| Late-onset nephrotic syndrome and severe cerebellar atrophy in Galloway-Mowat syndrome. | |
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MedLine Citation:
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PMID: 16217710 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Galloway-Mowat syndrome (GMS) is a rare autosomal-recessive disorder characterised by nephrotic syndrome, microcephaly, and variable brain anomalies. The prognosis is poor with death almost inevitably supervening before the age of 6 years, but atypical cases with later onset of proteinuria and a more protracted course are on record. We report a female offspring from consanguineous parents suffering from microcephaly, profound psychomotor retardation, epilepsy, hiatal hernia, and striking cerebellar atrophy in whom a nephrotic syndrome became apparent at age 16 years. Renal biopsy revealed focal segmental glomerulosclerosis and glomerular basement membrane abnormalities. We postulate that this patient had a milder form of GMS with severe and diffuse cerebellar atrophy as the leading central nervous system abnormality. |
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Authors:
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J O Steiss; S Gross; B A Neubauer; A Hahn |
Publication Detail:
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Type: Comparative Study; Journal Article |
Journal Detail:
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Title: Neuropediatrics Volume: 36 ISSN: 0174-304X ISO Abbreviation: Neuropediatrics Publication Date: 2005 Oct |
Date Detail:
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Created Date: 2005-10-11 Completed Date: 2006-01-17 Revised Date: 2008-01-16 |
Medline Journal Info:
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Nlm Unique ID: 8101187 Medline TA: Neuropediatrics Country: Germany |
Other Details:
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Languages: eng Pagination: 332-5 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, University of Giessen, Germany. Jens-Oliver.Steiss@paediat.med.uni-giessen.de |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Age of Onset Cerebellar Diseases / physiopathology* Child Child, Preschool Female Humans Infant Kidney Diseases / physiopathology* Magnetic Resonance Imaging / methods Male Microcephaly / physiopathology* Nephrotic Syndrome / physiopathology* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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