title: Collapsing glomerulopathy in Galloway-Mowat syndrome: a case report and review of the literature.
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.
authors.affiliation: Pol Bouin Laboratory, University of Reims, CHU-Reims, Reims, France. herve.sartelet.hsj@ssss.gouv.qc.ca
authors.forename: Hervé
authors.initials: H
authors.lastname: Sartelet
authors.forename: Christine
authors.initials: C
authors.lastname: Pietrement
authors.forename: Laure-Hélène
authors.initials: LH
authors.lastname: Noel
authors.forename: Pascal
authors.initials: P
authors.lastname: Sabouraud
authors.forename: Philippe
authors.initials: P
authors.lastname: Birembaut
authors.forename: Luc Laurier
authors.initials: LL
authors.lastname: Oligny
authors.forename: Bernard
authors.initials: B
authors.lastname: Roussel
authors.forename: Martine
authors.initials: M
authors.lastname: Doco-Fenzy
mesh_terms: D000015:Abnormalities, Multiple; D001706:Biopsy; D002675:Child, Preschool; D017809:Fatal Outcome; D005923:Glomerulosclerosis, Focal Segmental / Q000473:pathology*; D006801:Humans; D007676:Kidney Failure, Chronic / Q000473:pathology*; D007678:Kidney Glomerulus / Q000473:pathology*; D008297:Male; D008831:Microcephaly / Q000473:pathology* / Q000503:physiopathology; D009404:Nephrotic Syndrome / Q000473:pathology* / Q000503:physiopathology; D012640:Seizures / Q000473:pathology / Q000503:physiopathology; D013577:Syndrome