| Cerebrotendinous xanthomatosis without tendon xanthomas mimicking Marinesco-Sjoegren syndrome: a case report. | |
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MedLine Citation:
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PMID: 8778269 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A 39 year old patient with cerebellar signs, juvenile cataracts, and dull normal intelligence had cerebrotendinous xanthomatosis without tendon xanthomas, diagnosed previously as Marinesco-Sjoegren syndrome. Cerebrotendinous xanthomatosis was proved by a greatly increased excretion of bile alcohols in the patient's urine. Cerebrotendinous xanthomatosis is a sterol storage disorder due to an autosomal recessive inherited defect of sterol 27-hydroxylase characterised by high cholestanol concentration in multiple tissues. If tendon xanthomas are not present, a diagnosis of cerebrotendinous xanthomatosis will often not be made, unless biochemical tests are performed. The clinical features of cerebrotendinous xanthomas strongly resembles Marinesco-Sjoegren syndrome. Marinesco-Sjoegren syndrome is a autosomal recessive disorder characterised by the triad cerebellar ataxia, congenital cataract, and mental retardation. Although a late onset after the first decade of life favours cerebrotendinous xanthomatosis as the underlying disease, a definite distinction between cerebrotendinous xanthomatosis without tendon xanthomas and Marinesco-Sjoegren syndrome based on clinical presentation may be difficult. It is considered that some patients with Marinesco-Sjoegren syndrome reported in the medical literature had cerebrotendinous xanthomatosis without tendon xanthomas. This is of crucial clinical relevance, because, by contrast with Marinesco-Sjoegren syndrome, treatment for cerebrotendinous xanthomatosis is already available. |
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Authors:
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H R Siebner; S Berndt; B Conrad |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of neurology, neurosurgery, and psychiatry Volume: 60 ISSN: 0022-3050 ISO Abbreviation: J. Neurol. Neurosurg. Psychiatr. Publication Date: 1996 May |
Date Detail:
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Created Date: 1996-09-19 Completed Date: 1996-09-19 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 2985191R Medline TA: J Neurol Neurosurg Psychiatry Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 582-5 Citation Subset: IM |
Affiliation:
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Department of Neurology, Technical University of Munich, Germany. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Cerebellum / pathology* Diagnosis, Differential Humans Magnetic Resonance Imaging Male Spinocerebellar Degenerations / pathology* Xanthomatosis / pathology* |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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