Two Siblings with Cerebrotendinous Xanthomatosis.
- Author:
Jeong Young PARK
1
;
Dong Hoon SHIN
;
Jong Soo CHOI
;
Mee Young PARK
Author Information
1. Department of Dermatology, College of Medicine, Yeungnam University, Daegu, Korea. dhshin@med.yu.ac.kr
- Publication Type:Case Report
- Keywords:
Achilles tendon xanthoma;
Cerebrotendinous xanthomatosis
- MeSH:
Achilles Tendon;
Chenodeoxycholic Acid;
Cholestanetriol 26-Monooxygenase;
Cholesterol;
Coenzyme A;
Dopamine Agonists;
Gait Ataxia;
Humans;
Intellectual Disability;
Muscles;
Neurologic Manifestations;
Oxidoreductases;
Parents;
Siblings;
Xanthomatosis;
Xanthomatosis, Cerebrotendinous
- From:Korean Journal of Dermatology
2013;51(6):450-454
- CountryRepublic of Korea
- Language:Korean
-
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.
