Affiliation: | aPol Bouin Laboratory, University of Reims, CHU-Reims, Reims, France bDepartment of Pathology, CHU Sainte-Justine, 3175, Côte Sainte-Catherine Montréal, University of Montreal, Que., Canada H3T 1C5 cDepartment of Pediatric, American Hospital, CHU-Reims, Reims, France dDepartment of Pathology, Necker Hospital, Paris, France eDepartment of Cytogenetic, University of Reims, CHU-Reims, Reims, France |
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. |