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兒科部醫智庫

5-1. 小兒神經系統導論

小兒神經科 張鈺孜醫師

臨床比例:100%
國考比例:30%
學習目標
閱讀完本單元後,同學們可以了解神經系統疾病、
常見的神經系統發育和結構上的問題,診斷和處置

學習大綱

1. Neural tube defect


2. Neural migration disorders
3. Craniosynostosis
1. Neural Tube defects

臨床比例:100%
國考比例:30%
Neural Tube defects
 Failure of the neural tube to close
spontaneous between 3rd and 4th
wks
 Possible risk factors:
• Hyperthermia
• drugs (valproic acid)
• malnutrition
• Chemicals
• maternal obesity or diabetes
• genetic determinants (mutations in folate-
responsive or folate-dependent enzyme
pathways)
 Prenatal screening of maternal
serum for AFP in the GA 16th-18th
wk
• an effective method for identifying pregnancies
at risk for fetuses with NTDs in utero
Neural Tube defects including
 spina bifida occulta
 meningocele
 myelomeningocele
 encephalocele
 anencephaly
 caudal regression syndrome
 dermal sinus
 tethered cord
 syringomyelia, diastematomyelia, and lipoma
involving the conus medullaris and/or filum terminale
and the rare condition iniencephaly.
Hint
Examine Before surgical correction of
the defect

 plain x-rays, ultrasonography, and MRI


 Genitourinary evaluation
 cystometrogram (CMG)
 If CSF leakage or a thin skin covering should
undergo immediate surgery to prevent
meningitis
 A CT scan or MRI of the head is recommended
 the association with hydrocephalus in some
cases
2. Disorders of Neuronal
Migration
Disorders of Neuronal Migration

 Lissencephaly 平腦
 Schizencephaly 腦裂
 Neuronal heterotopias
 Polymicrogyrias
 Focal cortical dysplasia
 may related drug –resistant epilepsy
 Porencephaly
Lissencephaly 平腦症 Schizencephaly 裂腦畸型
Q &A

左側影像圖有可能是下
列何者?
1. Schizencephaly
2. Lissencephaly
3. Holoprosencephaly
4. Chiari malformation
Agenesis of the Corpus Callosum (ACC)

 vary in expression from severe intellectual and


neurologic abnormalities to the asymptomatic
and normally intelligent
 Presentation
 Symptomatic: learning delay; seizures, etc.
 ACC + other brain anomalies

 ACC is only brain defect

− Coincidental: prenatal echo; MRI

 Sporadic occurrence (95%)


 May associated with trisomy 8 and trisomy 18
 When combine with other anomalies chromosome
study
Chiari malformation

 most common malformation of


the posterior fossa and
hindbrain
 herniation of the cerebellar
tonsils though the foramen
magnum
 S/S: headache, IICP, diplopia,
oropharyngeal dysfunction,
tinnitus, and vertigo
 Obstructive hydrocephalus
and/or syringomyelia can also
occur.
Chiari malformation typing
 Type I.
 the most commonly observed type in children. In this type, the

lower part of the cerebellum -- but not the brain stem -- extends
into an opening at the base of the skull.
 S/S: Headache, neck pain, unsteady gait usually during

childhood
 Type II.
 Usually accompanied by a lumbar myelomemingocele or

lumbosacral spine with tonsillar herniation below the foremen


magnum.
 known as "classic" Chiari malformation or Arnold-Chiari

malformation.
 In type II Chiari malformation, both the cerebellum and the brain

stem extend into the foramen magnum.


 s/s: Paralysis below the spinal defect
Chiari malformation typing

 Type III.
 This is the most serious form.
 associated with an occipital encephalocele containing

a variety of abnormal neuroectodermal tissues


 Type IV.
 This involves an incomplete or undeveloped
cerebellum.
 sometimes is associated with exposed parts of the

skull and spinal cord. Type IV is a rare type.


Dandy-Walker malformation
 cystic dilatation of the fourth ventricle
 hypoplasia of the cerebellar vermis
 hydrocephalus
 an enlarged posterior fossa with elevation of the
lateral venous sinuses and the tentorium
Microcephaly: HG <3 SD

Nelson 18th edi. p2007


Microcephaly

Nelson 18th edi. P2007 table585-2


Hydrocephalus
3. Craniosynostosis
Craniosynostosis

 premature closure of
the cranial sutures
 primary or secondary
 incidence of primary
craniosynostosis
approximates 1/2,000
births
 genetic syndromes
account for 10-20%
Plagiocephaly

Synostotic Deformational

Anterior Posterior Anterior Posterior


(Unilateral (Unilateral (Patent (Patent
Coronal) Lambdoid) Sutures) Sutures)
Sagittal Synostosis

“Boat-Head”
(Scaphocephaly)

Most common CSO affecting a single


suture, 80% male
Coronal Synostosis

 18% of CSO
 more common in girls
 Associated with Apert
“Bent-Head” syndrome (with
(Plagiocepahly) syndactly)
and Crouzon
disease
Metopic Synostosis

“Triangle-Head”
(Trigonocephaly)
Metopic Synostosis
Lamboid Synostosis

“Slant-Head”
(Occipital Plagiocephaly)
Syndromic Craniosynostosis

 10-20 % of cases
 Multi-sutural, complex cases

If a suture is fused,
check hands, feet, big toe and thumb
Distinguishing Clinical Features in the
Craniosynostosis Syndromes

Bear-
Jackson-
Muenke Crouzon Apert Pfeiffer Stevens
Weiss
on
Thumb Normal Normal Fused to Broad, Normal
s fingers deviated

Hands ± Carpal Normal Variable Bone Variable Normal


fusion syndactyly brachyd
actyly
Great ± Broad Normal Broad, Fused to Broad, Normal
Toes deviated toes deviated

Feet ± Tarsal Normal Abnormal Bone Variable Normal


fusion tarsals syndactyly brachyd
actyly
Crouzon syndrome

• Normal intellect
• Normal extremities
• 5 % have acanthosis nigricans
• 30 % have progressive hydrocephalus
Apert syndrome
“Crouzon’s with Hand Involvement”

• Varying intellect (50 % with MR)


• Mitten Glove Syndactyly
• Cervical vertebral anomalies
• Rare hydrocephalus
Apert Extremity Findings
Diagnosis

 physical examination
 The diagnosis of craniosynostosis is typically
made on the basis of some type of radiologic
examination.
 Complex cases: CT or 3D CT
 X-Ray: Fused sutures have a broad ridge of
overgrowth of solid bone along a previous
suture, or suture is completely obliterated
 Ridge is especially characteristic of fused
sagittal suture
SURGICAL INDICATIONS

 Surgical correction for craniosynostosis is


recommended for two reasons:
(1) to correct the abnormal appearance caused
by the altered pat- terns of growth
(2) to treat negative effects on development,
which could result from a regional
impairment of cerebral blood flow, arising from
increased intracranial pressure, caused by
localized inhibitions in skull growth.
 開刀的時機和手術的方式也有關, 一般一歲以前開刀
矯正
兒科部醫智庫

5-2. 癲癇 Seizures
小兒神經科 張鈺孜醫師

臨床比例:100%
國考比例:40%
學習目標
 暸解癲癇的成因
 診斷
 分型
 治療
 相關衛教資訊
學習大綱

1. 癲癇定義
2. 癲癇診斷方式
3. 癲癇發作類型
3-1. 泛發性強直陣攣發作
3-2. 失神性發作
3-3. 單純局部癲癇
3-4. 複雜型部分癲癇
3-5. Febrile seizures
3-6. Neonatal seizures
1. 癲癇定義
Seizures

 a transient occurrence of signs and/or symptoms


resulting from abnormal excessive or
synchronous neuronal activity in the brain
 epilepsy : when ≥2 unprovoked seizures occur in
a time frame of >24 hr.
2. 癲癇診斷方式
癲癇的診斷靠什麼?

 旁觀者的描述是最重要的參考,若無法詳述,
則可以模仿其發作的動作或行為,若有攝影機
拍到發作的情況更好。
 腦電波與腦部影像掃描非絕對必要。
 若未能篤定的確認其發作為癲癇之發作,則繼
續追蹤觀察,不能以腦波出現異常,便認定是
癲癇。
診斷癲癇之流程圖
疑似癲癇發作

癲癇發作 排除非癲癇者(暈厥、憋氣發作)

特定原因

有 無

熱性痙攣 僅此一次 超過一次

症狀性發作
單一發作 癲癇症
(血糖過低、電解質不平衡)
 血液檢查 ☐腦波 ☐代謝篩檢

 電腦斷層 ☐磁振照影
評估再發性

 再發性視抽筋型態與年紀而改變
(平均10~50%)

 再發性在大發作低,而小發作,或點頭痙攣高

 再發性在腦波不正常的高,而正常的低
Risk of Recurrent Seizures

 The risk of a second unprovoked seizure: 33%


 The risk of a third unprovoked seizure: 73 %
 The risk of a fourth unprovoked seizure: 76%
 Most recurrences occur within one year
3. 癲癇發作類型
常見的癲癇的發作型態有哪些?

 全面性
 大發作
 小發作

 肌抽躍性發作

 失張力性發作

 嬰兒點頭痙攣

 部分性
 單純型發作
 複雜型發作
泛發性強直陣攣發作(全身性大發作)

 發作時,病童陷入意識喪失,眼珠上吊,牙齒緊
咬,嘴溢白沫,像電視上演的那樣
 四肢起初用力伸直,接下來手,腳,脖子用力抽

 而有時候因身體肌肉過度用力,空氣被擠出胸部
而發出似動物嚎叫的聲音,所以又被俗稱“羊癲
瘋”或“豬母癲”(台語)。
症狀

 前驅症狀:發作前數天或數小時有頭痛、倦怠、煩
燥不安、反應遲鈍等現象
 預兆:發作前之瞬間,主觀的感受
 發作現象:
 強直期抽搐:全身肌肉持續性僵直抽搐,牙關緊閉

 陣攣期抽搐:全身肌肉規律性,微細的抽動

 弛緩期:抽搐停止,呼吸大而出鼾聲,意識仍昏睡中

 恢復期:意識漸恢復,肢體運動漸出現,有時會自動性的
動作,或進入熟睡期
失神性發作 (小發作)

 通常在數秒或三十秒後,臨床表現為兩眼無神,動作突
然僵住,人無意識,但不會倒下去,彷彿錄影帶被按了
‘暫停’鈕一般。
 發作會結束。原來暫停的行為又可接續下去。有時發作
中會合併眨眼、咀嚼的動作。
 會被誤以為作白日夢或注意力缺陷
Absence Seizure(舊稱Petit Mal)

 年齡: 4歲至12歲
 症狀:
 瞬間的意識障礙, 外表上呈現失神狀態,無前兆,伴有霎眼,
眼瞼跳動,面頰肌肉之抽動,腦電圖呈現每秒三次之棘徐
波叢
 發作頻率很高,一天可達數百次

 深呼吸考誘發其發作

 原因: 部份遺傳
 預後: 部份演成大發作
EEG of Childhood absence seizure
單純局部癲癇

 局部發作時患者的意識清楚,和外界的互動良好。
而症狀可以是一手或是一腳抽動,或部分的身體
有奇怪的感覺等。
複雜型部分癲癇

 年齡: 小孩及青春期
 臨床症狀:
 可有預兆,發作時出現自動性動作(automatism),如咀嚼動
作,內臟動作,行為動作等,兼有意識、記憶、情感、五官及
自律神經等異常或障礙,發作後出現精神混亂或嗜睡現象。
 時間: 約1至2分鐘
 腦波: 前顳及額葉有癲癇焦點(睡眠時更易出現)
 預後: 視病因及治療效果而定
癲癇的治療方式有哪些?

圖片來源:中山附設醫院
Febrile Seizures
 a seizure that occurs “in infancy or childhood,
usually occurring between 3 months and 5 years高峰
期約一歲半左右。
 因為發燒而引起的抽搐,通常發作都在發燒的廿四
小時以內 。
 一般小孩廿到卅個之中就有一位會有這樣的經驗
(在台灣六歲以下的兒童其發生率約為3~4%) 。
 家族性遺傳傾向很大。
 The most common convulsive events in human
experience
The role of EEG in febrile seizures

 If the child is presenting with his or her first


simple febrile seizure and is otherwise
neurologically healthy, an EEG need not
normally be performed as part of the evaluation.
 An EEG would not predict the future recurrence
of febrile seizures or epilepsy even if the result is
abnormal.
 Only when epilepsy is highly suspected EEG
arranged after >2 wk have passed.
Neonatal seizures
Neonatal
seizures
有關SEIZURES可參考下列網址
影片,可以加深印象

http://neurology.stanford.edu/epilepsy/patientcare/videos/e_13.html
兒科部醫智庫

5-3. Viral Meningoencephalitis


小兒神經科 張鈺孜醫師
Acute Bacterial Meningitis Beyond
the Neonatal Period
 The most common cause of bacterial meningitis
in children 1 mo to 12 yr of age in the USA is
Neisseria meningitidis.
 streptococcus pneumoniae and Haemophi- lus
influenzae type b has become much less
common in developed countries since the
introduction of universal immunization against
these pathogens beginning at 2 mo of age.
 Bacterial meningitis most commonly results from
hematogenous dissemination of microorganisms
from a distant site of infection
 S/S: may nonspecific such as fever, anorexia
and poor feeding, headache
 Meningeal sign
 Kernig sign (flexion of the hip 90 degrees with
subsequent pain with extension of the leg)
 Brudzinski sign (involuntary flexion of the knees and

hips after passive flexion of the neck while supine)


 In some children, particularly in those younger than

12-18 mo, Kernig and Brudzinski signs are not


consistently present.
Diagnosis

 confirmed by analy- sis of the CSF, which


typically reveals microorganisms on Gram stain
and culture, a neutrophilic pleocytosis, elevated
protein, and reduced glucose concentrations
 LP should be performed when bacterial
meningitis is suspected.
LP contraindication

1. evidence of increased ICP (other than a bulging


fontanel), such as 3rd or 6th cranial nerve palsy
with a depressed level of consciousness, or
hypertension and bradycardia with respiratory
abnormalities
2. severe cardiopulmonary compromise requiring
prompt resuscitative measures for shock or in
patients in whom positioning for the LP would
further compromise cardiopulmonary function
3. infection of the skin overlying the site of the LP.
Thrombocytopenia is a relative contraindication for
LP
Treatment

 The therapeutic approach to patients with


presumed bacterial meningitis depends on the
nature of the initial manifestations of the illness.
 Antibiotics according to the pathogen
Viral Meningoencephalitis

 an acute inflammatory process involving the


meninges and, to a variable degree, brain
tissue.
 Mostly self-limited
 Enteroviruses are the most common cause
S/S

 Headache, hyperesthesia, irritability and


lethargy.
 complain of retrobulbar pain. Fever, nausea and
vomiting, photophobia, and pain in the neck,
back, and legs are common.
 As body temperature increases, there may be
mental dullness, progressing to stupor in
combination with bizarre movements and
convulsions.
Diagnosis

 examination of the CSF, which usually shows a


mild mononuclear predominance
 Viral culture, virus PCR
Treatment

 Support care except acyclovir for HSV


encephalitis
即時性考題1
問題:

(A)
(B)
(C)
(D)

Answer:
即時性考題2
問題:

(A)
(B)
(C)
(D)

Answer: