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: Hideo Jinnou, Tohru Okanishi, Hideo Enoki, Shigeru Ohki
• Journal: Brain & development (Brain Dev) Vol. 34 Issue 5 Pg. 392-5 (May 2012) ISSN: 1872-7131 [Electronic] Netherlands
• PMID: 21880448 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Topics

• Cerebellum (abnormalities, pathology)
• Humans
• Infant
• Infant, Newborn
• Magnetic Resonance Imaging
• Male
• Microcephaly (complications, pathology)
• Olivopontocerebellar Atrophies (complications, pathology)
• Optic Atrophy (complications, pathology)
• Pons (abnormalities, pathology)
• Tetralogy of Fallot (complications, pathology)