Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome
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 synd...
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| Format: | Article |
| Language: | English |
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Wiley
2016-01-01
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| Series: | Case Reports in Nephrology |
| Online Access: | http://dx.doi.org/10.1155/2016/4386291 |
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| author | Cengiz Zeybek Gokalp Basbozkurt Salih Hamcan Ayhan Ozcan Davut Gul Faysal Gok |
| author_facet | Cengiz Zeybek Gokalp Basbozkurt Salih Hamcan Ayhan Ozcan Davut Gul Faysal Gok |
| author_sort | Cengiz Zeybek |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-f741f91ef73d41a2916beed858ff529e |
| institution | Kabale University |
| issn | 2090-6641 2090-665X |
| language | English |
| publishDate | 2016-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Nephrology |
| spelling | doaj-art-f741f91ef73d41a2916beed858ff529e2025-08-20T03:25:53ZengWileyCase Reports in Nephrology2090-66412090-665X2016-01-01201610.1155/2016/43862914386291Collapsing Glomerulopathy in a Child with Galloway-Mowat SyndromeCengiz Zeybek0Gokalp Basbozkurt1Salih Hamcan2Ayhan Ozcan3Davut Gul4Faysal Gok5Department of Pediatric Nephrology, Gulhane Military Medical Academy, Etlik, Kecioren, 06100 Ankara, TurkeyDepartment of Pediatrics, Gulhane Military Medical Academy, Etlik, Kecioren, 06100 Ankara, TurkeyDepartment of Radiology, Gulhane Military Medical Academy, Etlik, Kecioren, 06100 Ankara, TurkeyDepartment of Pathology, Gulhane Military Medical Academy, Etlik, Kecioren, 06100 Ankara, TurkeyDepartment of Medical Genetics, Gulhane Military Medical Academy, Etlik, Kecioren, 06100 Ankara, TurkeyDepartment of Pediatric Nephrology, Gulhane Military Medical Academy, Etlik, Kecioren, 06100 Ankara, TurkeyGalloway-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.http://dx.doi.org/10.1155/2016/4386291 |
| spellingShingle | Cengiz Zeybek Gokalp Basbozkurt Salih Hamcan Ayhan Ozcan Davut Gul Faysal Gok Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome Case Reports in Nephrology |
| title | Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome |
| title_full | Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome |
| title_fullStr | Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome |
| title_full_unstemmed | Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome |
| title_short | Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome |
| title_sort | collapsing glomerulopathy in a child with galloway mowat syndrome |
| url | http://dx.doi.org/10.1155/2016/4386291 |
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