title: Additional findings in Galloway-Mowat syndrome.
abstract: The Galloway-Mowat syndrome consists of early onset nephrotic syndrome and central nervous system anomalies. Additional anomalies including hiatal hernias have been reported but are not consistently present. Various renal histopathologic changes have been reported and it is unclear whether these represent heterogeneity within the syndrome or different stages of disease progression. We describe a patient with Galloway-Mowat syndrome who had a renal biopsy at 9 months that showed minimal changes. She died at 42 months at which time the renal autopsy finding was diffuse mesangial sclerosis. Neuropathologic findings included a small brain with cerebral dysplasia, leukomalacia and absence of the cerebellar granular layer without leptomeningeal heterotopia. The autopsy also revealed bilateral ovarian agenesis. This is the first report of serial histopathologic changes and ovarian agenesis in Galloway-Mowat syndrome.
authors.affiliation: Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania, 19104, USA.
authors.forename: K
authors.initials: K
authors.lastname: Kucharczuk
authors.forename: A M
authors.initials: AM
authors.lastname: de Giorgi
authors.forename: J
authors.initials: J
authors.lastname: Golden
authors.forename: L
authors.initials: L
authors.lastname: Zacharowicz
authors.forename: L P
authors.initials: LP
authors.lastname: van den Heuvel
authors.forename: B S
authors.initials: BS
authors.lastname: Kaplan
mesh_terms: D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D005920:Glomerular Mesangium / Q000473:pathology; D006801:Humans; D007668:Kidney / Q000473:pathology; D009404:Nephrotic Syndrome / Q000473:pathology*; D010053:Ovary / Q000002:abnormalities; D012598:Sclerosis; D013577:Syndrome