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Hemimegalencephaly-A Case Report
半腦巨大畸形－一病例報告
摘要
半腦巨大畸形（hemimegalencephaly）是罕具的腦部發育異常，其特徵為大腦兩側不對稱及皮質發育不良。本文報告1位18個月大男嬰，在1歲時出現癲癇發作，後來經抗癲癇藥物控制；當時，腦電波顯示右腦出現持續性低電位；頭部電腦斷層顯示左側大腦半球肥厚及腦室擴張，腦迴異常；診斷為左側巨腦畸形。目前，此病患仍在門診追蹤檢查。半腦巨大畸形其預後因人而異，部份病例在新生兒時期死亡，而部份病例可能具有智力受到輕微影響。有人提出癲癇發作出現在年齡1個月以前，則其預後不好，當然其嚴重度與病灶之範圍也有密切關係。電腦斷層被認為是非侵襲性而且重要的診斷工具；同時，核磁共振（magnetic resonance）並可正確地評估其預後之程度與病灶之範圍。直到目前為止，半腦巨大畸形的診斷，最後必須靠解剖來證實。唯有早期診斷，才能提供病人適當的處理與遺傳諮詢。
關鍵字
半腦巨大畸形並列摘要
Hemimegalencephaly is a rare brain malformation characterized by cerebral asymmetry and cortical dysplasia. The patient, an 18-month-old boy, was the product of an uncomplicated full term pregnancy and uneventful delivery to healthy parents. There were neither external malformation nor particular dysmorphic features. At the age of one year, brief seizures were seen and controlled by anti-epileptic drugs. At that time, the EEG showed persistent low amplitude form in the right hemisphere area. CT scans of the brain revealed hypertrophy of the left hemisphere with dilatation of the lateral ventricle on the same side. A diagnosis of hemimegalencephaly was made by CT scan of the brain. However, the prognosis may be different from one patient to another: In some patients this disorder is lethal in the newborn period, whereas other patients survive with greater or lesser intellectual deficiency. The occurrence of seizures before 1 month of age carries a poor prognosis, but the severity also seems related to the extent of the lesion. Brain CT scans is recognized as an important, noninvasive, and possibly specific test. The extent of the lesion seen on MR imaging examination seems to correlate with the severity of the prognosis. Until now, the diangosis was usually made only at autopsy. Thus, early diagnosis in life is possible for adequate management of patients and genetic counseling.
延伸閱讀
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