Browse

Cerebrotendinous Xanthomatosis - A Case Report of Two Siblings -
형제에게서 발현된 뇌건성황색종증 2례 보고

DC Field Value Language
dc.contributor.authorKim, Jong Sung-
dc.contributor.authorLee, Sang Soo-
dc.contributor.authorLee, Kwang Woo-
dc.contributor.authorLee, Sang Bok-
dc.contributor.authorMyung, Ho Jin-
dc.contributor.authorChi, Je G.-
dc.date.accessioned2009-08-07-
dc.date.available2009-08-07-
dc.date.issued1988-03-
dc.identifier.citationSeoul J Med, Vol.29 No.1, pp. 83-89-
dc.identifier.issn0582-6802-
dc.identifier.urihttps://hdl.handle.net/10371/6367-
dc.description.abstractCerebrotendinous xanthomatosis(CTX), a rare lipid storage disease with diverse
neurologic manifestations has, to our knowledge, never been reported in Korea, The authors
recently saw two Korean brothers with typical CTX. In the elder one, the clinical presentation
included childhood epilepsy, dementia, cataracts, spastic ataxia, and multiple tendon tumefaction
in chronological order. In the younger one, dementia, spastic ataxia, and distal muscle
atrophy were more pronounced, but tendon enlargement was mild and lenses were intact In
both patients, electroencephalograms, brain CT scans, and MRI scans showed various abnormalities
indicating diffuse central nervous system lesions more marked on the cerebellum.
Nerve conduction velocity studies revealed peripheral neuropathies. Evoked potential studies
were also abnormal, indicating central as well as peripheral conduction defects, Pathologically,
the essential features of Achilles tendon biopsies were scattered cholesterol clefts, xanthoma
cells, and surrounding granulomatous lesions representing foreign body reactions. The therapeutic
response of chenodeoxycholic acid medication was not remarkable.
-
dc.language.isoen-
dc.publisherSeoul National University College of Medicine-
dc.subjectCerebrotendinous xanthomatosis-
dc.subjectSibling study-
dc.titleCerebrotendinous Xanthomatosis - A Case Report of Two Siblings --
dc.title.alternative형제에게서 발현된 뇌건성황색종증 2례 보고-
dc.typeSNU Journal-
dc.contributor.AlternativeAuthor김종성-
dc.contributor.AlternativeAuthor이상수-
dc.contributor.AlternativeAuthor이광우-
dc.contributor.AlternativeAuthor이상복-
dc.contributor.AlternativeAuthor명호진-
dc.contributor.AlternativeAuthor지제근-
dc.citation.journaltitle서울 의대 잡지-
dc.citation.journaltitle서울 의대 학술지-
dc.citation.journaltitleSeoul Journal of Medicine-
dc.citation.endpage89-
dc.citation.number1-
dc.citation.pages83-89-
dc.citation.startpage83-
dc.citation.volume29-
Appears in Collections:
College of Medicine/School of Medicine (의과대학/대학원)Dept. of Medicine (의학과)The Seoul Journal of MedicineThe Seoul Journal of Medicine Vol. 29 No.1 (1988)
Files in This Item:
  • mendeley

Items in S-Space are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse