Two siblings with cerebrotendinous xanthomatosis

Title
Two siblings with cerebrotendinous xanthomatosis
Author(s)
신동훈박정영최종수박미영
Issue Date
201306
Citation
Korean Journal of Dermatology, v.51, no.6, pp.450 - 454
Abstract
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by sterol 27-hydroxylase (CYP27) deficiency. We report two CTX siblings that were presented with typical manifestations such as achilles tendon xanthomas, mental retardation, progressive gait ataxia, and upper motor signs. Their parents and other three sisters were healthy. Serum cholesterol level was within normal limits for both siblings. The older brother has been treated conservatively with muscle relaxant and dopamine agonist because the disease was so progressive, but the younger sister has been treated with 250 mg/day chenodeoxycholic acid (CDCA) and 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase inhibitor (simvastatin 40 mg/day) to prevent the progressive neurologic dysfunction.
URI
http://hdl.handle.net/YU.REPOSITORY/29792
ISSN
0494-4739
Appears in Collections:
의과대학 > 피부과학교실 > Articles
의과대학 > 영상의학과학교실 > Articles
의과대학 > 신경과학교실 > Articles
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