- 期刊
Schizencephaly: Correlation between Clinical and Neuroimaging Features
裂腦症：臨床與神經影像特徵之相關性
摘要
裂腦症是一種罕見的先天性大腦發育異常，常合併有其他腦部畸形，其臨床症狀及預後與其裂腦程度有關。我們收集台大醫院1991年至2001年間13位裂腦症患者；包含10男3女，診斷裂腦症年齡從1天大至48歲，並追蹤4個月至10年，我們分析病人之臨床症狀、腦電圖、預後和神經影像間之相關性。在這13位裂腦症病人中，8位爲單側，5位是雙側裂腦症，11位是屬於開放型(open-lip)。只有一位病人證實有CMA感染。9位病人有過痙攣，然而痙攣的嚴重程度並不完全與裂腦程度相關。此外，痙攣的發生與否和裂腦這種類無關。神經學預後除了與裂腦程度有關外，也與痙攣的控制有關。雙側裂腦症合併頑固型癲癇預後最差。11位病人合併有其他中樞神經系統畸形，其中6位是局部平腦症。我們的結論是裂腦病患通常有不同程度的神經學缺損，早期以影像檢查診斷裂腦症及其合併之其他腦部畸形，可以幫助我們預測其神經學預後。
並列摘要
Schizencephaly is an uncommon congenital brain malformation. We report our experience of 13 patients with schizencephaly and evaluate the clinical, neuroradiologic, electroencephalographic (EEG), and nosological features. Of these 13 patients, 8 were unilateral forms, 5 were bilateral forms and 11 were open-lip type schizencephaly. One patient was proven to have cytomegalovirus (CMV) infection. The clinical features and neurodevelopmental outcomes are variable. Although seizure developed in 9 patients (5 patients from unilateral and 4 from bilateral forms), the severity of epilepsy was not totally related to the degree of malformations. The neurodevelopmental outcome depended on the extent of schizencephaly as well as the seizure control. Those with bilateral forms and intractable seizures had the worst outcome. Other central nervous system (CNS) anomalies were observed in 11 patients. Six out of 11 patients had focal cortical dysplasia. We conclude that children with schizencephaly usually have variable neurological impairment. Earlier diagnosis of schizencephaly and related CNS malformation with neuroimaging is helpful in predicting the neurodevelopmental outcomes in these patients.