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Warburg syndrome-病例報告
Warburg Syndrome-Case Report
摘要
Warburg syndrome為眼部及中樞神經系統的失天畸型發育，是罕見的致命性病症，于1971年Warburg首先提出報告、于1975年Chemkeetal發表最早的家族性病例並推論為隱性遺傳。本文提出一Warburg syndrome”的病例報告、患者為男性新生兒、其臨床表徵有：1.眼部異常：雙眼小眼症、右眼角膜發育不金、左眼殘遺增生性原始玻璃體。2.腦部異常：無腦回、水腦症、小腦發育不良以及Dandy-Walker cyst。3.不明確的外陰部及隱睾症。
關鍵字
無資料並列摘要
Warburg syndrome is a rare and lethal disorder with eye and central nervous system anomalies. It was, reported by Warburg n 1971 and the first familial occurrence and presumption of autosomal recessive inheritance was presented by Chemke et al. in 1975. Now we present a case of Warburg syndrome, a male newborn with the clinical manifestations as the following: 1. Ocular anomalies included microphthalmos (OU), cornea hypoplasis (OD) and persistent hyperplastic primary vitrous (OS). 2. Brain anomalies included agyria, hydrocephalus, cerebellar hypoplasia and Dandy-Walker cyst. 3. Ambiginous genitalis and cryptorchidism.