Pontocerebellar hypoplasia type 3 with tetralogy of Fallot

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• 作者：Hideo Jinnou^a ; ^{jin121@sis.seirei.or.jp} ; Tohru Okanishi^b ; Hideo Enoki^b ; Shigeru Ohki^a
• 关键词：Optic atrophy ; Pontocerebellar hypoplasia ; Tetralogy of Fallot
• 刊名：Brain and Development
• 出版年：2012
• 期刊代码：40_03877604
• 类别：med
• 出版时间：May, 2012
• 卷：34
• 期：5
• 页码：392-395
• 文件大小：248 K

摘要

We report a male infant with pontocerebellar hypoplasia type 3 and tetralogy of Fallot. He showed optic nerve atrophy, progressive microcephaly, severe psychomotor developmental delay, and vesicoureteral reflux. Magnetic resonance imaging revealed severe hypoplasia of the cerebellar vermis and hemisphere, and of the brainstem including the pons, and simplified gyral patterns in bilateral frontal lobes. An unknown etiology differing from other cases of PCH type 3 might have caused not only optic nerve atrophy and hypoplasia of the cerebellum and brainstem, but also cerebral and visceral malformations. To the best of our knowledge, this represents the first report of pontocerebellar hypoplasia with congenital cardiac malformation.