Additional findings in Galloway-Mowat syndrome

The Galloway-Mowat syndrome consists of early onset nephrotic syndrome and central nervous system anomalies. Additional anomalies including hiatal her nias have been reported but are not consistently present. Various renal his topathologic changes have been reported and it is unclear whether these rep resent heterogeneity within the syndrome or different stages of disease pro gression. We describe a patient with Galloway-Mowat syndrome who had a rena l biopsy at 9 months that showed minimal changes. She died at 42 months at which time the renal autopsy finding was diffuse mesangial sclerosis. Neuro pathologic findings included a small brain with cerebral dysplasia, leukoma lacia and absence of the cerebellar granular layer without leptomeningeal h eterotopia. The autopsy also revealed bilateral ovarian agenesis. This is t he first report of serial histopathologic changes and ovarian agenesis in G alloway-Mowat syndrome.