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Case Reports in Nephrology
Volume 2016 (2016), Article ID 4386291, 5 pages
http://dx.doi.org/10.1155/2016/4386291
Case Report

Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome

1Department of Pediatric Nephrology, Gulhane Military Medical Academy, Etlik, Kecioren, 06100 Ankara, Turkey
2Department of Pediatrics, Gulhane Military Medical Academy, Etlik, Kecioren, 06100 Ankara, Turkey
3Department of Radiology, Gulhane Military Medical Academy, Etlik, Kecioren, 06100 Ankara, Turkey
4Department of Pathology, Gulhane Military Medical Academy, Etlik, Kecioren, 06100 Ankara, Turkey
5Department of Medical Genetics, Gulhane Military Medical Academy, Etlik, Kecioren, 06100 Ankara, Turkey

Received 7 March 2016; Accepted 24 May 2016

Academic Editor: Salih Kavukcu

Copyright © 2016 Cengiz Zeybek et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.