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J Korean Neurol Assoc. 2000;18(1):94-97.
- A Case of Cerebrotendinous Xanthomatosis
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Sang-Joon Jung, M.D., Hee-Tae Kim, M.D.
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Department of Neurology, College of Medicine, Hanyang University
- 뇌건성 황색종증 1예
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정상준, 김희태
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한양대학교 의과대학 신경과학교실
- Abstract
- Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive lipid-storage disease with abnormal deposition of cholesterol and cholestanol in multiple tissues. The disease is caused by mutations in the sterol 27-hydroxylase and characterized by tendon xanthoma, premature cataracts and various neurological manifestations in the central and peripheral nervous systems. A 47-year-old man presented with unsteadiness of gait and weakness on extremities. He had a bilateral cataract extraction at the age of 30 years. Physical examination revealed bilateral elongated mass on Achilles tendons. On neurologic examination, dysarthria, spastic quadriparesis and exaggerated deep tendon reflexes were noted. Surgical excisional biopsy of Achilles tendon revealed a crystalline clefts surrounded by many multinucle-ated giant cells. A moderate degree of cerebral and cerebellar cortical atrophy and focal high signal intensities in sub-cortical white matter were noted on T2-weighted magnetic resonance images. Serum cholestanol was elevated (22 μg/ml ; normal <2 μg/ml), while serum cholesterol was normal (186 mg/dl ; normal <250 mg/dl). With clinical, radiologi-cal and biochemical findings, we confirmed a rare case of cerebrotendinous xanthomatosis. J Korean Neurol Assoc 18(1):94~97, 2000
Key Words : Cerebrotendinous xanthomatosis, Cholestanol
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- 초록
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