S-Space College of Medicine/School of Medicine (의과대학/대학원) Dept. of Medicine (의학과) The Seoul Journal of Medicine The Seoul Journal of Medicine Vol. 29 No.1 (1988)
Cerebrotendinous Xanthomatosis - A Case Report of Two Siblings -
형제에게서 발현된 뇌건성황색종증 2례 보고
- Kim, Jong Sung; Lee, Sang Soo; Lee, Kwang Woo; Lee, Sang Bok; Myung, Ho Jin; Chi, Je G.
- Issue Date
- Seoul J Med, Vol.29 No.1, pp. 83-89
- Cerebrotendinous 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.