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: J O Steiss, S Gross, B A Neubauer, A Hahn
• Journal: Neuropediatrics (Neuropediatrics) Vol. 36 Issue 5 Pg. 332-5 (Oct 2005) ISSN: 0174-304X [Print] Germany
• PMID: 16217710 (Publication Type: Comparative Study, Journal Article)

Topics

• Adolescent
• Age of Onset
• Cerebellar Diseases (physiopathology)
• Child
• Child, Preschool
• Female
• Humans
• Infant
• Kidney Diseases (physiopathology)
• Magnetic Resonance Imaging (methods)
• Male
• Microcephaly (physiopathology)
• Nephrotic Syndrome (physiopathology)