Galloway-Mowat syndrome: neurologic features in two sibling pairs.

Abstract

Galloway-Mowat syndrome is an autosomal recessive disorder presenting as early-onset nephrotic syndrome and central nervous system abnormalities, including microcephaly and developmental delays. Neurologic findings are universal in children with this disorder, and often precede renal abnormalities. However, relatively few descriptions of associated neurologic features are available. We describe two pairs of siblings with Galloway-Mowat syndrome who illustrate the spectrum of neurologic findings, to increase awareness of this syndrome among pediatric neurologists.

• Authors: Jeffrey J Ekstrand, Aaron L Friedman, Carl E Stafstrom
• Journal: Pediatric neurology (Pediatr Neurol) Vol. 47 Issue 2 Pg. 129-32 (Aug 2012) ISSN: 1873-5150 [Electronic] United States
• PMID: 22759691 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2012 Elsevier Inc. All rights reserved.

Topics

• Child, Preschool
• Fatal Outcome
• Female
• Hernia, Hiatal (diagnosis, genetics)
• Humans
• Infant
• Male
• Microcephaly (diagnosis, genetics)
• Nephrosis (diagnosis, genetics)
• Nervous System Diseases (diagnosis, genetics)
• Siblings