title: Pontocerebellar hypoplasia type 3 with tetralogy of Fallot.
abstract: 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.
authors: Department of Neonatology, Seirei Hamamatsu General Hospital, Hamamatsu, Shizuoka, Japan. jin121@sis.seirei.or.jp
authors: Hideo
authors: H
authors: Jinnou
authors: Tohru
authors: T
authors: Okanishi
authors: Hideo
authors: H
authors: Enoki
authors: Shigeru
authors: S
authors: Ohki
mesh_terms: D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000150:complications* / Q000473:pathology; D009849:Olivopontocerebellar Atrophies / Q000150:complications* / Q000473:pathology; D009896:Optic Atrophy / Q000150:complications* / Q000473:pathology; D011149:Pons / Q000002:abnormalities* / Q000473:pathology; D013771:Tetralogy of Fallot / Q000150:complications* / Q000473:pathology