Korean J Dermatol.  2013 Jun;51(6):450-454.

Two Siblings with Cerebrotendinous Xanthomatosis

• Park JY
• Shin DH
• Choi JS
• Park MY

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.

Keyword

Achilles tendon xanthoma; Cerebrotendinous xanthomatosis

MeSH Terms

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
Chenodeoxycholic Acid
Cholestanetriol 26-Monooxygenase
Cholesterol
Coenzyme A
Dopamine Agonists
Oxidoreductases