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

摘要

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.