J Korean Neurol Assoc.  2000 Jan;18(1):94-97.

A Case of Cerebrotendinous Xanthomatosis

• Jung SJ
• Kim HT

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 Mg/ml ; normal <2 Mg/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.

Keyword

Cerebrotendinous xanthomatosis; Cholestanol

MeSH Terms

Achilles Tendon
Atrophy
Biopsy
Cataract
Cataract Extraction
Cholestanetriol 26-Monooxygenase
Cholestanol
Cholesterol
Crystallins
Dysarthria
Extremities
Gait
Giant Cells
Humans
Middle Aged
Neurologic Examination
Neurologic Manifestations
Peripheral Nervous System
Physical Examination
Quadriplegia
Reflex, Stretch
Tendons
Xanthomatosis
Xanthomatosis, Cerebrotendinous*
Cholestanetriol 26-Monooxygenase
Cholestanol
Cholesterol
Crystallins