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KMID : 0363220130510060450
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Korean Journal of Dermatology
2013 Volume.51 No. 6 p.450 ~ p.454
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Two Siblings with Cerebrotendinous Xanthomatosis
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Park Jeong-Young
Shin Dong-Hoon
Choi Jong-Soo
Park Mee-Young
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Abstract
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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.
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KEYWORD
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Achilles tendon xanthoma, Cerebrotendinous xanthomatosis
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