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  • Title: Collapsing glomerulopathy in Galloway-Mowat syndrome: a case report and review of the literature.
    Author: Sartelet H, Pietrement C, Noel LH, Sabouraud P, Birembaut P, Oligny LL, Roussel B, Doco-Fenzy M.
    Journal: Pathol Res Pract; 2008; 204(6):401-6. PubMed ID: 18276083.
    Abstract:
    The Galloway-Mowat syndrome (GMS) (MIM251300) is described as an autosomal recessive disorder, the gene of which has not yet been identified. We report the case of a boy presenting with an early nephrotic syndrome, microcephaly, seizures, and psychomotor retardation. He died at 3 years and 11 months in a context of end-stage renal function consistent with a GMS. He was the second child of a non-consanguineous marriage. There was no family history of nephrotic syndrome or end-stage renal failure, but his mother had a moderate mental retardation complicated by seizures. He presented dysmorphologic features, including micrognathia and large and floppy ears. Renal biopsy showed a focal segmental glomerulosclerosis with a collapsing glomerulopathy and abundant visceral epithelial cell proliferation. The majority of the glomeruli were sclerotic. We report the first case of GMS associated with a collapsing glomerulopathy.
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