| Association of the congenital bone marrow failure syndromes with retinopathy, intracerebral calcification and progressive neurological impairment. | |
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MedLine Citation:
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PMID: 11995960 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We present a child with Fanconi anaemia and congenital hypopituitarism, who developed intracerebral calcifications, progressive spasticity and retinopathy. The chromosome fragility with mitomycin C was increased in both the patient and his sibling, confirming a diagnosis of Fanconi anaemia. Aplastic anaemia in association with intracerebral calcifications has been described in patients with dyskeratosis congenita and Revesz syndrome, but not so far in confirmed cases of Fanconi anaemia. This case further illustrates the greater overlap of associated features in congenital bone marrow failure syndromes. It also indicates that Fanconi anaemia should be actively excluded where such associated features are found. |
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Authors:
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N A Gayatri; M I Hughes; I C Lloyd; R F Wynn |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society Volume: 6 ISSN: 1090-3798 ISO Abbreviation: Eur. J. Paediatr. Neurol. Publication Date: 2002 |
Date Detail:
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Created Date: 2002-05-08 Completed Date: 2002-10-01 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 9715169 Medline TA: Eur J Paediatr Neurol Country: England |
Other Details:
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Languages: eng Pagination: 125-8 Citation Subset: IM |
Affiliation:
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Department of Paediatric Haematology/Oncology, Central Manchester & Manchester Children's University Hospitals NHS Trust, Pendlebury, UK. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Brain / pathology Brain Diseases / diagnosis, genetics* Calcinosis / diagnosis, genetics* Chromosome Fragility / genetics Consanguinity Fanconi Anemia / diagnosis, genetics* Humans Magnetic Resonance Imaging Male Muscle Spasticity / diagnosis, genetics* Quadriplegia / diagnosis, genetics* Retinal Diseases / diagnosis, genetics* Tomography, X-Ray Computed |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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