Hypotonia, Weakness, and Pontocerebellar Hypoplasia in Siblings

Tsao, Chang-Yong; Mendell, Jerry; Sahenk, Zarife; Rusin, Jerome; Boue, Daniel

doi:10.1016/j.spen.2008.09.001

« Previous Next »Seminars in Pediatric Neurology
Volume 15, Issue 4 , Pages 151-153, December 2008

Hypotonia, Weakness, and Pontocerebellar Hypoplasia in Siblings

Chang-Yong Tsao, MD
- Department of Pediatrics and Neurology, The Ohio State University, Nationwide Children's Hospital, Columbus, OH
- Address reprint requests to Chang-Yong Tsao, MD, The Department of Pediatrics and Neurology, The Ohio State University, Nationwide Children's Hospital, 700 Childrens Drive, Columbus, OH 43205
Jerry Mendell, MD
- Department of Pediatrics and Neurology, The Ohio State University, Nationwide Children's Hospital, Columbus, OH
Zarife Sahenk, MD, PhD
- Department of Pediatrics and Neurology, The Ohio State University, Nationwide Children's Hospital, Columbus, OH
Jerome Rusin, MD
- Department of Radiology, The Ohio State University, Nationwide Children's Hospital, Columbus, OH
Daniel Boue, MD, PhD
- Department of Pathology, The Ohio State University, Nationwide Children's Hospital, Columbus, OH

A 6-week-old girl presenting with severe weakness, hypotonia, gastroesophageal reflux, and microcephaly as well as dysmorphic features including micrognathia and high arched palate was also found to have pontocerebellar hypoplasia. She died of acute pneumonia at age 6 months. Her younger brother also had generalized hypotonia, weakness, areflexia, and tongue fasciculations and was also noted to have pontocerebellar hypoplasia revealed by brain magnetic resonance imaging. We herein briefly review familial spinal muscular atrophy with type 1 pontocerebellar hypoplasia in children.