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KMID : 1189120220190010022
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대한의학유전학회지
2022 Volume.19 No. 1 p.22 ~ p.26
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Cerebrotendinous xanthomatosis in a 10-year-old male presenting with Achilles tendon xanthoma and mild intellectual disability: A case report
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Yoon Ji-Hye
Kim Ka-Young
Lee Sang-Yun
Kim Soo-Yeon
Lee Young-Ah
Ki Chang-Seok
Song Jung-Han
Shin Choong-Ho
Lee Yun-Jeong
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Abstract
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Cerebrotendinous xanthomatosis (CTX) is a rare genetic disease caused by a defciency of enzymes for the synthesis of bile acid, resulting in the accumulation of cholestanol with reduced chenodeoxycholic acid (CDCA) production and causing various symptoms such as chronic diarrhea in infancy, juvenile cataracts in childhood, tendon xanthomas in adolescence and young adulthood, and progressive neurologic dysfunction in adulthood. Because oral CDCA replacement therapy can effectively prevent disease progression, early diagnosis and treatment are critical in CTX. This study reports the case of CTX in a 10-year-old male who presented with Achilles tendon xanthoma and mild intellectual disability. Biochemical testing showed normal cholesterol and sitosterol levels but elevated cholestanol levels. Genetic testing showed compound heterozygous variants of CYP27A1, c.379C>T (p.Arg127Trp), and c.1214G>A (p.Arg405Gln), which confrmed the diagnosis of CTX. The patient had neither cataracts nor other focal neurologic defcits and showed no abnormalities on brain imaging. The patient received oral CDCA replacement therapy without any adverse effects; thereafter, the cholestanol level decreased and no disease progression was noted. The diagnostic possibility of CTX should be considered in patients with tendon xanthoma and normolipidemic conditions to prevent neurological deterioration.
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KEYWORD
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Cerebrotendinous xanthomatosis, Xanthoma, CYP27A1 protein, Intellectual disability
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