| Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosis. | |
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MedLine Citation:
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PMID: 21073839 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder due to a deficiency of the mitochondrial enzyme sterol 27-hydroxylase (CYP 27) with reduced or no chenodeoxycholic synthesis. This deficiency leads to an accumulation of cholestanol in different sites such as the eye lens, central nervous system or tendons. We report a 64-year-old female patient with a progressive gait disorder associated with cognitive decline since the age of 59. The patient had no mental retardation, cataract or chronic diarrhea. Her family reported increasing behavioral modifications 10 years previously. Clinical examination revealed a spastic paraplegia and bilateral xanthomas on the Achilles tendons. Cerebral magnetic resonance imaging (MRI) revealed diffuse hyperintense T2 abnormalities in the pyramidal tracts from the internal capsules to the cerebral peduncles also Technetium-99m-ECD brain SPECT showed a severe cerebellar hypoperfusion. Serum cholestanol analysis was 7 µmol/l (N). After 2 years, she was bedridden and died of aspiration pneumonia. The neuropathological study confirmed the CTX diagnosis and the sequencing analysis revealed that she was compound heterozygous for two mutations in the CYP27A1 gene: 1435 C > T (exon 7) on one allele and a new mutation, 1017 G > C (exon 5) on the other. The interest of the present case is to report neuropathology findings strongly correlated with the MRI and SPECT abnormalities. |
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Authors:
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D Wallon; L Guyant-Maréchal; A Laquerrière; R A Wevers; O Martinaud; L A J Kluijtmans; H G Yntema; P Saugier-Veber; D Hannequin |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Clinical neuropathology Volume: 29 ISSN: 0722-5091 ISO Abbreviation: Clin. Neuropathol. Publication Date: 2010 Nov-Dec |
Date Detail:
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Created Date: 2010-11-15 Completed Date: 2011-01-06 Revised Date: 2012-01-30 |
Medline Journal Info:
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Nlm Unique ID: 8214420 Medline TA: Clin Neuropathol Country: Germany |
Other Details:
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Languages: eng Pagination: 361-4 Citation Subset: IM |
Affiliation:
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Department of Neurology, Rouen University Hospital, France. david.wallon@chu.rouen.fr |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Cytochrome P-450 CYP27A1
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genetics Female Humans Magnetic Resonance Imaging Middle Aged Tomography, Emission-Computed, Single-Photon Xanthomatosis, Cerebrotendinous / diagnosis*, genetics, pathology* |
| Chemical | |
Reg. No./Substance:
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EC 1.14.-/Cytochrome P-450 CYP27A1; EC 1.14.13.15/CYP27A1 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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