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      Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome

      case-report

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          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.

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          Most cited references22

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          Cellular and molecular mechanisms underlying axon formation, growth, and branching

          Proper brain wiring during development is pivotal for adult brain function. Neurons display a high degree of polarization both morphologically and functionally, and this polarization requires the segregation of mRNA, proteins, and lipids into the axonal or somatodendritic domains. Recent discoveries have provided insight into many aspects of the cell biology of axonal development including axon specification during neuronal polarization, axon growth, and terminal axon branching during synaptogenesis.
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            Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs.

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              WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.

              Infantile-onset cerebellar atrophy (CA) is a clinically and genetically heterogeneous trait. Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome. Very recently, WDR73 deficiency was identified as the cause of GMS in five individuals. To evaluate the role of WDR73 mutations as a cause of GMS and other forms of syndromic CA, we performed Sanger or exome sequencing in 51 unrelated patients with CA and variable brain anomalies and in 40 unrelated patients with a diagnosis of GMS. We identified 10 patients from three CA and from two GMS families with WDR73 mutations including the original family described with CA, mental retardation, optic atrophy, and skin abnormalities (CAMOS). There were five novel mutations, of which two were truncating and three were missense mutations affecting highly conserved residues. Individuals carrying homozygous WDR73 mutations mainly presented with a pattern of neurological and neuroimaging findings as well as intellectual disability, while kidney involvement was variable. We document postnatal onset of CA, a retinopathy, basal ganglia degeneration, and short stature as novel features of WDR73-related disease, and define WDR73-related disease as a new entity of infantile neurodegeneration.
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                Author and article information

                Journal
                Case Rep Nephrol
                Case Rep Nephrol
                CRIN
                Case Reports in Nephrology
                Hindawi Publishing Corporation
                2090-6641
                2090-665X
                2016
                14 June 2016
                : 2016
                : 4386291
                Affiliations
                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
                Author notes

                Academic Editor: Salih Kavukcu

                Article
                10.1155/2016/4386291
                4923528
                27403357
                b5977a9e-b33b-440b-ace3-617e3e948bbd
                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.

                History
                : 7 March 2016
                : 24 May 2016
                Categories
                Case Report

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