Journal
SEMINARS IN PEDIATRIC NEUROLOGY
Volume 15, Issue 4, Pages 151-153Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.spen.2008.09.001
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- NCRR NIH HHS [UL1 RR025755] Funding Source: Medline
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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. Semin Pediatr Neurol 15:151-153 (C) 2008 Elsevier Inc. All rights reserved.
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