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.
journal_name
Neuropediatricsjournal_title
Neuropediatricsauthors
Steiss JO,Gross S,Neubauer BA,Hahn Adoi
10.1055/s-2005-872842subject
Has Abstractpub_date
2005-10-01 00:00:00pages
332-5issue
5eissn
0174-304Xissn
1439-1899journal_volume
36pub_type
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