- 期刊
Cerebral Gigantism: Report of One Case
腦性巨大畸形：一病例報告
摘要
腦性巨大畸形，又名索特斯症條羣(Sotos syndrome)，在出生時的表現有特殊的顱面畸形，體重過重，身長過長，頭圍過大和高骨頭成熟度。最常見的顱面畸形包括額頭隆突，高弓腭，兩眼過距，長頭症，尖下巴和過早發牙，其他較通常的發現還有發展障礙，大手大腳，高骨齡，細微運動調節之缺乏及新生兒適應或餵食困難，本症之診斷主要靠臨床診斷，但由於過去在台灣鮮爲人所提及，故易與水腦症混淆。本文描述一例，希望藉此抛磚引玉，而能對比並非很罕見的症候羣有較深的認識。
關鍵字
無資料並列摘要
One case with the chief complaint of large head was diagnosed as cerebral gigantism (Sotos syndrome) according to the clinical picture and brdin computerized tomography. This case, a one-year-old female infant, experienced rapid growth. Her height and head girth were excessive. Some degree of psychomotor retardation was present. Physical features included macrocrania, dolichocephaly, frontal bossing, hypertelorism, high-arched palate, large hands and feet. Cerebral ventricles were mildly dilated on brain computerized tomography. The diagnosis lied mainly on clinical characteristics. Diseases need to be differentiated from Sotos syndrome include fragile X syndrome, arrested hydrocephalus, Canavan disease and Alexander's disease.
延伸閱讀
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