title: Late-onset nephrotic syndrome and severe cerebellar atrophy in Galloway-Mowat syndrome.
abstract: Galloway-Mowat syndrome (GMS) is a rare autosomal-recessive disorder characterised by nephrotic syndrome, microcephaly, and variable brain anomalies. The prognosis is poor with death almost inevitably supervening before the age of 6 years, but atypical cases with later onset of proteinuria and a more protracted course are on record. We report a female offspring from consanguineous parents suffering from microcephaly, profound psychomotor retardation, epilepsy, hiatal hernia, and striking cerebellar atrophy in whom a nephrotic syndrome became apparent at age 16 years. Renal biopsy revealed focal segmental glomerulosclerosis and glomerular basement membrane abnormalities. We postulate that this patient had a milder form of GMS with severe and diffuse cerebellar atrophy as the leading central nervous system abnormality.
authors.affiliation: Department of Pediatrics, University of Giessen, Germany. Jens-Oliver.Steiss@paediat.med.uni-giessen.de
authors.forename: J O
authors.initials: JO
authors.lastname: Steiss
authors.forename: S
authors.initials: S
authors.lastname: Gross
authors.forename: B A
authors.initials: BA
authors.lastname: Neubauer
authors.forename: A
authors.initials: A
authors.lastname: Hahn
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D002526:Cerebellar Diseases / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007674:Kidney Diseases / Q000503:physiopathology*; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008831:Microcephaly / Q000503:physiopathology*; D009404:Nephrotic Syndrome / Q000503:physiopathology*