No abstract available.
Cholestanol ; Spinal Cord* ; Xanthomatosis, Cerebrotendinous*

Cerebrotendinous xanthomatosis is a very rare lipid storage disease which is inherited as autosomal recessive trait. The disease is due to an abnormality of cholesterol metabolism, in which excess formation of cholestanol and defect of bile acid synthesis were found. So abnormally high concentration of cholestanol is deposited within the nervous system, the tendons and the other tissues. But, the basic biochemical defect has not as yet been identified. Cerebrotendinous xanthomatosis is characterized by bilateral juvenile cataracts and tendinous xanthomas followed by progressive dementia and cerebellar ataxia. The condition progresses slowly. Death usually occurs during the sixth or seventh decade due to progressive pseudobulbar palsy. The authors have experienced and report a case of presumed cerebrotendinous xanthomatosis in 23-year-old Korean female, and the literatures were reviewed briefly.
Bile ; Cataract ; Cerebellar Ataxia ; Cholestanol ; Cholesterol ; Dementia ; Female ; Humans ; Metabolism ; Nervous System ; Pseudobulbar Palsy ; Tendons ; Xanthomatosis* ; Xanthomatosis, Cerebrotendinous ; Young Adult

Cerebrotendinous xanthomatosis(CTX) is a rare familial, autosomal disease which seems to be inherited as a Mendelian recessive. It was first described by van Bogaert et al, in 1937 and only about 30 cases have been reported in the literature. CTX is characterized by tendon xanthomas, bilateral juvenile cataracts, progressive dementia and cerebella ataxia. And deposition of cholestanol appears to be the primary lesion in this disease. We experienced a patient, 43-year-old man who sbowed bilateral cataracts, mold cerebellar dysfunction and multiple xanthomas, the tendinous xanthomatosis was confirmed pathologically and the brain CT scan abnormalities were correlated with neuropathologic findings of CTX. We performed extracapsular cataract extraction on both eyes with a significant improvement in corrected vision.
Adult ; Ataxia ; Brain ; Cataract ; Cataract Extraction ; Cerebellar Diseases ; Cholestanol ; Dementia ; Fungi ; Humans ; Tendons ; Tomography, X-Ray Computed ; Xanthomatosis ; Xanthomatosis, Cerebrotendinous*

Cerebrotendinous xanthomatosis(CTX) is a rare familial, autosomal disease which seems to be inherited as a Mendelian recessive. It was first described by van Bogaert et al, in 1937 and only about 30 cases have been reported in the literature. CTX is characterized by tendon xanthomas, bilateral juvenile cataracts, progressive dementia and cerebella ataxia. And deposition of cholestanol appears to be the primary lesion in this disease. We experienced a patient, 43-year-old man who sbowed bilateral cataracts, mold cerebellar dysfunction and multiple xanthomas, the tendinous xanthomatosis was confirmed pathologically and the brain CT scan abnormalities were correlated with neuropathologic findings of CTX. We performed extracapsular cataract extraction on both eyes with a significant improvement in corrected vision.
Adult ; Ataxia ; Brain ; Cataract ; Cataract Extraction ; Cerebellar Diseases ; Cholestanol ; Dementia ; Fungi ; Humans ; Tendons ; Tomography, X-Ray Computed ; Xanthomatosis ; Xanthomatosis, Cerebrotendinous*

Cerebrotendinous xanthomatosis is a rare, inherited lipid-storage disease clinically characterized by tendon xanthoma, progressive neurologic dysfunction(cerebellar ataxia, spinal cord involvement, mental retardation), premature atherosclerosis and cataracts. Substantial elevation of serum cholestanol and urinary bile alcohols with low to normal plasma cholesterol concentrations establishes the diagnosis. Up to now, there have not been any reported case of cerebrotendinous xanthomatosis in Korea. So, we report herein a 36-year-old Korean woman with the clinical features of cerebrotendinous xanthomatosis.
Adult ; Ataxia ; Atherosclerosis ; Cataract ; Cholestanol ; Cholestanols ; Cholesterol ; Diagnosis ; Female ; Humans ; Korea ; Plasma ; Spinal Cord ; Tendons ; Xanthomatosis ; Xanthomatosis, Cerebrotendinous*

Cerebrotendinous Xanthomatosis is a rare inherited autosomal recessive disorder characterized by an increased plasma cholestanol level and the accumulation of sterol in tendon and nervous system. The primary biochemical abnormality is a defect in the synthesis of bile acid due to a lack of hepatic mitochondrial sterol-26-hydroxylase activity. The clinical symptoms usually begin in the 2nd decade and include cataract, xanthoma, and progressive neurological dysfunction. There are variable abnormal findings in the eletrophysiologic and radiologic evaluation. The usual treatment consists of long-term administration of the chenodeoxycholic acid (CDCA or UDCA) or cholic acid, which may correct the biochemical abnormality. We report a case of Cerebrotendinous Xanthomatosis in a 32 year old male patient suffered from gait disturbance and tendon xanthoma in both achilles tendons and left knee area.
Achilles Tendon ; Adult ; Bile ; Cataract ; Chenodeoxycholic Acid ; Cholestanol ; Cholic Acid ; Gait ; Humans ; Knee ; Male ; Nervous System ; Plasma ; Tendons ; Xanthomatosis ; Xanthomatosis, Cerebrotendinous*

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.
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*