| Cerebellar defect associated with Schimke immuno-osseous dysplasia. | |
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MedLine Citation:
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PMID: 11421418 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report the finding of an absent cerebellar hemisphere and partial absence of the cerebellar vermis in a child with dysmorphic features, spondyloepiphyseal dysplasia, steroid resistant nephrotic syndrome secondary to focal segmental glomerulosclerosis and T-cell lymphopenia (Schimke immuno-osseous dysplasia). These findings have not, to our knowledge, been described before and are likely to represent the consequence of a vascular event either in-utero or in early infancy. CONCLUSION: Cerebral imaging should be performed early in the course of the disease and should be repeated if further neurological events develop. |
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Authors:
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A S Dhillon; S Chapman; D V Milford |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: European journal of pediatrics Volume: 160 ISSN: 0340-6199 ISO Abbreviation: Eur. J. Pediatr. Publication Date: 2001 Jun |
Date Detail:
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Created Date: 2001-06-25 Completed Date: 2001-11-01 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7603873 Medline TA: Eur J Pediatr Country: Germany |
Other Details:
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Languages: eng Pagination: 372-4 Citation Subset: IM |
Affiliation:
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Department of Nephrology, Birmingham Children's Hospital NHS Trust, UK. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Cerebellum
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pathology* Female Humans Infant, Newborn Infant, Premature Infant, Premature, Diseases / pathology* Magnetic Resonance Imaging Osteochondrodysplasias / pathology* Syndrome |
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