title: 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: Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
authors: Jeffrey J
authors: JJ
authors: Ekstrand
authors: Aaron L
authors: AL
authors: Friedman
authors: Carl E
authors: CE
authors: Stafstrom
mesh_terms: D002675:Child, Preschool; D017809:Fatal Outcome; D005260:Female; D006551:Hernia, Hiatal / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000175:diagnosis* / Q000235:genetics*; D009401:Nephrosis / Q000175:diagnosis* / Q000235:genetics*; D009422:Nervous System Diseases / Q000175:diagnosis / Q000235:genetics; D035781:Siblings