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

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 mor...

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Bibliographic Details
Published inNeuropediatrics Vol. 36; no. 5; p. 332
Main Authors Steiss, J O, Gross, S, Neubauer, B A, Hahn, A
Format Journal Article
LanguageEnglish
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
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Summary: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.
ISSN:0174-304X
DOI:10.1055/s-2005-872842