Late-onset nephrotic syndrome and severe cerebellar atrophy in Galloway-Mowat syndrome

• Published in: Neuropediatrics Vol. 36; no. 5; p. 332
• Main Authors: Steiss, J O, Gross, S, Neubauer, B A, Hahn, A
• Format: Journal Article
• Language: English
• Published: Germany 01.10.2005
• Subjects: 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
• DOI: 10.1055/s-2005-872842
• ISSN: 0174-304X

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.