe bifrontal headache
loss of sphincter control (esp. bladder) 흔함.
2) Management
1. tight clothing, jewelry arround neck - 느슨하게 풀어줌.
2. place on one side
3. neck & jaw ; gently hyperextension
4. mouth should not be opened forcibly by an object or finger
3) neurologic finding during seizure or immediately postictally
1. truncal ataxia
2. hyperactive DTR
3. clonus
4. Babinski reflex
4) precipitating factor
1. low - grade fever asso. with infections
2. excessive fatigue or emotional stress
3. drug ; psychotropic medications
theophylline, methylphenidate
Myoclonic Epilepsies Of Childhood
* 특징 ; repetitive seizure consisting of brief, often symmetric muscular
contraction, loss of tone & falling or slumping foward
---- injury to face & mouth
## subgroups
(5) [A] Benign myoclonus of infancy
1) Cl/f
1. onset during infancy
2. clusters of myoclonic movement - neck, trunk, extrimity
2) EEG ; normal ( cf. infantile spasm)
3) Px. ; good with normal development & 2 세경까지 stop.
치료는 필요하지 않다.
4) familial A.D form ; chromosome 2D에 위치
[B] Typical myclonic epilepsy of early childhood
1) Cl/f
1. onset age ; 2 ½세 (6mon-4세)
2. frequncy ; 다양
3. febrile convulsion or GTC seizure 가 선행되는 경우도 있다.
4. 1/2 ; tonic-clonic seizure 동반
5. 1/3 ↑; FHx. of epilepsy (+)
2) EEG ; fast spike wave complex ≥ 2.5Hz & normal back-ground rhythm
3) Px.
1. relatively favorable
2. 소수에서 M.R. 동반
3. 50%이상에서 수년후 seizure free
4. 상당수에서 learning, language problem & emotional, behavioral disorder
발생
[C] Complex myoclonic epilepsy
1) Cl/f ; poor Px
1. 1st. year에 focal or GTC seizure --> myoclonic epilepsy 로
2. URI or low grade fever 동반된 generalized seizure
-->status epilepticus 로 develop잘됨
3. 1/3 ; delayed developmental milestones
4. perinatal period에 HIE history & generalized UMN & extrapyramidal sign
with microcephaly 흔함.
5. epilepsy 의 family Hx. 는 typical myolonic epilepsy 에 비해 드물다.
## * Lennox Gastaut syndrome
; combination of frequent myclonic & tonic seizures
EEG - interictal slow spike waves
2) EEG ; interictal slow spike waves
3) Px.
1. refractory to anticonvulsants
2. 75%에서 M.R. & behavioral problem 동반
Juvenile Myoclonic Epilepsy
; 5% of epilepsies
; gene locus on chromosome 6 p
; Clinical Manifestation
- onset age ; 12-16 세
- *frequent myoclonic jerk upon
awakening
/ *오전중 myoclonus 사라짐
- *수년뒤 early morning GTC seizure asso. with myoclonus
- normal neurolgic exam.
; EEG
- 4-6/sec. irregular spikes & wave pattern
/
*enhanced by photic stimulation
; Treatment
-
*Valproate
/ dramatic responsive
/ life-long
- drug 끊으면 재발 많다
Progressive Myoclonic Epilepsy
종류; Lafora disease, myoclonic epilepsy with ragged red fibers(MERRF),
sialiosis type 1, ceroid lipofuscinosis,
jurenile neuropathic Gaucher ds, jurenile neuroxinal dystrophy
---> rare genetic desorders, with grare Px.
1) Cl/f
1.10-18세
2.GTC seizure 로 시작 --> 결국 myoclonic jerk으로 변화
3.mental deterioration
특징적 seizure onset 1년내 발생
4.neurologic abnormalites 특히 cerebellar & extrapyramidal signs 두드러짐.
2) EEG
; polyspike-wave discharges esp) in occipital regin
with progressive slowing & disorganized background
3) Lafora ds (A.R. disorder)
Dx ; skin biopsy - 특징적인 periodic
acid-schiff positive inclusions 발견
eccrine sweat-gl duct cell 에 명백
4) Tx ; control 하기 어려움
valproic acid + benzodiazepine combination
e.g)clonazepam
- ganeralized seizure control 에 유효.
(4) Infantile spasm
1) Cl/f
1. onset age ; 4-8months
2. brief symmetric contractions of neck, trunk, extremities
3. 3 types
① flexor spasm ; sudden flexion of neck, arms, legs onto trunk
② extensor spasm -- least common form, extension of trunk, ext
③ mixed spasm -- most common form
4. seizure 는 수분간 지속되고 spasm 사이 brief interval
5. cry - spasm 전이나 후에 동반
6. occur during sleep or arrousal, tendency to develop while drowsy
or immediately upon awakening
(5) Landau - Klaffner syndrome(LKS)
rare unknown eti.
more common in boys (평균 연령 5.5세)
1) Cl/f
1. loss of language skills in a previously normal child
70%↑ seizure disorder 와 연관
language regression -> aphasia
auditory agnosia (+), hear : normal
2. behavioral problems : irritability, poor attention span
but normal performance test, visual-spatial skill
3. seizure ; several types: focal, GTC, atypical absence, paritial complex,
myoclonic
4. EEG
① high-amplitude spike & wave discharges in bitemporal
- mutifocal a generalized 가능
② normal 일수도 있다.
③ non-REM sleep중 나타남
( ∴ LKS-EEG를 sleep 중 check함)
5. CT, MRI ; normal
PET scan ; unilat or bilat, hypo or hyper metabalism
minimal gliosis 소견 보임.
6. Tx
① valproic acid - choice
② some ; V.A + clobazam combination 필요
③ seizure + aphsia 지속 - steriod 사용
; oral prednisolone 2mg/kg/24hr for 1Mo
-> tapering to 1mg/kg/24hr for 1Mo
-> 0.5mg/kg/24hr for 6-12Mo
④ speech Tx & 유지 요법 수년간 지속
⑤ 수술요법 ; subpial transection
medical management 실패시 시행
⑥ methylphenidate ; hyperactivity & imattention 심할때 사용
7. Px
; 대부분 significant abnormality of speech function 가짐.
onset of LKS at earyl age (< 2yr )
- speeah recovery 에 대한 poor prognosis 가짐
2) EEG
1. Hypsarrhythmia
; chaotic pattern of high-voltage, bilaterally asynchronous.
slow-wave activity
2. modified hypsarrhythmia pattern
3) classification (2 groups)
1. crypotogenic (10-20%)
① uneventful preg. & birth Hx.
& seizure onset 이전 normal development
② neurologic exam. & CT scan of head ; normal
& no asso. risk factors
③ good prognosis
2. symptomatic
a. prenatal & perinatal factors
① HIE. & periventricular leukomalacia
② congenital infection
③ inborn error of metabolism
④ neurocuaneous syndrome e.g)tuberous sclerosis
⑤ cytoarchitectual abnormality ( lissencephaly, schizencephay )
⑥ prematurity
b. postnatal factors
① CNS infection
② head trauma ( subdural hematoma & IVH )
③ HIE.
④ 과거 pertussis vaccine 연관성
-> 현재 원인인자로서 immunization 과는 무관하다고 여김
c. Px. ; 80-90% M.R. 동반
( underlying CNS disorder - 예후에 관여 )
4) Pathogenesis
1. dysfunction of monoaminergic neurotransmitter system in brain stem
2. derangement of neuronal structures in brain stem
3. abnormality of immune system
4. 최근 CRH -> ACTH 분비 -> glucocorticoid
<-------------------
specific stress a injury inhibition
-> CRH overproduction -> +- neuronal hyperexcitability -> 점차 감소
+- seizure 유발
(특히 infact ; CRH-ⓡ max.)
5) Tx. ; ACTH & glucocorticoix -> CRH 억제
figure 543-1 p 1689
# Mechanisms of seizures
- excitatory a.a neurotransmitters (glutamate, aspartate) 가 neuronal excitation
에 중요한 역할
neuronal death area 에서 발생
- Kindling phenomenon
; repeated subconvulsive stimulation of brain
-> generalized convulsion 유발
- age-specific seizure e.g) infantile spasm
; underdeveloped brain 이 more susceptible
- genetic factors ; 최소 20% 연관성
+- benign neonatal convulsion (20q)
| juvenile myoclonic epilepsy (6p)
+- progressive myoclonic epilepsy (21q 22.3)
- substantia nigra immaturity 가 seizure 에 대한 감수성 증가와 연관
; GABA-sensitive SNR neuron 이 seizure preventing
- 그외 neuronal hyper excitability, inhibitory mechanism, nonsynaptic mechanisms
of seizure propagation, GABA-ⓡ abnormalities 와 관련
543.3 Febrile Seizures
; age dependent
-
*rare prior to 9 mo and after 5yr
-
*peak 14-18 mo
; incidence
- 3-4% of young children
; strong FHx.
Etiology
;
*arginine vasopressin
- important mediator in pathogenesis in animal studies
Clinical Manifestation
; typically GTC
- a few seconds to 10 min
- *brief postictal period of
drowsiness
; cause of fever
- viral infection of upper resp. tract, reseola, acute O.M.
;
*lumber puncture indication ;
meningitis 의심될 때
반드시 시행
# EEG indication
; ★atypical febrile seizure
- persisting seizure for more than 15min
- repeated convulsions for several hours or days
- focal seizure
# ♥Risk
For Development Of Epilepsy
; FHx. of epilepsy
; initial febrile seizure prior to 9 mo
; prolonged or atypical febrile seizure
- 15min 이상
- focal seizure
- 하루 1회이상, 1년에 5회이상
; delayed development
; abnormal neurologic exam.
--> 9% incidence of epilepsy (cf. no risk group : 1%)
# recurrent rate ; 50%
Management
; prophylaxis 는 필요하지 않다.
<신판에 없는 내용>
* oral diazepam ; effective & safe method of reducing risk of reccurance
of febrile seizure
방법 ; febrile illness onset 때
0.3mg/kg 8hr po. (1mg/kg/24hr) for 2-3days
+- phenytoin, carbamazepine ; no effect
+- sodium valproate ; effective
Diagnosis Of Seizures
Minimum Workup For First Afebrile Seizure In Healthy
Child
1. FBS
2. electro (Ca., Mg. 등)
3. routine.EEG (interibtal EEG;epilepsy의 40%에서 normal)
-> actiration procedure 시행
Prolonged EEG Monitory With Simultaneous
Closed-Circuit Video Recording
# Indications
; complicated patients with protracted and unresponsive seizures
;
*patients with pseudoseizures
CT scan or MRI
; controversial
; chronic seizure disoder 의 30%에서 structural abnomality동반
# indication of neuroimaging studies
; intracranial lesion의심되는 경우 or abnormal neurologic exam.
1. prolonged partial seizure
2. intractability to anticonvulant therapy
3. focal neuroligic deficit
4. evidence of HCP
CSF exam
Ix. 1. seizure related to infectious proc.
2. seizure related to SAH
3. seizure related to demyelinating desorder
543.4 Treatment Of
Epilepsy
★Table
543-2
★Table
543-3
# first step
; *ensure that patients has a seizure desorder
; Antiepileptic drug 사용 보류하고 기다려야 하는 경우
; +- previous healthy child
| first afebrile convulsion
| (-) family Hx.
| normal neurologic exam.
+- normal EEG
# second step
; *choice of anticonvulsant
- seizure chassification 에 따라
- 1 drug으로 seizure control
* teratogenic effect
phenytoin ---+
valporic acid +- facial, limb anomaly, spinal dysraphism
carbamazepine |
primidone ---+
# if complete seizure control & no risk factors
;
*minmum of two seizure-free years
# ♥
Prominant Recurrence Risk Factor
; greater than 12yr at onset
; neurologic dysfunction (motor handicap or mental retardation)
; history of prior neonatal seizures
; more than 21 seizure before anticonvulsant Tx
# seizure complete control for 2yr & low risk factor
;
*20-25% recurrence rate during
first 6mo
--> weaning process for 3-6mo
# ㉿약물의
일반 치료 원칙
; 한글판 p753
Carbamazepine
*generalized, partial seizure에 다 사용됨
*follow up
1.CBC with diff.--+
2.GOT, GPT -----+-- q 1 month
∵leukopenia, hepatotoxicity때문
;
※95 EM
contraindication
- compete for metabolism by liver
-
*toxicity due to carbamazepin 10,
11 epoxide
; lowed plasma conc. by phenytoin, Pb, valproate
; half life - 8-20 hrs. (#2∼#3)
Gabapentin
* add-on drug for refractory complex-partial
& secondary generalized T-C seizure
* GABA turnover ↑
* no significant drug interaction
비교적 dose-related CNS adverse effect (-)
* 12yr 이상 소아, 300 mg/24hr 시작
-> 3∼5일 간격 300mg 씩 증량
-> total dose 900-1200mg/24hr 까지 (#3)
adult ; 2400mg/24hr (max.)
*S/E ; somnolence, dizziness, ataxia, headache, tremor, nausea, vomiting,
nystagmus, fatigue
Phenobarbital & Primidone
* 비교적 안전
* GTC seizure
* 25% - severe behavior change , 그외 drowsiness, drug rash
Pb : cognitive function 장애 유발
(greater risk; neurological abnormal children)
* Pb plasma level 높이는 drug ; sodium valproate, phenytoin
Phenytoin
;
★S/E
-
rashes, *Steven-Johnson syn.,
lymphadenopathy, *lupus-like ds.,
gum hyperplasia, *hirsuitism,
megaloblastic anemia, polyneuropathy, rickets
Sodium Valporate
; useful for GTC, abscence, atypical abscence, myoclonic seizre
; ★S/E
- mild G-I disturbance, alopecia, tremor, hyperphagia
- rare serious S/E
/ *Reye-like synd.
:
*progressive lethagy & coma,
serum NH3↑,carnitine↓
/ ♥idiosyncratic
hepatotoxic synd.
: abdominal pain, anorexia, weight loss, retching within a few weeks to months of begining therapy
:
*normal liver function test
-->
*치료시작후
수개월이내에 significant, persistent
GI symptoms이 있으면, 주의해야 한다.
- behavioral change / rare
-
*decrease in serum-free carnitine
levels by inhibition of plasmalemmal carnitine uptake
/ some studies
: major causes of hepatotoxicity
; L-carnitine supplement
-
★Indication
/ clinical symptoms suggestive of carnitine deficiency
: weakness, letheragy, hypotonia
/ significant decrease in serum-free carnitine levels
ACTH
* infantile spasm의 70%에서 효과
* Pd로 같은 효과(+)
* common schedule ; ACTH 20 u IM daily for 2 weeks
- no responce면 30-40 u for 4 weeks (dose increase)
- no responce면 oral prednisone 2mg/kg/d for 2 weeks
- no responce면 ora; prednisone 2mg/kg/d for 4 weeks
* side effect
; hyperglycemia, HT, electro. abnormality, GI disturbance, infection,
transient brain shrinkage(CT)
* medication에 대한 responce는 대개 몇 주내 나타남
* no relationship - ease or degree of seizure control & ultimate neurologic
& cognitive outcome
* ACTH, prs D/C후 1/3에서 재발
Ketogenic Diet
; CHO감소, protein감소, fat증가
; recalcitrant seizures
- particularly complex myoclonic epilepsy with associated tonic-clonic convulsion
; effect
-
*increasing the inhibitory
neurotransmitter GABA
Surgery
: intractable seizures unresponsive to anticonvulsant
adult with longstanding seizure with focal onset 특히 focal seizure
* preop. study
1.EEG : critical
2.WADA test
3.single photon emission computed tomography (SPE4CT)
4.positron emission tomography scan (PET)
5.CT, MRI
Counseling The Parents
; encouraged to treat the child as normally as possible
; no restriction of physical activity
-
*bathing or swimming시에는
동반해야 한다.
543.5 Neonatal Seizure
; dissimilar from child or adult
-
*rare GTC seizure
- why?
/
*incomplete arborization of axon
& dendritic process and myelination
Clinical Manifestation & Classification
1) focal seizure (=focal clonic seizure)
; rhythmic twitching of muscle groups (extrem. & face)
; localized structual lesion, infection, SAH와 관련
2) multifocal clonic convulsion
; focal seizure와 유사하나 multiple muscle groups involve
(주로 Ca, Mg감소시 호발)
3) tonic seizure : intraventricular hemorrhage시 특징적 소견. 예후 나쁨
rigid posturing of extrem. & trunk
fixed deviation of eyes
4) myoclonic seizure (1회 또는 여러번 jerk movement)
brief focal or generalized jerks of extrem. or body that tend to involve
dist. muscle groups
5) subtle seizure
chewing motion, excessive salivation, alteration in resp. rate(apnea),
blinking,nystagmus, bicycling or pedaling movement, change in color
# ♥DDx
From Nonepileptic Movement
; tachycardia, elevation of BP을 동반
; no suppression by gentle restraint
; no influence by sensory stimuli
EEG Classification Of Neonatal Seizures
Clinical Seizure With A Consistent EEG Event
Clinical Seizure With A Inconsistent EEG Event
Electrical Seizure With Absent Clinical Seizures
Etiologic Diagnosis
Etiology
; HIE
-
*▲common cause
; infection
- bacterial meningitis, aseptic encephalitis, TORCH infection
; hypoglycemia or hyperglycemia
; hypocalcemia
; hypomagnesemia (<1.5mg/dl)
- 0.2ml/kg 50% solution of MgSO4 im
; hyponatremia (<135mEq/L)
; hypernatremia (>150mEq/L)
; inborn error of metabolism
; unintentional infection of a local anesthetic into fetus during labor
; pyridoxine dependency
; drug withdrawal seizures
- barbiturate, benzodiazepines, heroin, methadone
; neurocutaneous disorder
- tuberous sclerosis, incontinentia pigmenti
; cytoarchitectural abnormality of brain
- lissencephaly, schizencephaly, neonatal adrenoleukodystrophy
; chromosomal disorder
Diagnosis
# careful neurologic exam.
# P/E
; eye (retina)
- chorioretinitis - TORCH infection
- coloboma of iris & retinal lacunae
--> Aicardi syndrome
/ female
/ coloboma of iris, retinal lacunae, refractry seizure, abscence of corpus callosum
; skin
- hypopigmented lesion --> tuberous sclerosis
- crusted vesicular lesion --> incontinentia pigmenti
; unusual odor
- inborn error of metabolism
# electrolyte & blood sugar (Ca, Mg, Na)
# lumbar puncture
; metabolic disorder로 인한 경우 제외하고는 모두 시행
# serum ammonia
; urea cycle abnormality
# urine organic acid
; methylmalonic or propionic acidemia
# 2,4-dinitrophenylhydrazine
; MSUD
# ABGA
; metabolic acidosis
# CT, MRI
# long-chain fatty acid
# Karyotype
Injection Of Local Anesthetics
1) Cl/f 1.intensive tonic seizures
2.flaccid at birth
3.abnormal brain stem reflex
4.resp. depression
2) Dx.
1.needle puncture of skin or perforation or laceration of scalp관찰
2.increased serum anesthetic level
3) Tx ; supportive
iv fluid - urine output증가 (fluid overload방지)
Pyridoxine Dependency
(A.R.)
1) Cl/F
1.generalized clonic seizure begin shortly after birth with signs of fetal
distress in utero.
2.conventional anticonvulant에 resistant
2) Dx
1.100-200mg pyridoxine iv - seizure stop & 수시간내 EEG 정상화
2.CSF & plasma pyridoxal-5-phosphate 측정
3) Tx
10mg/day oral pyridoxine(life-long)
치료 안하면 persistent seizure & severe M.R.
poor Px ; ① 72시간 이상 지속된 seizure
② consistently slow heart rate
good Px ; ① early onset
② brief duration
③ 동반 질환 X (선천성 동반 질환 -)
④ (tremors/ jitteriness) occuring during 1st day of life
Treatment
; anticonvulsants
- phenobarbital, diazepam
; greater use of EEG
-
*seizure discharge와
무관한 abnormal movements는
치료하지 않는다.
Prognosis
; *mainly
depends on primary cause of disorder or severity of insult
#
♥Excellent Prognosis
; hypoglycemia infant of DM mother
; hypocalcemia asso. with excessive phosphate feeding
#
♥Poor Prognosis
; severe HIE
; cytoarchitectual abnormality of brain
543.6 Status Epilepticus
; continuous convulsion lasting greater than 30min
Etiology
# 3 major subtypes in children
1) prolonged febrile seizure
; particularly less than 3yr
;
*▲common cause of status epilepticus
2) idiopathic status epilepticus
; no underlying CNS lesion or insult
3) symptomatic status epilepticus
; seizure asso. with a longstanding neurologic disorder or metabolic abnormality
; higher mortality than 1),2)
# causes
1) severe anoxic encephalopathy
2) encephalitis
3) long term Cx. of menigitis
4) congenital malformation of brain
5) inborn error of metabolism
; progressive loss of consciousness, failure to thrive, excessive vomiting
6) electrolyte abnormality
; hypocalcemia, hypoglycemia
drug intoxicatin, Reye syndrome, lead intoxication
extreme hyperpyrexia, brain tumor (frontal lobe)
Pathophysiology
성인보다 neuronal injury 초래하는 시간 짧다.
most vulnerable areas of brain ; hippocampus, amygdala, cerebellum,
middle cortical area, thalamus
병리소견 ; venous congestion, small petechiae, edema
ischemic cellular change - 조기 소견
# ★Transitional
Period
;
*irreversible neuronal change발생하는 critical period
- 동물 / 20-60분
- 인간 / unknown
Treatment
Initial Management
1.assessment of the respiratory & CV systems
i. AW유지
ii. pulse, temp, resp, BP 측정
2.excessive oral secretion제거 - gentle suction
3.face mask로 O2 공급
- intubation & assisted ventilation
4.iv line 확보
5.hypoglycemia시 rapid infusion of 5ml/kg of 10% dextrose
6.sampling ; CBC, electrolytes, glucose, creatinine, anticonvalsant
level, ABGA, blood & urine for toxicology
( amphetamines, cocaine, phenothiazine,
TCA, theophylline in toxic level)
7. continuous EEG monitoring Ix.
i.anticonvulsant에 refractory seizure
ii.paralyzed patients
iii.respirator사용시
8. physical & neurologic exam.
i.trauma evidence
ii.papilledema/bulging ant. fontanel/lateralizing neurologic signs - IICP
iii.manifestation of sepsis, meningitis
iv.retinal hemorrhage - subdural hematoma
v.Kussmaul breathing & dehydration - meta. acidosis
irregular respiration - brain stem dysfunction
vi.failure to thrive, peculiar body odor, abnormal hair pigmentation
- inborn error of metabolism
vii.constriction or dilation of pupils - toxin, drug
9. neuroradiologic study
Drugs
; always IV
Diazepam or Lorazepam
; initial drug
; diazepam
- 0.3 mg/kg iv (max. 10mg at a rate no greater than 1mg/min.)
- barbiturate와 병용시 resp. depression & hypotension
- tonic-clonic status에 효과적
- long acting anticonvulsant 병용
- 단점
/ short half-life
; lorazepam
- equally effective short-term anticonvulsant
greater action duration
Hypotension & resp. arrest의 빈도는 낮다.
ii. 0.05-0.1 mg/Kg slow iv
0.05-0.1 mg/Kg PR
0.05-0.1 mg/Kg sublingual
Phenytoin
1. loading dose ; 15-20 mg/Kg iv
rate ; 1 mg/Kg/min
2.half or normal saline에 mix (form a precipitate in glucose solution)
3.maintenance dose (seizure stop시)
5-8mg/Kg/day #2 equal dose 12-24 hour후 부터
4.S/E
i. dilution않으면 pain, irritation, phlebitis of v.
ii. arrhythmia, EKG monitoring 필요 (loading시)
Phenobarbital
1.loading dose ; 10-15mg/Kg iv
(neonate ; 20mg/Kg iv during 10-30 min)
2.maintenance dose ; 3-5 mg/Kg/day #2 equal dose
Paradehyde
no IM or rectal
1.비교적 safe drug
2.5% solution (1.75ml paraldehyde + 5% DW mix해 total volume 35 ml)
- glass bottle
3.loading dose ; 150-200mg/Kg iv for 15-20 min
4.maintenance dose ; 20mg/Kg/hr (5% D/W에 mix) - infusion
Diazepam Constant Infusion
; considered rather than paraldehyde
- 특히 initial diazepam에 효과 있었던 경우
; dilution of 0.04mg/ml (sterile water, normal saline, Ringer's lactate)
; flow rate ; 2-3mg/hr
Pentobarbital Coma
(phenobarbital로 coma상태 유지 시킴)
= phentotal마취유도제
1.ventilator, continuous EEG monitor
2.iv loading dose ; 3-5 mg/Kg - 2-3mg/Kg/hr (serum level;25-40ug/ml유지)
3.D/C Ix ; 최소 48시간 이상 EEG에서 burst-suppression pattern
4.S/E ; HoT, electro. abnormality
General Anesthesia
1.conventional drug therapy나 pentobarbital coma에 효과 없는 경우
2.halothane, isoflurane
3.작용기전 ; reversing cbr. anoxia & meta. abnormality
- allowing the previously administered anticonvulsant to exert
their effect
4.단점 ; anesthetic gas scavenging system있는 O.R.에서 오랜기간
Sodium Valproate
; parenteral로 사용 X po∼pr -> Reatal로 사용해야함.
sodium valproate syrup (50mg/ml) - diluted 1:1 with tap water
-- loading dose ; 20mg/Kg retention enema
* Status epilepticus후 anticinvulsants duration
1.progressive neurologic disorder or with a history of recurrent seizure
- long term anticonvulsant therapy
2.initial attack of idiopathic status epilepticus(특히 prolonged febrile
seizure시) - 3개월간 maintain후 symptom없으면 D/C
Prognosis
* mortality rate : 5%
* long term sequelae : 1세 이하에서 more common
1.hemiplegia
2.extrapyramidal syndrome
3.M.R.
4.epilepsy
Chapter 544. Conditions That Mimic Seizures
Benign Paroxysmal Vertigo
; in toddler, rare beyond 3yr
Clinical Manifestation
; sudden attacks
-
*ataxia, fall or refuse to walk or
sit
-
*horizontal nystagmus
; frightening, pale
; nausea, vomiting
;
*not disturbed consciousness,
ability to verbalize
; lack of lethargy or drowsiness at completion of episode
; variable duration, frequency, intensity
; *susceptible to motion sickness & develop migrane headache
several yr later
; normal neurologic exam
- except) abnormal vestibular function detected by ice water caloric testing
; normal audiogram, EEG
Treatment
; dimenhydrinate(=Dramamine)
- 5mg/kg/24hr
- Max. 300mg/24hr PO IM IV or PR
Night Terrors
1) age ; 5-7세, boy -> 반면 night mare는 여아에 호발
2) incidence ; 1-3% of children
3) cl/f 1.sudden onset between midnight & 2:00 AM
during stage 3 or 4 of slow wave sleep : non REM sleep stage III-IV
2.scream & appears frightened, dilated pupils, tachycardia,
hyperventilation
3.little or no verbalization
4.심하게 몸부림치고 주위를 의식 못함
5.다음날 아침 - total amnesia
6.somnambulism (1/3) 동반가능함
4) Tx ;
1.underlying emotional disorder찾기 (stress가 주원인이다)
2.short course of diazepam or imipramine
Breath-Holding Spells
*DDx
|
BHS |
Epilepsy |
선행심리 뇌파 치료방향 |
좌절불안 정상 안전한 곳에 방치 /부모를 안심시킴 |
(-) epileptic discharge(+) 항경련제 |
# (1) Cyanotic spells
* usually predictable
* provoked by upsetting or scolding on infant
1)age : 6month 이전에는 드뭄
peak : 2세 (5세 이후에는 사라짐)
2)cl/f:
1.brief, shrill cry - forced expiraton & apnea
2.rapid onset of generalized cyanosis & loss of consciousness
3.asso. with repeated generalized clonic jerks, opisthotonus,
bradycardia
4.항상 stereotyped
5.normal interictal EEG
3) management : support & reassuarance of parents
(2) Pallid speels
much less common than cyanotic spells
1) cl/f : 1.typically initiated by painful experience
2.stop breathing, rapidly loss of consciousness
- pale, hypotonic, tonic seizure
3.bradycardia with periods of asystole of longer than 2 sec.
4.normal interictal EEG
5.유발방법 : occular compression - oculocardiac reflex
by afferent stimulation of trigeminal n. & by efferent
inhibition of heart by way of vagus n.
2) Tx : 1.conservative treatment
2.oral atropine sulfate 0.01mg/kg/24hr divided doses
(max : 0.4mg/day)
- refractory case에서 사용
Syncope
Simple Syncope
: 10-12세 이전에는 드물고 adolescent female에 흔함
1) pathophysiology: systemic hypotension
decreased cerebral blood flow down
alteration in brain metabolism
2) cl/f : 1.decreased blood flow -> loss of consciousness
2.ischemia -> neuronal discharge from reticular formation
-> brief tonic contractions of muscles of face, trunk, extrem.
(50%에서)
3.during episode : fixed upward deviation of eyes
3) precipitating factor
pain, fear, excitement, extended periods of standing still
(특히 warm environment에서) -> vasovagal sti.
# Tilt-table testing
-> Sx유발 with hypotension (+) -> oral β-blocking agent에 반응
# DDx with seizure
①short duration
②ass. Sx (nausea, perspiration)
③complete orientation following event
4) EEG
transient slowing during attack (no seizure discharge)
Cough Syncope
: asthmatic children에서 가장 흔함
1) Cl/f
1.shortly after the onset of sleep & coughing paroxysm abruptly awaken
the child.
2.plethoric face. perspires. - agitated. frightened
3.loss of consciousness, generalized m. flaccidity, vertical upward gaze,
clonic m. contractions lasting for several seconds.
4.urinary incontinence (+)
5.수초내 recovery, 수분내 의식 회복
6.심한 기침외에는 기억 못함
2)Pathophysiology
cough -> increased intrapleural pressure
-> decreased venous return
-> decreased Rt. ventricular output
-> decreased left ventricular filling
-> decreased CO
-> decreased cbr. blood flow & cbr. hypoxia
-> loss of consciousness
3) Tx : bronchoconstriction 예방
The Prolonged QT Syndrome
1) cl/f
1.sudden loss of consciousness during exercise or emotional & stressful
experience
2.typically onset in late childhood or adolescence
3.syncope period중 cardiac arrhythmia발생
특히 ventricular fibrillation -> 수분내 회복 or 사망
2) EKG : prolongation of QT interval d/t abnormal lengthening of QT
interval (corrected QT > 0.48초)
3) 2 varieties
① acquired heart disease : myocarditis, MVP, electrolyte abnormalities,
drug-induced
② congenital forms
i) A.R. trait ass with deafness
ii) A.D. : genetic marker - chromosome 11p 에 위치
4)family members of pt. : 12 EKG check
5)Tx : β-blocker
exercise restriction
CPCR
Paroxysmal Kinesigenic Choreoathetosis
1. sudden onset unilat. or bilat. choreoathetosis or dystonic posturing of
a leg or arm & ass. facial grimacing, dysarthria
2.precipitated by sudden movement,
특히 arising from a sitting position or exitement & stress
3.1분 이상 지속 드묾, 의식소실 동반 안함
4.onset age: 8-14세 (2세에 시작 가능)
5.neurologic exam, EEG, neuroimaging study : normal
neuropathologic study : 일부에서 abn'l
6.familial : A.R. inheritance
7.Px : Anticonvulsant (phenytoin)으로 예방 가능 -> 성인이 되면서 점차 감소
Shuddering Attacks
(=Shivering)
1.age : 4-6mo.에 onset -> 6-7세까지 지속
2.sudden flexion of head & trunk & shuddering or shivering movement
:마치 찬물을 등에 부었을 때와 유사, 100attacks/day -> Sx free weeks가능
3.precursor of benign essential tremor
Benign Paroxysmal Torticollis Of Infancy
1.recurrent attacks of head tilt asso. with pallor, agitation, vomiting
2.onset : 2-8month -> 2-3세에 spontaneous remission
3.abnormalities in vestibular function,
resist passive head movement, 의식소실(-)
4.later childhood에 migraine develop되기도 함
5.persistent torticollis : cervical vertebra abnormalities
(D/C or fracture검사) tumor on in post. fossa
Hereditary Chin Trembling
1. repeated episodes of rapid 3/sec chin trembling movements
2. precipitated by stress, anger, frustration
3. A.D trait
4. neuro. exam. & EEG : normal
Narcolepsy(수면 탈작) & Cataplexy(탈력 발작)
1) narcolepsy
1.rarely begins before adolescence
2.paroxysmal attacks of irrepressible sleep
3.EEG : recurrent sleep attacks consist of REM sleep
4.Epilepsy와의 DDx : easilly aroused & become spontaneously alert
(Epilepsy : deep sleep, postictal drowsy, lethargy, headache)
2) cataplexy
1.narcolepsy with transient loss of muscle tone & fall to floor because of
laughter, stress, frightening experience
2.의식 소실 없음
3)Tx
1.scheduled naps (계획적인 수면:낮잠)
2.amphetamine, methylphenidate, TCA
3.counseling
Rage Attack Or Episodic Dyscontrol Syndrome
1.confused with complex partial seizures
2.sudden & recurrent attacks of violent
physical behavior with minimal provocation(kicking, scratching, biting,
shouting)
- fatigue, amnesia & sincere remorse
3.EEG during attack : normal -> attack당시 EEG가 정상인것으로 complex partial
seizure와 감별한다.
Masturbation
(self-stimulation behavior)
- female : 2 Mo-3yr
- repetitive stereotyped episodes of tonic posturing asso. with copulatory
movements without manual stimulation of genitalia
- sudden becomes flushed & perspires, frunt, breathe irregulaly, 의식소실없음
- sudden onset, 몇분(드물게 수시간)지속, 대개 stress줌
- sexual abuse or perineum abnormalities검사
- Tx : Reassurance, 3세경까지 소실
Pseudoseizures
age: 10-18세
m<fe, neurotic personality
occurs in many patients with past Hx of epilepsy & in some with ongoing true
seizure
# *epilepsy와의 감별점
1.no cyanosis
2.normal pupil reaction to light
3.no loss of sphincter control
4.normal plantar responses
5.absence of tongue biting or injury during attack
6.EEG : excess of m. artifact during attack but normal background rhythm
devoid of seizure discharges (=epileptic discharge없음)
7.pseudiseizure후 serum prolactin level
- no change (epilepsy:significant increase)
Chapter 545. Headache
# Etiology of headache in children
1.migraine
2.IICP
.psychogenic or stress headaches
4.refractive errors
strabismus
- 6.sinusitis
7.malocclusion of teeth
545.1 Migraine
; *▲important & frequent type of headache in pediatric
population
# ♥Definition
; recurrent headache attack with Sx-free interval & at least 3 of following symptoms
- abd.pain, N/V, throbbing headache, unilat. location, associated aura, relief following sleep, FHx(+)
# incidence
; among school-aged children (7-15세) : 4%
; adolescence : female > male
; *less than 10yr : male > female
Clinical Manifestation & Classification
1.common migraine
2.classic migraine
3.migraine variants
4.cluster headache - rare in children
5.complicated migraine
Common Migraine (Migraine Without Aura)
;
*▲prevalent type
; not associated with aura
; headache
- throbbing or pounding (박동성 두통)
- *bifrontal or temporal region (not
hemicranial) : bilateral
- not intense than adults
- usually persist for 1-3hr
; prominent nausea, vomiting, and associated with abd. pain, fever
; photophobia, light-headedness, extreme paleness, paresthesia of hands & feet
; FHx(maternal side) : 90%
Classic Migraine (Migraine With An Aura)
; aura (blurred vision, scotoma, photopsia(flashes of light),
fortification sectra,irregular distortion of objects)
2.vertigo, light-headedness
3.sensory Sx : perioral paresthesia, numbness of hands & feet)
4.distortion of body images
Migraine Variants
include 1.cyclic vomiting
2.acute confusional state
3.benign paroxysmal vertigo
1)Cyclic vomiting
1.recurrent, sometimes monthly bouts of severe vomiting
- dehydration & electro.abnormality (특히 infant)
2.dehydration심해지면 systemic Sx 동반 (fever, abd. pain, diarrhea)
3.pale, frightened, sonsciousness는 정상
4.deep sleep후 normal play & eating habits
5.대개 migraine의 FHx (+)
6.성장후 typical migraine headache 나타남
7.Tx : 1.antiemetics P.R
- dimenhydrinate 5mg/kg/24hour #4 (max. 300mg/24hr)
2.excessive vomiting시 fluid replacement
2)Acute confusional state
1.bizzare migraine
- confusion, hyperactivity, disorientation, unresponsiveness,
memory disturbances,vomiting, lethargy
2.neuro. exam.
- defects of sensorium, delayed responses to stimuli, plantar extensor
responses
3.수시간 지속후 sleep후에 spontaneously clear & confusional state 기억못함
4.DDx
1.Toxic encephalopathy (특히 adolescent age)
-localized cerebral edema d/t increased vascular permeability
-Dx : ① Hx : confusion attack전에 severe headache or visual Sx선행
② family Hx of migraine (+)
2.encephalitis
3.Acute psychosis
4.postictal state
5.petit mal status epilepticus
6.head trauma
7.sepsis
5.EEG : regional areas of slowing (2-4 CPS)
during & shortly after the attack but routinely returns to normal
within a few days
Complicated Migraines
: development of neurologic signs during a headache that persist following
the termination of headache
* 3 subtypes
1.basilar migraine
2.ophthalmoplegic migraine
3.hemiplegic migraine
1)basilar migraine
1. basilar & post. cbr. a. vasoconstriction
- brain stem sign predominant
2. major Sx : vertigo, tinnitus, diplopia, blurred vision, scotoma,
ataxia, occipital headache
3. Alterations in consciousness followed by generalized seizure
4. attack후 neurologic sign & symptome의 complete resolution
5 .대부분 strongly (+) FHx of migraine
6. relative minor head trauma가 precipitating 가능
7. adolescent나 adult에 classic migraine
8. 4세 이하 female : particular risk
2) Ophthalmoplegic migraine
1. relatively rare in children
2. 3rd N. palsy, ipsilat. to headache during attack
3. DDx : congenital aneurysm compressing the 3rd n.
# Amaurosis fugax : acute, reversible, mononuclear blindness
3) Hemiplegic migraine
1.onset of unilat. sensory or motor signs during an episode of migraine
2. hemisyndrome - children에서 adult보다 흔함
(numbness of face, arm, leg, unilat. weakness, aphasia)
소아에서 1회이상 attack드묾
3. neurologic sign : may be transient or may persist for days
4. child에서 single episode후 complete stroke - unusual
5. in older child, adolescent - relatively good Px
(+) FHx of similar hemiplegic events
6. some children with migraine develop the syndrome of alternating
hemiplegia
:- infant때 onset
- Acute hemiplegia가 migraine의 initial manifestation일수 있고 재발
가능 : one side and then the other
7.frequent episode of vasoconstriction asso. with ischemia
- irreversible cbr. injury
- mental retardation & epilepsy
Diagnosis
& Differential Diagnosis
* basilar migraine DDx
1.cong. malformations of the skull & Cx. vertebrae
2.post. fossa tumors
3.toxins & drugs
4.metabolic abnormalities (Leigh ds. pyruvate decarboxylase deficiency)
* hemiplegic migraine DDx
1. AV malformation
2. MELAS (mitochondrial myopathy encephalopathy lactic acidosis stroke)
3. Cbr. tumor
4. Todd paralysis
5. clotting disorders
6. hemoglobinopathy (Sick cell ds.)
7. metabolic condition (homocystinuria)
* Table 545-1 P 1704
Treatment
avoiding certain initiating stimuli -> 50% 이상 감소
(stress, fatigue, anxiety -> TMC precipitators
- 특히 unrealistic pressure or demands 가해질때
- 학업에도 능력 평가가 중요
certain foods, bright flashing light, sun exposure,
excessive physical exertion, mild head trauma, loud noises,
hunger, fatigue, motion sickness, drugs(alcohol & oral pills) )
Acute attack : analgesics & antiemetics
1. Acetamminophen / Ibuprofen : mild, infrequent, short duration시
2. Ergotamine preparations
: severe, classic migraine 가진 older children or adolescent
early stage of attack에 효과 : 약 투여 시기
=> first sign of attack있을때
1 mg PO, SC. or PR. (repeat dose-30분후)
CIx : hemiplegic episodes
3. Dimenhydrinate (antiemetics)
: 5mg/kg/24hour #4
vomiting시
4.Sumatriptan
: specific, selective 5-HT-ⓡ agonist
- acute phase of classic, common migraine에 effective
- SC or PO
- S/E : hot flushes, N/V, fatigue, drowsiness, HT,
coronary vasospasm-adult
(18세 이하에서 인정 못받음)
# Prophylaxis
; ★Indication
- more than 2-4 severe episodes monthly
- unable to attend school regularly
; continuous daily medication
★Table 545-2
-
*propranolol (β-blocker)
/
*drug of choice
/ maintained for 1yr
# behavior management
; biofeedback & self - hypnosis
; 8세 이상에서 효과적
545.2 Organic Headache
- IICP -> tension or traction of Cb. blood vessels & dura
- early morning, 잠에서 깬 직후, vomiting동반
- diffuse, generalized frontal & occipital region에 두드러짐
# children에서의 원인
1.Brain tumor (post. fossa)
2.hydrocephalus
3.meningitis, encephalitis
4.Cbr. abscess
5.subdural hematoma
6.chronic lead poisoning
7.psuedotumor cerebri
8.AV malformation ----------------------+
berry aneurysm |
Collagen vascular disease affecting CNS | not associate with IICP
Hypertensive encephalopathy |
Acute SAH |
Stroke --------------------------+
545.3 Tension Or Stress Headache
사춘기이전에는 비교적 드묾, 오전에는 드묾
1) cl/f
1.school day esp. test나 anxiety시에 명백
2.can be continuous & persist for weeks, tend to wax & wane,
build in intensity during the day
3.hurting or aching (not throbbing)
4.frontal region & may localize over vertex or occipital area
5.대개 not asso. with nausea, vomiting
2) Dx : by exclusion
3) Tx
1.reassurance & explanation with regard to how stress may cause
a headache
2.remove anxiety-provoking situations
3.acetaminophen & other mild analgesics
4.sedative & antidepressant : 드물게 필요
5.severe case : hospitalizations (특히 underlying depressive illness)
6.biofeedback & self-hypnosis
Chapter 546. Neurocutaneous Syndromes
; heterogenous group of disorders
; abnormalilties of both the integument & CNS
*; defect in the differentiation of primitive ectoderm
# ♥ Classification
1. Neurofibromatosis
2. Tuberous sclerosis
3. Sturge-Weber disease
4. von Hippel-Lindau disease
5. Ataxia telangiectasia
6. Linear nevus synd.
7. Incontinentia pigmenti
546.1 Neurofibromatosis (von Recklinghausen disease)
; autosomal dominant
; 1/4000 of the population
; protean, progressive in that distinctive features
; abnormality of neural crest differentiation & migration during the early stages of embryogenesis
- maybe due to nerve or glial growth factor
Clinical Manifestation & Diagnosis
# Classification
1.
NF-1 ; *▲common
2. NF-2
Neurofibromatosis Type 1
# ♥Diagnostic
Criteria
; any two of the following sign
1) cafe-au-lait spot
; prepubetal - at least 5 with more than 5mm
; postpubertal - at least 6 with more than 15mm
; hallmark in 100%
; present at birth and then increase in size, number, pigmentation(esp. 1st few years)
; predilection site
- trunk & ext.
- *sparing of the face
2) axillary or inguinal freckling
; multiple hyperpigmented areas of 2-3mm in diameter
3) *iris Lisch nodules
; two or more
; hamartomas
; 90% in NF-1, not component in NF-2
4) neurofibroma(two or more) or plexiform neufibroma(one)
①neurofibroma
; skin along peripheral N and blood vessels
; within viscera
; characteristics in adolescence or pregnancy
; small rubbery lesions with purpish discoloration
; at birth due to diffuse thickening of nerve trunks
; in the orbitl or temporal region of face
② plexiform neurofibroma
; hyperpigmented greater than cafe-au-lait spot
; overgrowth of extremities, deformities of the corresponding bone
5) distinctive osseous lesion
;
*kyphoscoliosis in 40%
; dysplasia of sphenoid wing
--> pulsating exophthalmos
; bowing of the tibia, fibula --> pathologic fracture
6) optic glioma
; 15% of NF-1
; relatively benign tumors consist of glial cells & mucinous material
; mostly asymptomatic, normal vision
;
*20% visual disturbance or
precocious sexual development
- due to secondary tumor invasion of hypothalamus
; unilat. optic glioma
- afferent pupillary defect
- swinging flashlight test
; *NF-1 & plexiform neuroma of eyelid
--> high association with ipsilat. optic glioma
; CT finding
- diffuse thickening
- localized enlargement
- distinct focal mass originating from optic n. or chiasm
7) 1st degree relative with NF-1 whose diagnosis was based on the aforementioned criteria
; ★NF-1 gene on chromosome 17q11.2
# ★Neurologic
Cx
1) learning disabilities
2) attention deficit disorders
3) abnormalities of speech
4) complex partial & GTC seizures
5) *macrocephaly with normal sized ventricles
- *but hydrocephalus rare
6) hemiparesis & intellectual deficits due to cerebral vessels occlusion
7) psychologic disturbance
8) malignant neoplasm
- significant problem in NF-1
- *differentiate neurofibrosarcoma
or malig. schwannoma
- *high incidence of
pheochromocytoma, rhabdomyosarcoma, leukemia, Wilms tumor
9) abnormal brain MRI
- abnormal signals in the globus pallidus, thalamus
Neurofibromatosis Type 2 (10% Of NF)
# diagnostic criteria
; one of following sign
1) bilateral 8th N. masses consistent with acoustic neuroma
2) parent, sibling, or child with NF-2 and either unilat 8th N. masses or any two of following
- neurofibroma, meningioma, glioma, schwannoma, juvenile post.subcapsular lenticular opacities
# ★Bilateral
Acoustic Neuroma
; *▲distinctive feature
; hearing loss, facial weakness, headache, unsteadiness during childhood
; cerebellopontine angle mass in 2nd & 3rd decade
# less common cafe-au-lait spot, neurofibroma
# posterior subcapsular lens opacities
; 50%
# CNS tumor
; schwann cell & glial tumors, meningioma
# gene for NF-2
;
near the center of long arm of *chromosome 22q1.11
Treatment
; no specific treatment
1. genetic counselling
2. early detection of treatable conditons or complications
; baseline study
- audiogram
- auditory brain stem & visual evoked potential
- EEG
- psychologic testing
- roentgenographic skeletal survey
- CT scan or MRI of brain & optic n.
; asymptomatic patient
- annually re-exam with neurologic assessment
~ BP, auditory & visual screening
# A parent with NF
; 50% chance of transmitting the ds with each preg.
# one half of all case
; fresh mutation
# Standard DNA diagnosis
; not practical for NF-1
--> due to large size gene, significant number of mutaion
; examed in NF-2
--> single-strand conformational polymorphism of altered DNA sequence
546.2 Tuberous sclerosis
; autosomal dominant
- one half sporadic
; 1/30,000
; *gene - chromosome 9q34
; *extremely heterogeneous disease
; younger Sx & Sg
--> greater mental retardation
Pathology
# Tubers
; characteristic brain lesion
; in convulutions of the cerebral hemispheres & subependymal region
; undergo calcification & projection into the ventricular cavity
--> ★candle-dripping appearance
; in ther foramen of Monro
--> obstruction of CSF flow
--> hydrocephalus
; microscopic appearance
- decreased numbers of neurons & proliferation of astrocytes
- oddly shaped multinucleated giant neurons
; greater numbers of tubers
--> more neurologically impaired
Clinical Manifestation
# Infancy
; *infantile spasm & hypsarrhythmic EEG pattern
; typical hypopigmented skin lesion on trunk & extremities
-
★”ash leaf spot”
- 90%
- enhanced by Wood's UV lamp
; calcified tubers in the periventricular area in CT scan
- may not apparent until 3-4yr
; seizure
- difficult to control
- develop into myoclonic epilepsy later age
; high incidence of mental retardation
# Childhood
; generalized seizure
; ★sebaceous adenoma
-
*develop between 4-6yr
- *tiny red nodules over nose &
cheek
- enlarge coalesce --> fleshy appearence
;
★shagreen patch
- roughened,raised lesion with an orange-peel consistency located in lumbosacral region
; subungual or periungual fibroma
- arise from stratum lucidum of finger & toe
; retinal lesion
- mulberry tumors that arise from the nerve head
- round & flat gray-colored lesion in disk
(phakoma)
6. NF에 비해 brain tumor는 드물지만
종종 tuber --> malig.astrocytoma로 진행
7. 50% : rhabdomyoma of heart
- maybe multiple or located at the apex of left ventricle
- CHF & arrhythmia
8. kidney involve : 대부분
; harmatoma or polycystic disease
- hematuria,pain,renal failure
9. angiomyolipoma
- generalized cystic or fibrous pul. changes in lung
-> spontaneous pneumothorax
Diagnosis
1. relies on high index of suspicion when
assessing a child with infantile spasm
2. typical skin,retinal lesions observation in
all patients with seizure disorder
3. 확진 : head CT scan or MRI
Treatment
1. seizure control
2. baseline study
; renal US,echocardiogram,chest roentgenogram
with follow-up
3. ICP 증가 Sx & Sg
- obst. of foramen Monro by tuber -+- suggest
malig. transformation of tuber -+
546.3 Sturge-Weber Disease
1. facial nevus(port-wine stain)
2. seizures
3. hemiparesis
4. intracranial calcification
5. M.R.
* sporadic - 1/50,000
Etiology
; anomalous development of primordial vascular bed
during early stages of cerebral vascularization
Clinical Manifestation
;
★facial nevus
- at birth
- unilateral
- always involve upper face & eyelids
- over lower face,trunk,in mucosa of mouth & pharynx
;
*buphthalmos & glaucoma of
ipsilat. eye
; seizure during 1yr
- refractory to anticonvulsants
- focal,tonic-clonic & contralat. to side of facial nevus
; slowly progrssive hemiparesis
; M.R. or severe learning disabilities
- at least 50% during later childhood
Diagnosis
1. skull radiography
- intracranial calcification in occipitoparietal
region in most patients
"serpentine" or "railroad-track" appearance
2. CT scan
- extent of calcification
; unilat. cortical atropy
& ipsilat. dilatation of lat. ventricle과 동반
Treatment
1. recalcitrant seizure시 hemispherectomy or
lobectomy -- prevent development of M.R.( 특히 OP ; 1세동안 시행시)
2. regular measurement of intraocular pr.
3. flashlamp-pulsed laser therapy to facial nevus
4. special educational facilities
546.4 Von Hippel-Lindau Disease
- A.D. gene 3p25
Cerebellar hemangioblastoma
1. present in early adult life or beyond with
Sx & Sg of IICP
* spinal cord의 hemangioblastoma
-- abnormalities of proprioception
& disturbances of gait & bladder dysfunction
2. CT scan ; cystic lesion with a vascular mural nodule
3. totoal surgical removal of tm ; curatve
4. 25%에서 retinal angiomata 동반
2) Retinal angiomata
1. small masses of thin-walled capillaries
that are fed by large & tortuous arterioles & venules
2. peripheral retina에 위치
- vision is unaffected
but exudation
- retinal detachment & visual loss ; good results
3. Tx ; photocoagulation & cryocoagulation
3) Ex : cystic lesions of kidney,pancreas,liver,epididymis
pheochromocytoma를 잘 동반
* TMC cause of death -- renal carcinoma
546.5 Linear Nevus Syndrome
; 특징 1) facial nevus
1. forehead & nose (midline distribution 경향)
2. quite faint during infancy
-- later become hyperkeratotic
with a yellow-brown appearance
2) neurodevelopmental abnormalities
1. 1/2 이상에서 seizure disorder & M.R.
(generalized myoclonic or focal motor)
2. CT ; 대부분 정상
but, hemimegalencephaly with harmatomatous change
3. focal neurologic signs
; hemiparesis & homonymous hemiamopsia
Chapter 547. Movement Disorder
547.1 Ataxias
Congenital Anomalies Of Post. Fossa
1) Dandy-Walker syndrome
2) Chiari malformation
3) encephalocele
4) agenesis of cerebellar vermis
1. generalized hypotonia & decreased DTR
2. delayed motor milestones & truncal ataxia
3. A.R. ; familial variety(Joubert disease)
4. abnormalities of resp. during infancy
5. ataxia,M.R. & abnormal eye movement
Infectious Cause Of Ataxia
# cerebellar abscess
# acute labyrinthitis
- associated with middle-ear infections
- intense vertigo,vomiting,abnormalities in labyrinthine function
(ice water caloric testing)
# acute cerebellar ataxia
; 1-3yr
; *autoimmune response to viral agent affecting cbll
-
*varicella, coxsackie, echovirus
infection후 2-3wks에
발생
;
*sudden onset truncal ataxia
; *initially vomiting but no fever & nuchal rigidity
; horizontal nystagmus(50%), dysarthria
; CSF exam
- normal at onset of ataxia
- slightly pleocytosis of lymphocytes(10-30/mm3)
; not unusual
--> later CSF protein 증가
; Prognosis
- excellent
- ataxia는 수주후에 호전된다. : 2개월까지 지속되는 경우도 있다.
- small number long term sequelae
/ behavioral & speech disorders
/ ataxia
/incoordination
Toxic Cause Of Ataxia
; *alcohol,
thallium, anticonvulsants(esp. phenytoin)
Brain Tumor
cbll tm
frontal lobe tm ; cbll과 frontal lobe연결하는 fiber 파괴시
neuroblastoma
Metabolic Disorders
Abetalipoproteinemia(Bassen-Kornzweig Disease)
- benign in childhood with steatorrhea & failure to thrive
- blood smear
acanthocytosis
s-cholesterol ↓& TG ↓
s-B-lipoproteins ; absent
- neurologic sign ; late childhood에
Arginosuccinic Aciduria
Hartnup Disease
Degenerative Disease Of CNS
; important due to genetic consequence & poor Px
Ataxia Telangiectasia
; AR
; *▲common degenerative
ataxia
;
*gene on chromosome 11q 22.3-23.1
; ataxia
-
*begining at 1-2yr
- progression to loss of ambulation by adolescents
; *oculomotor apraxia
- difficulty fixating smoothly on objects
--> overshooting targets with lateral movement of head
--> re-fixing of eyes
; horizontal nystagmus
; telangiectasia
- mid-childhood
- on bulbar conjunctiva,nasal bridge,ear, exposed surface of extrem.
; skin - loss of elasticity
;
★Abnormalities Of Immunologic Function
- decreased serum & secretory Ig A
- diminished Ig G2,G4, IgE
- more than 50% of patients
; increased incidence of lymphoreticular tm, brain tm (50-100배)
; Chromosome break ( 특히 chromosome 14) 빈도 상승, A-FP 상승
; 사망 원인 : infection or tm. dissemination
Friedreich Ataxia
; AR or AD
-
*AR : chromosome 9q13-q21.1
; ataxia
- prior to 10yr
- ataxia telangiectasia보다는 늦다
- slowly progressive
- lower extrem > upper extrem
; *Romberg test(+), Nystagmus(+)
; DTR(-) : esp. Achilles
; extensor plantar response
; explosive, dysarthric speech
; apathetic, normal intelligence
; significant weakness of dist. musculature of hands & feet
; *marked loss of vibration & position sense owing to
degeneration of post. columns
; indistinct sensory change in dist. extrem
;
★skeletal abnormalities
- high-arched feet ( pes cavus), hammer toes, progressive kyphoscoliosis
; electrophysiologic study
- abnormal visual, auditory brain stem, somatosensory evokeded potential
; cause of deaths
- hypertrophic cardiomyopathy with progression to intractable CHF
Spinocerebellar Ataxia
Roussy-Levy Disease
; atrophy of muscle of the lower extrem
Ramsey-Hunt Syndrome
; Myoclonic epilepsy와 동반
Olivopontocerebellar Atrophies
; at least 5 familial subtypes dominant inheritance
; ataxia, cranial N. palsies, abn'l sensory findings in 2nd or 3rd decade
( children에서 일어나는 경우도 있다.
Finnish ancestry
recent classification of hereditary atxia
--> based on biochemical analysis
; aspartic acid
glutamic acid contents in inf. olive & purkinje's cell layer of cbll
--> significantly decreased
Others
: Vit E deficency
Pelizaeus-Merzabacher disease
Neuronal ceriod lipofuscinoses
late onset GM2 gangliosidosis
547.2 Chorea
Sydenham Chorea
;
*▲common acquired chorea of childhood
; Sole neurologic manifestation of Rheumatic fever
# 3 Major feature
1) chorea
2) hypotonia
3) emotional lability
Pathogenesis
; autoimmune response of CNS to strptococcal group A organism
·primary pathologic finding
; vasculitis of cortical arteries
·most prominently involved
; cerebral cortex, caudate nucleus, subthalamic nuclei
·chorea, functional overacting of dopaminergic system
# Chorea
1. 대개 symmetric
2. rapid & jerky
3. prominent in face, trunk, distal extremities
dart from one m. group to another
4. increased by stress, disappear during course
# typical signs
1. milkmaid's grip ( relaxing & tightening hand shake )
2. choreic hand ( spooning of extended hand by flexion at wrist
& extension of fingers)
3. darting tongue
( tongue - cannot be protruded for longer than a few seonds)
4. pronator sign ( 머리위로 잡을 때 팔과 손바닥을 바깥쪽으로 내는 것)
·수개월 지속 (1-2번까지)
·20% ; initial episode 후 recurrent chorea 경험
# incapacitating chorea 치료
1. diazepam ---+-- S/E : tardive dyskinesia
2. phenothiazanes or haloperidol -+
Familial Paroxysmal Kinesigenic Choreathetosis
--> daily PC prophylaxis (adult PC prophylaxis - adulthood까지)
Huntington Disease
; progressive degenerative disorder of CNS of unknown
; 1:10,000로 affect
Etiology
; AD
; *gene on tip of the long arm of chromosome 4p 16.3
Clinical Manifestation
1. progressive chorea & presenile dementia : 35-55세에 발병
( rare in pediatric population, 1% 이하 - 10세전에 onset )
2. TMC neurologic finding in pediatric patient
: rigidity & dystonia
3. chorea
- prox. m. involve
4. abnormal movements are often incorporated into semipurposeful acts
in attempt to mask the abnormality
5. M.R. & behavioral problem
6. GTC seizure - resistant to anticonvulsants
7. cbllar sg (50%) oculomotor apraxia(20%)
8. course : adult에 비해 rapid
(사망까지 8 yr --> children, 14yr --> adult)
* CT : mean bifrontal to bicaudate ratio ↓
<-- atrophy of caudate nucleus & putamen
* MRI : hyperdensity of putamen
547.3 Dystonias
: intermittent twisting motion that produces exaggerated turning &
posture of the extrem. & trunk
* CAUSE : 1) perinatal asphyxia
2) dystonia musculorum deformans
3) drugs
4) wilson disease
5) Hallervorden-spatz disease
Dystonia Musculorum Deformans
; children에 시작하는 slowly progressive disorder
; Eti : abnormality of catecholamine metabolism in CNS
(신) AD로 trait (Askenazi Jewish ; 1:1000의 incidence)
·gene : chr 9q34
* clinical manifestaion
1. initially unilateral posturing of the lower extremity
(esp. in foot)-tip-toe walking
2. dystonic movement : initially intermittent & exaggerated by stress
- 결국 all extremity & axial musculature, face & tongue muscle affeted
: impaired speech & swallowing
* Tx.
1. Trihexphenidyl(artane)
2mg/24hr --> 60-80mg/24hr or S/E가 나타날 때까지 천천히 증량
S/E : urinary retention, mental confusion, blurred vision
2. carbamazepine, levodopa, bromocriptine, diazepam
Dopa-Responsive Dystonia (DRD)
신) ·variant of childhood onset idiopathic torsion dystonia
·female : common
·present at mean age of 6.5 yr with dystonia
·respond : small daily dose (50-1000mg) of levo dopa
·dystonia - diurnal improving with sleep
·signs of Parkinson disease - ultimately become evident
·AD inheritance
Segmental Dystonia
·writer's clamp, blepharospasm, buccomandibular dystonia
·adult : more common
·특히 blepharospasm (adult)
--> local injetions of botulism toxin에 반응
·extremity involvement
; cryothalamectomy with placement of lesion in ventro lat. thalamus
Drugs
·Phenytoin, carbamazepine : 치료 용량에선 드물게 발생
·phenothiazine(idiosyncratic reaction)
-- Tx. : IV diphenhydramine 1-2mg/kg/dose ; rapidly reversed
Wilson Disease
: rare autosomal recessive inborn error copper metabolism
(1:40,000-1:100,000)
resulted in cirrhosis of liver, degenerative changes in CNS
(esp, in basal ganglia)
* gene : chromosome 13 close to esterase O & retinoblastoma locus
(신판 13q14,3)
* neurologic manifestation :
1) initial sign : progressive dystonia
2) tremors of extremity
: unilateral - coarse, generalized, incapicitating
: wing-beating tremor
3) sign of progressive basal ganglia destruction
: drooling, fixed smile, dysarthria, dysphonia, rigidity,
contracture, choreathetosis
4) Kayser-fleischer ring : pathognomonic (in slit lamp exam)
: result from deposition of copper in Descemet membrane
5) untreated state : bed-ridden, demented, dies in coma
within a few years from onset of disease
6) MRI or CT scan : ① ventricular dilatation
② in advanced case with atrophy of cerebrum
③ lesions in thalamus & basal ganglia
Hallervorden-Spatz Disease
: rare degenerative disorder, inherited as in A.R. trait
* clinical manifestation
1. progressive dystonia, rigidity, choreathetosis
-- appear in childhood
2. spasticity, extensor plantar response, dysarthria,
intellectual deterioration
-- evident during adolescence
3. death - in early adulthood
* CT scan : lesions of globus pallidus
* neuropathologic exam
: excessive accumulatio of iron-containing pigment
in globus pallidus & substantia nigra
Athetosis
·perinatal brain insults
·phenothiazine idiosyncracy의 major movement disorder
·choreathetosis
; after hypothalamic bypass surgery for congenital heart disease
·rigidity
progressive destruction of neurodegenerative conditions(Krabe ds.)에서
동반
Tremor
·involuntary movement
characterized by rhythmic oscillaries of part of body prominent
during rest or with movement
1. Jitteriness
; rhythmic tremors of equal amplitude around fixed axis
; mc involuntary movement of healthy full-term infant
·crying, exam시 잘 나타남
·infant가 awake, alert할 때 있거나 --+- abnormal
tremor가 생후 2주 이후에도 지속시 --+
·organic cause
sepsis
intracranial hemorrhage
hypoxic encephalopathy
hypoglycemia
hypocalcemia
hypomagnesemia
prenatal exposure to maternal marijuana
narcotic abstinence syndrome
2. Essential tremor
·AD
·childhood에서 시작, slowing progressive
·frequency of 4-9 Hz
·주로 distal upper extremities에 affect
·postural & disappear with rest
·writing, activities of daily living difficulty야기시
--> propranolol hydrochloride or primidone trial
--> favorable response
3. primary writing tremor
·writing시에만 tremor 야기
·jerky tremor
·often response to beta-blockers or anticholinergics
4. Tremor야기하는 drugs
·amphetamine
·valproic acid
·neuroleptics
·tricyclic antidepressants
·caffeine
·theophylline
5. Metabolic disease의 initial manifestation
·hypoglycemia
·thyrotoxicosis
·neuroblastoma
·pheochromocytoma
6. Severe head injury후 회복시
·proximal tremor
·enhanced by movement
·respond to propranolol
7. Wilson's disease
postural tremor associated kinetic movements
8. Hereditary dystonia parkinsonism dyndrome
proximal tremor 때때로 야기
547.4 Tics
·spasmodic, repetitive, stereotyped movements
-- non-rhythmic, exacerbated by stress
# ★3
Group
1) transient tic disorder
-- TMC movement abnormality of childhood
-- male predominant to female, family history (+)
clinical manifestation
- eyeblinking or facial movements & occasional throat-clearing noise
- persist from few weeks to less than 1 year
- need not drug therapy
2) chronic motor tic disprder
- children에서 occur & adult life동안 지속
- involved up to 3 muscle group simultaneously & occur throughout life
- no clear family history or sex prevalence
3) Gilles de la Tourette syndrome(TS)
·life-long condition, onset age : 2-21 years, 1:2000 prevalence
·AD : gene ch 18q 22.1
·4 components
① motor tics
② vocal tics
③ obsessive compulsive behavior
④ attention deficit hyperactivity disorder (ADHD)
Clinical Manifestation
1) Motor tics ; associated with numerous fluctuating tics of face, eye,
neck, shoulder
2) Vocal tics ; accompanied by vocalization - uncontrollable
: throat-clearing, sniffling, coughing, barking, coprolalia(외설증)
echolalia, palilalia, echokinesis
3) compulsive behavior
; touching, licking, repetitive thoughts, motor actions
4) ADD ( in more than 50%)
* treatment (motor tics or vocalizations에는 medication 고려해야 한다.)
1) behavior management & biofeedback program
2) haloperidol : effective in more than 50%
-- 0.25mg/24hr ---+-- weekly by 0.25mg
+-- up to 2-6mg/24hr
S/E : cognitive impairment, lethargy, fatigue, depression
restlessness, EPS, tardive dyskinesia, acute dystonic reaction,
akathisia
3) penfluridol, pimozide, clonidine
신) * clonidine
·α2-adrenergic agonist
·0.05mg/24hr에 시작
--> max. 0.125-0.2mg/24hr
·vocal & motor tics control위해 몇 주간 필요
·S/E : lethargy, fatigue, drowsiness
Chapter 548. Encephalopathies
548.1 Cerebral Palsy
: static encephalopathy
- nonprogressive disorder of posture and movement,
often associatcd with epilepsy and speech, vision, and intellect
resulting from a defect or lesion of the developing brain
- prevalencc : 2/1,000
Epidemiology And Etiology
Clinical Manifestations
★Table
548-1
- associated with spectrum of developmental disabilities
; M.R., epilepsy,visual,hearing,speech,
cognitive, and behavioral abnormalitics
Spastic Hemiplesia
a) decreased spontaneous movements on the affectcd side
b) very early age : hand preference
arm > leg
at 1 yr of age, obvious and in difficulty in hand manipulation
in 18-24mo., delayed walking , circumductive gait
c) growth arrest in the hand and thumb nail, esp.if contralateral
parietal lobe is abnormal
d) affected extremities : spastic(esp. squinovarus deformity in ankle)
e) often tip-toe walking & dystonic posture during running
in affected upper extremity
f) ankle clonus, Babinski sign, increased DTR, weakness of
hand and foot dorsiflexions
g) in 1/3 in patients - seizure disorder (during 1-2 year)
h) in 25% in patient - cognitive abnormalities (M.R.)
i) CT scan or MRI : atrophic cerebral hemisphere with a dilated
lateral ventricle contralateral to the side of affected
extremities
Spastic Diplegia
; bilateral spasticity of the legs
a) often noted in crawling
- drag the legs behind more as a rudder rather than
using the normal 4 stance crawling movement
b) in severe spastic case, application of a diaper is difficult
due to excessive adduction of the hips
c) spasticity in legs with brisk reflexes, ankle clonus,
and a bilateral Babinski sign.
d) axillary hanging시 scissoring posture of the lower extremities
e) delayed walking, equinovarus, tiptoe walking
f) disuse atrophy and impaired growth of the lower extremities
disproportionate growth with normal development of the
upper torso
g) normal intellectual development : excellent
Px for seizures : minimal
h) neuropathologic finding : periventricular leukomalacia
-> premature infant에서
Spastic Quadriplegia
a) most severe form of CP
: marked motor impairment of all extremities
and high association with mental retardation & seizures
b) supranuclear bulbar palsy
: swallowing difficulties, aspiration pneumonia
c) autopsy finding
: disruptd central white matter by areas of necrotic degeneration
d) neuroloig exam
: increased tone and spasticity in all extremities,
decreased spontaneous movements, brisk reflexes,
plantar extensor responses
e) late childhood : flexion contracture of the knees & elbows
f) associatecl developmental disabilitles - speech and visual abnormalities
g) often have evidence of athetosis - mixed CE로 분류되기도
Athetoid CP
a) relatively rare
b) hypotonia, poor head control, marked head lag
c) feeding difficulty & tongue thrust and drooling
d) athetoid movements(evident after 1 yeras)
& coincide with hypermyelination of basal ganglia
: status marmoratus
e) speech abnormality (oropharyngeal muscle involved)
-- slurred sentences,impaired voice modulation
f) no UMN sign
uncommon seizures,preserved intellect
Diagnosis
1. Hx
2. P/E
3. baseline electroencephalogram (EEG)
4. CT scan
5.tests of hearing and visual function
Treatment
1. spasticity ; dantrolene sodium,benzodiazepine,baclofen
2. athetosis ; levodopa
3. dystonia ; carbamazepine,trihexyphenidyl
548.2 Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathy, Lactic Acidosis, & Stroke-Like
Episodes (MELAS)
Clinical Manifestation
;
*normal for first several years
- gradually delayed motor & cognitive development
; *short stature & focal or generalized seizure disorder
; acte hemiparesis due to stroke
; clinical course
- hemiparesis, hemianopia, cortical blindness,dementia
; postmortem study
- ★focal encephalomalacia, cortical microcystic liquefaction,
& basal ganglia calcifications
Laboratory Finding
; acute episodes
- increased serum LDH
; CT finding
- basal ganglia caicification & lucent areas that do not respond to specific cerebral vv.
;
★muscle biopsy
-
*ragged-red fibers
Diagnosis
;
★point mutation at nt 3243 in tRNALeu(UUR) gene of mtDNA
; biochemical study of m.
- complex I deficiency
Prognosis
; dismal
Treatment
;
*therapeutic trials of
corticosteroids and CoQ10
;
★dichloroacetate
- lowering the serum lactate concentration
- marked clinical improvement
Myoclonus Epilepsy & Ragged-Red Fiber(MERRF)
Clinical Manifestation
; normal during early years
;
*myoclonic epilepsy &
progressive ataxia associated with dysarthria, nystagmus
; a few optic atrophy
; *deep sensation abnormality & pes cavus
- confused with Friedreich ataxia
; dementia, hearing loss, pph neuropathy, spasticity
; slowly progressive intellectual deterioration
; FHx(+), short stature
Diagnosis
; pathologic findings
- increased serum LDH
- ragged-red fibers in muscle biopsy
- *marked loss & degeneration of
dendate nucleus & inf. olivary complex with drop out of purkinje cells and
neurons of red nuclus
;
*normal cerebral cortex, white
matter
;
★point mutation at nt 8344 in the tRNALys gene of mt
DNA
Kearns-Sayre Syndrome (KSS)
# ★Triads
1) onset before 20 year
2) progressive external ophthalmoplegia
3) *pigmentary retinopathy
# at least one of the following
;
*heart block, cerebellar syndrome,
CSF protein above 100mg/dl
# other nonspecific but common features
;
*dementia, sensorineural hearing
loss, endocrine abnormalities
;
*short stature, DM,
hypoparathyroidism
Diagnosis
;
*ragged-red fiber with variant
number of COX(-)fiber
; *mtDNA deletion
Prognosis
; poor
Genetics Of Diseases Caused By Defects Of Mitochondrial DNA
# deletions and duplications, point mutations
# ★Three
Major Clinical Syndromes In The Group Of Deletions And Duplications
;
*Kearns-Sayre syndrome,
progressive external ophthalmoplegia with ragged-red fibers, Pearson
marrow/pancreas syndrome
; sporadic inheritance
# ★Group
Of Point Mutations
;
*Leber hereditary optic
neuroretinopathy, MELAS, MERRF, ATPase 6 mutation syndrome
; four maternally inherited diseases
; both sexes - equally affected
# threshold effect
; minimum critical No. of mutant genome necessary for expression of disease
Leigh Disease(Subacute Necrotizing Encephalomyelopathy)
* cause 1. defeciency of pyruvate dehydrogenas complex
2. defeciency of complex I
3. deficiency of complex IV of respiratory chain
* DDx of MELAS,MERRF,Kearns-Sayre syndrome
; sporadic or have strong element of material
inheritance by AR
* clinical manifastation
1. infancy -- feeding & swallowing problem,vomiting,FTT
2. delayed motor & language,generalized seizure
weakness,hypotonia,ataxia,nystagmus
3. intermittent respiration with associated sighing
or sobbing -- suggests brain stem dysfunction
4. some patient ; ext. ophthalmoplegia & decreased visual acuity
* pathologic finding
1. lesion - thalamus,basal ganglia,tegmental gray matter,
periventricular,periaqueductal region of brain stem,
post. column of spinal cord
2. scatterd focus of necrosis & capillary proliferation
* CT scan finding
: bilaterally symmetric area of low attenuation in
basal ganglia
* serum LDH : increased ; pathognomic
* thiamine : temporary improvement in some cases
(구) * most patients die within 6 mo. of onset of symptom
-- a few patients ; prolonged period of remission
Reye Syndrome
548.3 Other Encephalopathies
Zellweger Syndrome (Cerebrohepatorenal Syndrome [CHRS])
; rare, lethal disorder
; A.R. trait
* clinical manifestation
1. dysmorphic facies - frontal bossing,large anterior fontanel,
flattened occiput,abnormal external ears,
high-arched palate, excessive skin folds of the neck
2. severe hypotonia, areflexia
3. eyes - nystagmoid movements, bilateral cataracts,optic atrophy
4. generalized seizures - evident early in life,
associated with severe global developmental delay
& significant bilateral hearing loss
5. prominent hepatomegaly - shortly after birth, often associated with
a history of prolonged neonatal jaundice
6. rarely survive beyond 1 yr of age
Acquired Immunodeficiency Syndrome (AIDS) Encephalopathy
; common manifestation of infants & children with HIV infection
; neurologic signs in congenitally infected patient
- appear during early infancy or maybe delayed to as late as 5 yr of age
; encephalopathy
- acute onset,relentless, progressive course. but in some cases
static or insidious deterioration
- arrest in brain growth, developmental delay,
and evolution of neurologic signs
Lead Encephalopathy
Burn Encephalopathy
; 5% of children with significant burns
during 1st several weeks of hospitalization
* cause : 1. anoxia
(smoke inhalation, CO poisoning, laryngospasm)
2. electrolyte abnormalities
3. bacteremia and sepsis
4. cortical vein thrombosis
5. concomitant head injury
6. cerebral edema
7. drug reactions
8. emotional distress
* clinical manifestation
1. seizures : TMC
2. altered states of consciousness, hallucinations, and coma
* prognosis : excellent
(particularly if seizures are the primary abnormality)
Hypertensive Encephalopathy
: most commonly associated with renal disease in children
-- AGN,chronic pyelonephritis, end-stage renal disease
: marked systemic hypertension
-- vasoconstriction of the cerebral vessels
-- vascular permeability, causing areas of local cerebral edema
and hemorrhage
* clinical manifestation
1. onset : acute, with seizures & coma,
more indolent, with headache, drowsiness and lethargy,
nausea & vomiting, blurred vision, transient cortical
blindness and hemiparesis
2. eyeground exam. ; normal in children
-- papilledema, retinal hemorrhages may occur
Radiation Encephalopathy
1. acute radiation encephalopathy
a) in young patients who received large daily doses
b) vessel endothelial injury
- enhanced vascular permeability, cerebral edema,
and multiple hemorrhages
c) clinical manifestation
- suddenly become irritable and lethargic,headache
- focal neurologic signs and seizures
- hemiparesis due to infarct secondary to vascular occlusion
of the cerebral vessels
d) Tx : steroid - often beneficial in reducing the cerebral edema
and reversing the neurologic signs
2. late radiation encephalopathy
a) develops months to years after completion of therapy
b) rare in children
c) Cl/m
- headaches,slowly progressive focal neurologic signs
(hemiparesis & seizure)
d) CT scan ; cerebral atrophy & low-density lesion
Chapter 549. Coma In Childhood
# coma
; state of unconsciousness from which the chils cannot be aroused by ordinary verbal, sensory, or physical stimuli
; Glascow coma scale
- less than 7 point : intubation & respirator
- less than 5 point : grave prognosis
- 5 - 8 point : better Px. in child than in adult
# ★ARAS
(ascending reticular activating system)
;
*각성
상태를 관장
Etiology
★Table
549-1
;
*head injuty - ▲common
Management
1. airway keep & cardiorespiratory system assess
2. Glascow coma scale
3. Hx
4. P/E
5. IV line keep & blood sampling for CBC,electrolyte,Ca.P
glucose,creatinine,ammonia,ABGA,LFT,PT,PTT,toxic screen
& 5 ml of heparinized blood
-- if needs, for screening for metabolic cause
6. dextrostix -- if hypoglycemia, 25% dextrose iv (2ml/kg)
7. urinary catheter insertion
-- check for urine volume & samlpe for glucose & ketone
8. nasogastric tube insertion
-- empty the stomach & prevent aspiration & analysis
the gastric content
# Principle Of Therapy
1. maintenance of the respiratory status
2. normalization of cardiovascular function
3. correction of the acid-base,fluid electrolyte abnormality
4. control of the seizure,IICP,hyperthermia,hypothermia
* PRIMARY GOAL OF TREATMENT
1. identify the specific cause of coma
2. correct the problem in safe & controlled fashion
# structural cause of coma
; concussion,contusion,subdural & epidural hematoma
cerebral edema,brain tumor,cerebral abscees
# Invasive intracranial pressure monitoring
1) Ix. : 1. any infant or child with nontraumatic coma
2. suspected increase in ICP to assess cerebral perfusion
2) cerebral perfusion
-- difference between mean arterial pr. & mean ICP
3) ICP 15mmHg이하 or cerebral perfusion pressure 50mmHg이상 유지시
--> neurologic outcome is improved
ICP 50mmHg이상 or cerebral perfusion pressure 40mmHg이하
--> poor outcome & death
# ICP를 낮추는 방법
1) paralysis & sedation with pancuronium,phenobarbital,
morphine,& diazepam
2) machanical hyperventilation(PaCO2 30 - 35mmHg이하로)
3) osmotherapy with IV mannitol,furosemide
4) drainage of CSF through the ventricular catheter
5) infusion of colloid or dopamine
-- increased cerebral perfusion pressure &
increased systemic arterial pressure
6) induction phenobarbital coma & steroid
-- no effect in prognosis in comatose child
# Some indication of the outcome before inducing paralysis & placemant of respirator
1) severity of coma (modified Glasgow scale)
2) eye movement
3) pupil reaction
; - 동공반사가 정상 - midbrain이 정상
- 중뇌 손상 - 동공 산대, 대광 반사 (-)
- pinpoint pupil - opiate중독,barbiturate혼수,
pons에 병변,organophosphate,
phencycline
- 편측동공의 산대및 고정 ; 3 뇌신경의 압박에 기인
ipsilat. uncal herniation시 잘생김
4) level of BP,temperature
5) motor pattern
6) seizure pattern
7) EEG
8) neurophysiologic study
; brain stem auditory,visual,somatosensory evoked potential
- 모든 wave form없을때
--> death or severe neurologic residua
# ♥Poor
Prognostic EEG Pattern
1) burst suppression
2) alpha-like activity
3) very low amplitude activity for age
4) electrocerebral silence
# ★Good
prognotic EEG pattern
;
*reappearance of normal sleep
spindles
# ♣Somatosensory
Evoked Potential
; *▲sensitive &
reliable method for evaluation of the neurologic outcome
;
*within 1wk
- normal SEP : normal outcome in 93% of case
- absent SEP : poor outcome in 100% of case
- asymmetric SEPs : hemiparesis sequelae in 100% of case
Chapter 550. Brain Death
# ♥Diagnosis
1) exclusion of possibility for recovery of all brain function
2) cessation of all brain fhnctions are documented for an appropriate period of observation or trial of therapy
3) ★Physical Examination Criteria
;
patient must be *comatose, apneic,
normothermic and normotensive with absence of vocalization and volitional
movement
- apnea
/ absence of spontaneous respirations despite an adequate CO2 stimulus (i.e., 45-60 mm Hg)
;
*brain stem responses must be
absent
- pupils
/ midposition or fully dilated
/ no direct or consensual pupillary response to a bright light
- no spontaneous eye movements(ice water caloric stimulation)
- no lateral eye monement with head turning
; *no spontaneous movement(except spinal cord reflex, withdrawal, myoclonus)
& generalized flaccidity
# Lab. study
; to establish the cause of the coma & to specifically exclude a remedial condition (toxic, metabolic, paralytic, sedative cause)
# EEG
; period of electrocerebral silence utilizing standard technique
# Cerebral radionucleide angiogram
; absence of carotid circulation
Persistent Vegetative State(PVS)
1. Def.
state of "wakefulness without awareness"
or "permanent unconsciousness"
2. term PVS
; lack of neurologic recovery over a period of at least 6 mo,
with preservation of only autonomic nervous system vital functions
(cardiac action. blood pressure. and respiration)
3. - eyes ; move spontaneously
inconsistent tracking
- lack of voluntary movement
(withdraw from noxious stimuli 가능하기도)
- cognitive function ; absent
no language & unable to follow or comprehend commands
- sleep-wake cycles ; present
- brain stem reflexes(sucking, chewing. and swallowing) ; intact
- pupils ; react to light & grasp
- oculocephalic & tendon reflexes ; present
4. 원인
trauma. meningitis, asphyxia. aborted sudden infant death syndrome,
near drowning, and congenital malformations of the brain
5. diagnosis
; neurologic examination and assessment of higher cortical function
in children beyond 2 yr of age
(2세전 cognitive function과 언어 assess하기 어려우므로)
6. EEG ; residual activity
neuroimage ; cortical atropy
(neurologic outcome 예측할만한 test (-))
7. pathologic exam
; extensive damage of forebrain structure
with sparing of the brain stem
8.Tx (supportive)
- adequate fluids and nutrition
- management of pain and discomfort
- provision of a comfortable and nurturing environment
Chapter 551. Head Injuries
Skull Fractures
; not imply injuty to underlying brain
Linear And Nondepressed Skull Fracture
outcome in most cases - excellent
serious consequences
- if fracture traverses the groove of the meningeal vessels, the sagittal sinus, or the lambdoid suture
leptomeningeal cyst
1. rare, late complication of a linear skull fracture
2. slowly expanding pulsatile mass on the surface of the skull
3. cause ; protrusion of leptomeninges and traumatized brain
through the interrupted dura & skull fracture
and expansion by the propulsion of CSF into the cyst
by the pulsating brain
Basilar Skull Fractures
; difficult to demonstrate by radiologic examination
* Cl/m
a) temporal bone fractured - common
-- bloody discharge from middle ear (hematotympanum)
ecchymosis overlying the mastoid (Battle sign)
b) cranial nerve palsy
(particularly injury to the facial and auditory cranial nerves)
c) basal ant. fossa fracture
-- bilateral ecchymosis and swelling of the upper eyelids
(raceoon's eye sign)
d) fracture of the sphenoid bone
-- damage oculomotor, trochlear, and abducens nerves
e) CSF otorrhea ; stop within 24-48 hr
CSF rhinorrhea ; rarely spontaneously arrest
* DDx with nasal discharge
1. clear fluid
2. tends to be profuse (particularly in sitting)
3. positive for glucose using dextrostix
-- if persists longer than 14 days,needs surgical repair
complication ; bacterial meningitis(strep.pneumonia)
-- open defect between the nasopharynx or mid ear & brain
-- prophylactic antibiotics ; controversial
(rarely use during 1st week of CSF rhinorrhea)
Depressed Skull Fracture
* OP. indication : 1. neurologic deficits
2. compound wound
3. depression more than 3 - 5mm in depth
* HEAD INJURY에서 SKULL ROENTGENOGRAM이 필요한 경우
1. 5세 이하(because of unreliability of Hx & neurologic exam)
2. cephalohematoma
3. prolonged unconsciousness
4. penetrating scalp wound
5. palpable bony defects
6. focal neurologic signs (irregular pupil,hemiparesis)
7. discharge from the nose or ear
8. discolored tympanic membrane
9. blackened eyes
10. symptoms and signs of increased intracranial pressure
Concussion
; brief but variable & reversible alteration in the level of consciousness
; associated with transient paralysis of reflexes & amnesia for the events
immediately surrounding the injury
; ♥Indication For Concern Following Concussion & Justify
Hospitalization
1) deterioration in the level of consciousness
2) persistence of confusion & lethargy
3) excessive & copious vomiting
4) unwitnessed or uncertain history of trauma
5) focal neurologic sg.
6) seizure
7) any child with a confirmed skull fracture
Subdubal Hematoma
;
collection of bloody fluid between the dura & cerebral mantle resulting
from *rupture of bridging cortical
veins that drain the cerebral cortex
; *physically abused infant
- suscptible to this type
Acute Subdural Hematoma
* Infantile subdural hematoma
- during the first 6 mo
- Cl/m ;
1. focal or generalized convulsion
2. poor feeding, FTT, irritability, lethargy, vomiting, and fever
3. tense and bulging ant. fontanel & enlarged head circumference
4. settig-sun eye due to IICP
5. eyegrounds exam. - 50% 이상에서 retinal or subhyaloid hemorrhages
* CT scan or MRI finding
; hyperdense image that may be indistinguishable from the surrounding bone
( # chronic subdural hematoma - hypodense & readily,identified)
* Px for recovery
; poor(because of cbr. insult)
Chronic Subdural Hematoma
- infant & elderly adult ; because of discrepancy between the size of
the brain & skull
- tend to be bilateral in younger children
- Cl/f ; 1. increasing head circumf.
2. headache
3. dullness
4. personality change
5. focal convulsion
6. sudden loss of consciousness
7. signs of IICP
Epidural Hematoma
; bleeding into extradural space from rupture of the middle meningeal a. or a tear in dural veins owing to direct trauma to region of the temporal bone
compression of the temporal lobe
--> herniation of uncus ; life-threatening condition
Cl/f ; 1. after injury : brief period of unconsciousness
-> variable lucid interval from minutes to days
2. hematoma impinges on the temporal lobe
-> progressive loss of consciousness associated with vomiting,
a severe headache,& focal neurologic signs
(ipsilateral dilatation of pupil),
complete 3rd-nerve paresis, contralat.hemiparesis,
and papilledema(20%)
CT scan ; diagnostic
--> hyperdense biconcave image
Px
; excellent if the diagnosis is made early with prompt surgical evacuation
Severe Head Injuries
* major insults to brain
1. contusion (frontal lobes,inferolat. portion of the temporal lobes)
2. penetrating injury
3. presence of an intracerebral hemorrhage
4. diffuse axonal injury due to shear forces
* initial sg. associated with a poor Px.
1. fixed & dilated pupils
2. apneic breathing
3. decorticate posture
4. Glasgow coma scale
(신)* severe head injury시 충분한 radiologic study있을때까지
spinal cord injury 고려해야함
Treatment
* Management of cbr. edema
1. adequate oxygenation
2. elevation of the head of the bed to 30 degrees
3. judicious use of isotonic IV fluids - SIADH 주의
4. hyperventilation & maintain PCO2 30-35 mmHg
5. hyperosmolar agents
- mannitol IV in 20% solution 1-1.5g/kg/dose
--> 0.25-0.5 g/kg
(serum Osm.320mOsm/l 이하로 유지)
6. ICP monitoring
7. glucocorticoid, hypothermia, barbiturate coma
- serious head injury management에 더 이상 사용되지 않는다
* Post-traumatic seizure
1) early post-traumatic seizure
1. within 24 - 48hr. after injury
2. result from cbr. edema,petechial & hemorrhagic lesion,penitrating wound
3. status epilepticus시 iv phenytoin recommand load 15 - 20mg/kg
--> 5-10mg/kg/day (phenytoin dose not alter the level of consciousness
in a neurologically compromised patient)
2) late post-traumatic seizure
1. within 2yr after injury
2. severe original trauma to brain & dura disruption
-- increased risk
3. anticonvulsant prophylaxix ; 대부분은 필요치 않다
단, brief seizure(사고후 몇 시간내) 제외
입원동안 seizure attack ; anticonvulsant for 2-3mo
--> if, seizure recur ; more prolonged period
4. localized glial scar에 의한 seizure ; unresponsive to anticonvulsant
& require surgical extirpation
Prognosis
;
★▲Important Determinant Of Neurologic & Intellectual Recovery
- *duration of coma
- recovery from coma within 14days
--> normal or near-normal cognitive & neuromotor function
- 2세 이하 infant with major brain trauma : poor Px
; 1. immature autoregulation of cbr.bl.vv.
2. greater susceptibility of incompletely myelinated brain to
irreversible injury
3. open cranial suture -> greater distortion among meniges,cbr.vv.,
underlying brain
- most common cognitive sequela of significant head injury in child &
adolescent : abnormality of short-term memory
(storage & retrieval of important information)
(신)- most sensitive & specific indicator of neurologic recovery during
acute & early stage of head injury
--> evaluation with somatosensory evoked potentials
* post-traumatic syndrome
- may occur in children following relatively minor head trauma
- cl/f ; hyperactivity, decreased attention span, temper outbursts,
sleep disturbances, moodiness, and discipline problems.
dizziness and headaches
Chapter 552. Neurodegenerative Disorders Of Childhood
* hallmark
; progressive deterioration of neurologic function with loss of speech,
vision, hearing, or locomotion, often associated with seizures,
feeding difficulties, impairment of intellect
* white matter involve - prominent UMN sg.
gray matter involve - convulsion,intellectual,visual impairment
* p1724, table 552-1
552.1 Sphingolipidoses
; intracellular storage of normal lipid component of the cell membrane owing to a defect in the catabolism of the compound
# subclassification of spingolipidoses
1. Niemann-Pick disease
2. Gaucher disease
3. GM1 gangliosidosis
4. GM2 gangliosidosis
5. Krabbe disease
6. Metachromatic leukodystrophy
★Table
552-1
Gangliosidoses
Gm1
Gangliosidoses
; AR
* 3 subtypes
+- type 1 ; infantile
+- type 2 ; juvenile
+- type 3 ; adult
* gene ; chr. 3p14.2
* prenatal Dx ; measurement of acid β-galactosidase in
cultured amniotic cells
Infantile GM1 Gangliosidosis
; at birth or during neonatal period
- anorexia, poor suck, inadequate weight gain
; retarded development, generalized seizures
; phenotype
-
*similar to Hurler syndrome
-
*coarse face, prominent forehead,
depressed nasal bridge,macroglossia, hypertrophied gum
- hepatosplenomegaly due to accumulation of foamy histiocyte
- kyphoscoliosis : ant. beaking of vertebral bodies
; neurologic examination
- apathy, progressive blindness, deafness, spastic quadripiegia, decerebrate rigidity
; cherry red spot in the macular region (50%)
- opaque ring (sphingolipid-laden retinal ganglion cells)
- encircling the normal red-colored fovea
; rarely survive beyond 2-3 yr of age
; cause of death - aspiration pneumonia
Juvenile GM1 Gangliosidosis
1. delayed onset beginning about 1 yr of age
2. initial symptoms
; incoordination, weakness, ataxia, and regression of language
3. convulsions, spasticity, decerebrate rigidity, and blindness
4. infantile typy과는 달리 H-Smegaly, coarse face는 없다.
but, radiology of lumbar vertebra may show minor beaking
5. rarely survive beyond 10 yr
Adult GM1 Gangliosidosis
slowly progressive disease -- spasticity, ataxia, dysarthria,
gradual loss of cognitive function
GM2
Gangliosidoses
; AR
# subtypes
1) Tay-Sachs disease (TSD)
2) Sandhoff disease
3) juvenile GM2 gangliosidosis
4) adult GM2 gangliosidosis
TSD
;
*gene on chromosome 15q23-q24
;
*appear normal until approximately
6 mo of age
-
*except for a marked
"startle" reaction to noise
; lag in developmental milestones
- 1 yr of age, loses the ability to stand, sit, and vocalize
; early hypotonia
--> progressive spasticity & relentless deterioration
--> convulsions, blindness, deafness, cherry-red spots in almost all patients
;
*macrocephaly by 1 yr of age due
to 200-300-fold deposition of GM2 gangliosides
; few children live beyond 3-4 yr of age
- cause of death : aspiration or bronchopneumonia
Sandhoff Disease
1. similar to TSD ; progressive loss of motor & language milestones
beginning at 6 mo of age
seizure, cherry red spot, macrocephaly, doll-like facies
(차이점 : splenomegaly)
2. VEP : normal early in the course of Sandhoff disease & TSD
--> become abnormal or absent as the disease progresses
- auditory brain stem responses (ABRs) ; prolonged latencies
3. 3세경 사망
(신)4. chromosome 5q 1.13
Juvenile GM2 Gangliosidosis
1. develops in midchildhood
; initially with clumsiness followed by ataxia
2. signs of spasticity, athetosis, loss of language, and seizures
3. progressive visual loss is associated with optic atrophy
(but, cherry red spots : rare)
4. 15세경 사망
Adult GM2 gangliosidosis
1. myriad of neurologic signs
; slowly progressive gait,ataxia, spasticity, dystonia,
proximal muscle atrophy, dysarthria
2. visual acuity & intellectual function : normal
Krabbe Disease (Globoid Cell Leukodystropy)
; AR
; *severe
myelin loss & presence of globoid bodies in the white matter
; *gene
on chromosome 14q21-q31
; *marked
deficiency of lysosomal enzyme galactocerebroside β-galatosidase
Clinical Manifestation
# early-onset KD
; evident during the 1st few months of life
- *excessive irritability & crying, unexplained episodes of
hyperpyrexia, feeding problems, vomiting, failure to thrive
- treated for colic or "milk allergy"
; generalized seizures
- early in the course
; alterations in body tone with rigidity & opisthotonus & visual inattentiveness owing to optic atrophy
; later stages
- blindness, deafness, absent DTR, decerebrate rigidity
; 2세경 expire
; non-enhanced CT scanning
-
*symmetric increased densities in
the caudate nuclei and thalami
# late-onset KD
1. beginning in childhood or during adolescence
2. optic atrophy & cortical blindness
(often confused with adrenoleukodystropy)
3. slowly progessive gait disturbance (spasticity,ataxia)
4. CSF exam : increase protein
VEPs ; decrease gradually in amplitude
with no response in the late stages of the disease
ABRs ; presence of only waves I & II
CT scans & MRI ; marked decrease in white matter
(esp. cerebellum & centrum semiovale),
with sparing of the subcortical u fibers
Metachromatic Leukodystrophy(MLD)
; disorder of myelin metabolism
; AR
; *deficiency
of arylsulfatase A
; *gene
on chromosome 22ql3-l3qter
# Pathophysiology
;
*accumulation of cerebroside
sulfate within myelin sheath of CNS & PNS
--> myelin breakdown and destruction of oligodentroglia
Late infantile(classic) MLD
;
*insidious onset of gait
disturbance between 1 & 2 yr of age
;
*initially awkward and frequently
falls
--> gradually locomotion is impaired
;
*extremities : hypotonic &
absent or diminished DTR
--> next several months
:
*cannot stand & deterioration
in intellectual function
; speech - slurred & dysarthric
; dull and apathetic appearance
;
*diminished visual fixation,
nystagmus, optic atrophy
; 1yr after onset
-
*unable to sit unsupported &
progressive decorticated postures
; pseudobulbar palsy -> impaired feeding,swallowing
; become stuporous & dies of aspiration or bronchopneumonia by 5-6 yr of age
Diagnosis
; progressive changes in VEPs, ABRs, SSEPs, NCVs of the peripheral nerves
- significantly reduced
; CT images
-
*diffuse symmetric attenuation of
the cbll & cbr white matter
; CSF exam - elevated protein content
Treatment
;
*bone marrow transplantation
; treated very early in the course of the disease
- favorable outcome
Juvenile MLD
1. late infantile MLD와의 차이점
: delayed onset of Sx ; 5-10 yr of age
2. deterioration in school performance & alterations in personality
--> incoordination of gait,urinary incontinence,dysarthria
3. muscle tone becomes increased, and ataxia, dystonia,tremor
4. during terminal stages
: GTC convulsions - prominent & difficult to control
5.midadolescence 이전에 expire
Adult MLD
1. occurs from the 2nd to 6th decade
2. abnormalities in memory,psychiatric disturbances,personality changes
-- prominent features
3. slowly progressive neurologic signs
--> bedridden state (decorticate postures,unresponsiveness)
552.2 Neuronal Ceroid Lipofuscinoses
; *▲common class of neurodegenerative diseases
; AR
; *storage
of autofluorescent substance within neurons & other tissues
Infantile type (Haltia-Santavuori)
; begins toward the end of the 1st year of life
-
*myoclonic seizures, intellectual
deterioration, blindness
;
*optic atrophy, brownish
discoloration of the macula, cerebellar ataxia
; electroretinograrn (ERG) : small amplitude or absent wave forms
; 10 세경 사망
; gene defect ; chr. 1p32
Late infantile (Jansky-Bielschowsky)
;
*▲common type
; 2 - 4 yr : myoclonic seizures
dementia,ataxia,progressive loss of visual acuity & microcephaly
retina : marked attenuation of vessels, peripheral black "bone spicule"
pigmentary abnormalities, optic atrophy, subtle brown pigment
in the macular region
ERG : abnormal early in the course
(owing to deposition of the abnormal storage substance within the rod
& cone area of the retina)
VEP : markedly enlarged responses followed by absent wave forms
with progression of the disease
E.M exam of the storage material in skin or conjunctival biopsies
- curvilinear bodies or "fingerprint profiles"
Juvenile Type (Spielmeyer-Vogt)
1. progressive visual loss & intellectual impairment beginning
between 5 - 10 yr
2. funduscopic change & ERG ; similar with late infantile type
3. VEP : small-amplitude waves,
later, absence of wave forms as the disease progresses
4. myoclonic seizure ; not prominent as in the late infantile type
5. dystonic posturing ; marked during the late stages
6. increased urine dolichol level ; nonspecific finding
7. ultrastructural abnormalities of skin biopsy - present in most case
(신)8. gene ; ch. 16p 12.1
552.3 Adrenoleukodystrophy
; a group of CNS degeneratire disorders asso. with adrenal cortical insufficiency & X-linked recessive transmission
Classic adrenoleukodystrophy (ALD)
; start symptomatic between 5 - 15 yr
-
*academic deterioration,
behavioral disturbance, gait abnormality
; generalized seizure common in early stage
;
★UMN sign
-
*spastic quadriparesis,
contracture, ataxia, marked swallowing disturbance due to pseudobulbar palsy
; hypoadrenalism(50%)
-
*abnormal skin pigmentation이 neurologic sx. onset전에 나타날수도
있다
; CT scan & MRI
-
*periventricular demyelination
beginning posteriorly, which advances progressively to the ant.regions of the
cerebral white matter
; ABRs,VEPs,SSEPs
- normal initially
--> ultimately prolonged latencies & abnormal wave forms
; neurologic sg. onset 후 10년 이내 사망
; gene on chromosome Xq28
Adrenomyeloneuropathy
1. slowly progressive spastic paraparesis, urinary incontinence,
impotence during the 3rd or 4th decade
2. adrenal insufficiency - childhood 때 부터 나타남
3. X-linked ADL의 management의 어려운 점
-- 같은 family내에서도 꽤 다른 임상 경과
ex) one affected male ; death by age 10 yr,
another affected male ; late-onset adrenomyeloneuropathy,
third ; no symptoms
Neonatal Adrenoleukodystrophy
1. marked hypotonia,severe psychomotor retardation,early onset of seizures
2. A.R
3. visual inattenlion 2' to optic atrophy
4. adrenal function tests : normal,
but post-mortem exam : adrenal atrophy is evident
5. correction of adrenal insufficiency
- ineffective in halting neurologic deterioration
552.4 Sialidosis
- A.R
- accumulation of sialic acid-oligosaccharide complex 2' to a deficiency in
lysosomal enz. neuraminidase
- urinary excretion of sialic acid-contaning oligosaccharide increase
1) Type 1
- coined with cherry-red spot - myoclonus synd.(CRSM)
1. 2nd decade ; visual deterioration
2. retina ; cherry red spot but TSD와는 달리, visual acuity declines slowly
3. myoclonus of extrem. - gradually progressive & debilitating
-> nonambulatory
- triggered by voluntary movement,touch,sound
- not controlled with anticonvulsants
4. generalized convulsions responsive to antiepileptic drugs
have been reported in most patients.
2) Type 2
1. onset age에 따라 infantile & juvenile form
2. cherry red spots,myocIonus,somatic involvement(coarse facial features,
corneal clouding,dysostosis multiplex,ant. beaking of lumbar vertebrae)
3. lymphocyte exam - vacuoles in cytoplasm
liver biopsy - cytoplasmic vacuoles in Kupffcr cells
membrane-bound vacuoles are found in Schwann cell cytoplasm
(신)4. some cases
- result of combined deficiencies of β-galactosidase and α-neuraminidase
due to deficiency of a "protective protein"
- Sx.은 isolated α-neuraminidase deficiency와 DDx하기 어렵다.
552.5 Miscellaneous Disorders
Multiple Sclerosis
; chronic & remitting disorder characterized by white matter lesions in the CNS separated by time and location
; rare in pediatfic population(onset before 10 yr ; 0.2-2% of all cases)
; greater female incidence than adult group
Clinical Manifestation
;
*unilat. weakness or ataxia
-
*▲frequent presenting Sx
; headache
- important early component of the disease,severe,prolonged, and generalized
; ill-defined paresthesias involving lower extremities, distal portions of the hands & feet, and face -- common
; visual sx
-
*diplopia, blurred vision, or
sudden visual loss due to optic neuritis
- early manifestations
; vertigo, dysarthria, sphincter disturbances
- relatively uncommon
;
★Neuromyelitis Optica (Devic Disease)
- variant of classic MS
-
*optic neuritis & transverse
myelitis
Pathology
1. demyelination with the formation of plaques
2. confirms diagnosis - autopsy finding
3 MRI :neuroimaging technique of choice; small plaques of 3-4 mm
(brain stem and spinal cord)
3) treatment
- supportive; neurogenic bladder management
corticosteroids -> long-term course 에는 영향이 없으나
acute attack시 recovery에 효과적
(신) - interferon β-lb sc ; decreasing disease activity & disease burden
4) prognosis : 성인과 유사
recovery is often complete, and progression of the disease tends
to be slow with long periods of remission in most cases
Pelizaeus-Merzbacher Disease
; group of disorder characterized by nystagmus & abnormalities of myelin
Etiology
;
*gene on chromosome Xq22
; classic form : X-linked recessive trait
Clinical Manifestation
; nystagmus & roving eye movement with head nodding during infant
; delayed development, ataxia, choreoathetosis, spasticity
; optic atropy & dysarthria
; 2nd or 3rd decade expire
Diagnosis
; molecular Dx : mutation analysis 이용하여 할수 있다
; pathologic finding
- loss of myelin with intact axons(defect in function of oligodendroglia)
; MRI scan
-
*symmetric pattern of delayed
myelination
; multimodal evoked potential study ; early stage - loss of waves III-V on the ABR
; VEPs ; prolonged latencies
; SSEPs ; absent cortical responses or delayed latencies
Alexander Disease
- progressive macrocephaly during the 1st year of life
- pathologic exam of brain ; deposition of eosinophilic hyaline bodies
in a perivascular distribution throughout the brain
and beneath the pia matter, white matter degeneration
- most prominent in the frontal lobes
- CT scan ; corresponding attenuation of the cerebral white matter
- progressive loss of intellect, spasticity,
and unresponsive seizures causing death by 5 yr of age
Canavan Spongy Degeneration
Menkes Disease
(kinky hair disease)
- sex-linked recessive trait ; defect in copper absorption & transport
across the gut
- progressive neurodegenerative condition
- gene ; ch Xq12-q13
1) Cl/f
1. hypothermia,hypotonia,generalized myoclonic seizures
; begine at 1st few months
2. distinctive facies ; chubby,rosy cheeks,kinky,colorless,friable hair
(microscopic exam of hair : trichorrhexis nodosa & pill torti)
3. feeding difficulty --> FTT
4. severe M.R. & optic atrophy ; constant features
2) Lab/f ; low serum copper & ceruloplasmin
3) Neuropathologic changes
1. tortuous cbr vv. 2' to defects in the intima
2. focal degeneration of the gray matter
3. marked changes in the cbll with loss of the internal granule cell layer
and necrosis of the Purkinje cells
4) Death - 3 yr of age (untreated patient)
5) Tx
1. Copper histidine therapy
; effective in preventing neurologic deterioration in some patients
(particularly if treatment is begun during the neonatal period)
2. Copper-histidine SC (50-150 μg elemental copper/kg/24hr)
for the duration of the child's life
--> Tx 2-3주 내 serum copper & ceruloplasmin levels 정상화
* occipital horn syndrome
- skeletal dysplasia caused by different mutations in the same gene
as that involved in Menkes disease
- mild disease
Rett Syndrome
:X-D
- incidence : 15,000 , only female
1) Cl/f
1. about 1 yr, regression of language & motor milestones ,
acquired microcephaly
2. early neurologic finding ; ataxic gait,fine tremor of hand movement
3. peculiar sighing,respirations with intermittent periods of apnea
associated with cyanosis
4. hallmark : repetitive hand-wringing movements & loss of purposeful
and spontaneous use of the hands(2-3 세 이후에 나타남)
5. autistic behavior : typical finding
6. GTC convulsions occur in the majority - well controlled by anticonvulsants
7. feeding disorders & poor weight gain
(신)8. death : during adolescence or 3rd decade
(신)9. cardiac arrhythmias - sudden,unexpected death
(신)10. postmortem : brain weight(60-80% of normal)
decrease in the number of synapses
decrease in dendritic length and branching
Subacute Sclerosing Panencephalitis(SSPE)
; *rare,
progressive slow-virus infection of the CNS caused by a measles-like virus
Clinical Manifestation
; *initially personality changes, aggressive behavior, impairment
of cognitive function
;
*myoclonic seizures
--> GTC convulsions, hypertonia, choreoathetosis
--> progressive bulbar palsy, hyperthermia, decerebrate postures
; papilledema(20%)
; mostly optic atropy, chorioretinitis, macular degeneration
; symptom oneset 1-2년 이내 사망
Diagnosis
# ★Typical
Clinical Course & One Of The Following
; measles antibody detected in the CSF
; EEG
- bursts of high-voltage slow waves interspersed with a normal background in the early stages
; typical histologic findings in the brain biopsy or postmortem specimen
Chapter 553. Acute Stroke Syndromes
# ★Pediatric
Causes Of Stroke
1) arterial & venous thrombosis
2) ICH
3) mbolism
4) 기타
553.1 Arterial Thrombosis
1) thrombosis of internal carotid a.
- result from blunt trauma due to fall on pencil or popsidestick
in the child's month
--> tear in the intima of vv.wall
--> dissecting aneurysm
-sx. 1.delayed up to 24hr.following accident
2.stuttering but progressive flaccid hemiplegia,lethargy aphasia
3.focal motor seizure:common cx.
2) retropharyngeal abscess
- inflammation of intima --> arterial thrombosis
- cbr.angiogram:occlusiion of int.carotid a.
- CT scan:hypodense lesion
3) cyanotic congenital heart disease
- below 2hr-->thrombosis of mid.cbr.a.
4) collagen vascular disease(LE,PAN)
5) basal arterial occlusion without telangiectasia
6) basal arterial occlusion with telangiectasia(Moyamoya Ds)
1.more common in girls
2.severe headache,bilat.UMN signs,chorea
3.Px.for recovery:poor
4.intermittent episodes of transient ischemic attack coupled with neurologic
signs & severe diability
5.Cbr.angio:idiopathic supraclinoid internal carotid arteriopathy
6.surgical procedure:to enhance cbr.blood flow
7) occlusion of distal artery
- DM,neurofibromatosis,sickle cell disease,IV drug abuse
8)thrombosis of small arteries:PAN,homocystinuria
553.2 Venous Thrombosis/Embolism
* hemiplegia원인
1) bact.meningitis
--> thrombosis of superficial cortical & deep penetrating V.
--> hemiplegia
2) otitis media,mastoiditis,cavenous sinus thrombosis
3) severe dehydration during infancy-->thrombosis of sup.sagittal sinus
& superf.cortical vein
4) conditions causing hypercoagulopaathy,cyanotic CHD,leukemic infiltrates
of cbr.veins
* embolization of cbr.vv
: rare in children
* cardiac cause include arrhythmias(atrial fibrillation), myxoma,
bact.endocarditis
--> mycotic aneurysm,paradoxical emboli through PFO
* air embolism(after surgery),fat embolism(after long bone fx.),
septic embolism
553.3 Intracranial Hemorrhage
Arteriovenous Malformation
; failure of normal capillary bed development between arteries & veins during embryogenesis
--> abnormal shunting of blood
--> expansion of vessels,space-occutying effect , rupture of vein & intracerebral bleeding
; location
- cerebral hemispheres
- cerebellum, brain stem, spinal cord
Clinical Manifestation
;
*history of migraine-like
headaches
-
*remain on same side
- typical migraine은 from one side to the other side
; auscultation of skull
- high-pitched bruit(50%)
; rupture of AVM
--> severe headache,vomiting, nuchal rigidity due to SAH, progressive hemiparesis, focal or generalized seizure
AVM of vein of Galen during infancy
1. high-output CHF 20 to shunting of large volumes of blood
2. progessive hydrocephalus
3. increase ICP due to obst.of CSF pathway
Cerebral Aneurysm
# adult와의 차이점
; tend to be large
;
located at *carotid bifurcation
or
*on the ant. & post. cerebral
artery rather than circle of Wills
;
*association with CoA &
bilateral polycystic kidney disease
; others causes
- congenital weakness of vessels
- deficiency of type III collagen
★종류 553.4 Miscellaneous Causes Of
Stroke
Alternating Hemiplegia Of Childhood
Metabolic Diseases
; mitochondrial encephalomyolopathy(e.g. MELAS), ornithine transcarbamylase deficiency, pyruvate dehydrogenase deficiency, homocystinuria
Todd Paralysis
Cerebral Tumor
Encephalitis
Focal Postviral Encephalitis
Lipid Abnormalities
Chapter 554. Brain Abscess
; *▲common between 4 and 8 yr
# ★Predisposing
Conditions
; congenital heart disease with right to left shunts
; meningitis, chronic otitis media, mastoiditis, soft tissue infection of the face or scalp, orbital cellulitis, dental infections
; penetrating head injuries, immunodeficiency states, infection of ventriculo-peritoneal shunts
# site
; *80% divided equally between frontal,parietal,temporal lobes
; 20% occipital lobe, cerebellum, brain stem
# abscess pattern
; mostly single
; 30% multiple(involve more than one lobe)
; frontal lobe abscess
- extension from sinusitis or orbital cellulitis
; temporal lobe abscess or cerebellum
- frequently associated with chronic otitis media & mastoidltis
Etiology
; S. aureus
; streptococci (viridans, pneumococci, microaerophilic)
; anaerobic organisms (gram-positive cocci, Bacteroides spp, Fusobacterium spp, Prevotella spp, Actinomyces spp, and Clostridium spp)
; gram-negative aerobic bacilli (enteric rods, Proteus spp, Pseudomonas aeruginosa, Citrobacter diversus, and Haemophilus spp)
# culture
1 organism : 70%
2 : 20%
3 : 10%
# *mucosal
infections (sinusitis) ; anaerobic bacteria
Clinical Manifestations
; early stages
- nonspecific symptoms
- low-grade fever, headache, lethargy
; inflammatory process proceeds
- vomiting, severe headache, seizures, papilledema, focal neurologic signs (hemiparesis), coma
; cerebellar abscess
- nystagmus, ipsilateral ataxia, dysmetria, vomiting, headache
; ruptures into the ventricular cavity
- overwhelming shock & death
Diagnosis
1) WBC ; normal or elevated
2) blood culture ; positive in only 10%
3) CSF
; variable results
; minimally elevated or normal WBC, protein
; slightly low glucose
; rarely positive cultures
; *seldom useful
/ *cerebellar tonsils herniation 야기
가능하므로 brain abscess suspect 환자는
시행하지 않는다.
4) EEG
; corresponding focal slowing
5) radionucleotide brain scan
; area of enhancement due to disruption of the BBB(greater than 80% of cases)
6) CT
; cerebritis - parenchymal low-density lesion
; abscess cavity - ring-enhancing lesion
7) MRI
; increased signal intensity in T2-weight image
; abscess capsule with gadolinium administration
Treatment
1. initial management
; prompt diagnosis & institution of antibiotic regimen
2. cause - unknown
; combination of nafcillin or vancomycin with a third-generation
cephalosporin and metronidazole
3. penitrating injury,head trauma,sinusitis
; combination of nafcillin or vancomycin,cefotaxime,metronidazole
4. lesion resulting from cyanotic heart disease
; penicillin and metronidazole
5. secondary to infected ventriculo-peritoneal shunt
; vancomycin and ceftazidime
6. otitis media or mastoiditis
; nafcillin or vancomycin in combination with ceftazidime
and metronidazole
7. citrobacter meningitis
; third-generation cephalosporin & aminoglycoside
8. immunocompromised patient
; broad antibiotic coverage and amphotericin B
9. early stages of cerebritis or with multiple abscesses
; antibiotics alone
10. encapsulated abscess
(particularly if the lesion is causing a mass effect or IICP)
; combination of antibiotics and aspiration
11. OP Ix
- gas is present in the abscess
- multiloculated
- located in the posterior fossa
- fungus가 identification 될때
12. associated infectious processes
(mastoiditis, sinusitis,periorbital abscess)
--> surgical drainage
13. duration of antibiotic therapy
; usually requires 3-4 wk
Prognosis
1. mortality ; 5-10%
(with the use of CT or MRI and prompt antibiotic and surgical management)
2. factors associated with high mortality at the time of admission
- multiple abscesses
- coma
- lack of CT facilities
3. long-term sequelae ; at least 50% of survivors
- hemiparesis, seizures, hydrocephalus, cranial nerve abnormalities,
behavior and learning problems
Chapter 555. Brain Tumors In Children
- second most prevalent malignancy in childhood(leukemia > brain tumor)
- the most common solid tumors in childhood
- metastatic brain tumors ; rare in the child
Epidemiology
- infratentorial tm > supratentorial tm
( except 2yr. 이하, adolescent;equivalent)
- 2-12yr intracranial tm의 2/3 ; infratentorial tm
Pathology And Pathogenesls
# 2 major histologic types of brain tumors in children
1) glial cell tumors
2) primitive neuroectodermal cell origin tm
Glial Ceil Tumors
- the most common & variable prognoses
1. astrocytoma
2. ependymoma
3. glioblastoma multiforme
Neuroectodermal Tumors
1. medulloblastoma(cerebellum)
2. pineoblastoma(cerebrum, spinal cord, pineal gland)
(신) * gliomas - deletion of 17p
high-grade glioma - loss of 9p
glioblastoma multiforme - loss of a portion of chromosome l0
meningioma - loss of a portion of chromosome 22
medulloblastoma - loss of a segment of 17p
(not related to the p53 tumor suppressor gene)
(신) * glioma - epidermal growth factor (EGFR)
meningioma - alteration of platelet-derived growth factor receptor
& increased expression of its ligand, platelet derived growth factor
Clinical Manifestations
+- infratentorial tm(post.fossa위치시) - Sx & Sg of IICP & hydrocephalus
+- supratentorial tm - focal abnormalities(long-tract signs & seizures)
Alterations In Personality
1. 1st symptoms of brain tumor
2. lethargic, irritable, hyperactive, forgetful, perform poorly academically
3. tm remove후 ICP control 되면 significant reversal of behavioral problem
IICP
; headache, vomiting, diplopia, papilledema
- bulging fontanel & increasing head size (macrocrania) in infancy
; headache
-
*in the morning, relieved with
standing
-
*dull, generalized, steady
- maybe intermittent & worsening by coughing, sneezing, defecation
- associated with vomiting : relieves headache
; associated forth ventricle tumor
; nystagmus,vital sign change(bradicardia,irregular pulse, systemic hypertension, alteration in resp.pattern)
Focal Neurologic Sign
; hemiparesis,complex partial seizure(temporal lobe tm)
obscuration of vision(blurring) - indicate marked vasoconstriction of
abr.vv. & impending cbll herniation
(신)visual loss -> optic tract glioma or inpingement of pituitary
or suprasellar masses on optic chiasm
Ataxia
- post. fossa tm.
- cbll vermis tm. - truncal ataxia
- cbll hemisphere tm. - ipsilat. extrem. ataxia & dysdiadochokinesia
Infratentorial Tumors
Cerebellar Astrocytoma
;
*▲common post. fossa tumor of childhood
;
*best prognosis
; location
- midline involving the vermis
- confined to a hemisphere(cerebellar peduncles invasion 가능)
; Clinical Manifestation
- hydrocephalus
- symptoms & sign of IICP
; histology
- protoplasmic & fibrillary astrocytes arranged in a radial fashion interspersed with Rosenthal fibers
; Tx & Px
- surgical resection(5yr survival > 90%)
- RTx / high-grade astrocytomas or postop tumor progression이 있는 경우
Medulloblastoma
;
*2nd ▲common post fossa tumor
- *▲prevalent brain tumor
under 7yr
;
*spread over the cerebral
convexities or along the CSF pathyways & extracranial metastasis
; location
- roof of 4th ventricle & grows rapidly to fill 4th ventricle or invade the adjacent cerebellar hemisphere
; histology
- vascular & cellular
- ※92
deeply staining nuclei with scant cytoplasm arranged in pseudorosettes
; Diagnosis
- MRI
- CT myelography
; Tx & Px
- surgical extirpation & irradiation
(small tumors & no evidence of dissemmation시 5YSR ; 70%)
- postop residual tm or evidence of neuraxis dissemination
-> CTx 병용(survival 60%)
; vincristine, cyclophosphamide, cisplatinum, etoposide
- less than 2 yr -- poor prognosis
Brain Stem Glioma
; 3rd most frequent post fossa tumor in children
; 2 types
- anaplastic astrocytoma
/ diffuse infiltration in the pons extending throughout the brain stem
- low-grade focal tumor in midbrain & medulla
/ excellent survival rates
; Clinical Manifestation
- cranial nerve sx
abducens and facial nerve involve -> diplopia, facial weakness
cranial nuclei in the medulla -> dysarthria, dysphagia, dysphonia
- pyramidal tract sx
: gait disturbances,generalized upper motor neuron signs
- changes in personality : common
- lethargy, irritability, aggressive behavior
- IICP sx(late in course) - papilledema<