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Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome.

ABSTRACT: Galloway-Mowat syndrome (GMS) is an autosomal recessive disorder with a poor prognosis that was first defined as a triad of central nervous system involvement, hiatal hernia, and nephrotic syndrome. However, this syndrome is now known to have a heterogeneous clinical presentation. The nephrotic syndrome is steroid resistant and is responsible for the outcome. The combination of collapsing glomerulopathy and GMS is very rare. A 26-month-old boy presented with steroid-resistant nephrotic syndrome associated with neurologic findings, including microcephaly, psychomotor retardation, and nystagmus. Magnetic resonance imaging showed marked cerebral atrophy, optic atrophy, and hypomyelination. A renal biopsy was consistent with collapsing glomerulopathy. If collapsing glomerulopathy is associated with neurological abnormalities, especially with microcephaly, clinicians should consider GMS as a possible underlying cause.

SUBMITTER: Zeybek C

PROVIDER: S-EPMC4923528 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome.

Zeybek Cengiz C Basbozkurt Gokalp G Hamcan Salih S Ozcan Ayhan A Gul Davut D Gok Faysal F

Case reports in nephrology 20160614

Galloway-Mowat syndrome (GMS) is an autosomal recessive disorder with a poor prognosis that was first defined as a triad of central nervous system involvement, hiatal hernia, and nephrotic syndrome. However, this syndrome is now known to have a heterogeneous clinical presentation. The nephrotic syndrome is steroid resistant and is responsible for the outcome. The combination of collapsing glomerulopathy and GMS is very rare. A 26-month-old boy presented with steroid-resistant nephrotic syndrome ...[more]

PMID: 27403357

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