Results 81 to 90 of about 265 (124)
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Update on cerebrotendinous xanthomatosis
Current Opinion in Lipidology, 2021Purpose of review Cerebrotendinous xanthomatosis (CTX) is a rare genetic lipid storage disorder with highly pleomorphic clinical phenotype. Complications of this disease can be devastating and may include severe cognitive impairment and dementia in later stages.
Andrea E, DeBarber, P Barton, Duell
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Cerebrotendinous xanthomatosis
Current Opinion in Lipidology, 1994Cerebrotendinous xanthomatosis is an autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27) gene. Recent cloning and characterization of CYP27 enables further analysis and understanding of the pathophysiology of this multisystem disease.
E, Leitersdorf, V, Meiner
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Cerebrotendinous xanthomatosis
Journal of the American Academy of Dermatology, 2001Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase gene. The accumulation of cholestanol in various tissues characterizes this disease. Diagnosis is based on determination of urinary bile alcohols.
S, Bel +6 more
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Cerebrotendinous Xanthomatosis
The Journal of Dermatology, 1990AbstractA case report on a 23‐year‐old female patient with cerebrotendinous xanthomatosis (CTX) is presented. From 8 years of age, the patient clinically showed multiple xanthoma masses on both knees, both heels, and the nasal bridge, juvenile cataracts, multiple abnormal neurologic dysfunctions, and dementia.
S Y, Hwang, K H, Lee, J I, Ahn
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Cerebrotendinous xanthomatosis
Clinical Neurology and Neurosurgery, 1992Cerebrotendinous xanthomatosis (CTX) is a familial sterol storage disease based on an inborn error of metabolism involving bile acid synthesis. Predominant clinical features are a chronic progressive neurological syndrome, mental deterioration, bilateral cataract and xanthomas.
J L, van Hellenberg Hubar +2 more
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Cerebrotendinous Xanthomatosis
Archives of Ophthalmology, 1976A case of presumed cerebrotendinous xanthomatosis is described. The association of cataracts with central nervous system signs and tendon xanthoma is noted. Deposition of cholestanol appears to be the primary lesion in this disease.
W P, Kearns, W S, Wood
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Paediatric cerebrotendinous xanthomatosis
Journal of Inherited Metabolic Disease, 1992Cerebrotendinous xanthomatosis (CTX; McKusick 213700) is a rare autosomal recessive inborn error of metabolism involving the mitochondrial 26-hydroxylation of the sterol side-chain in bile acid synthesis (Bjorkhem and Skrede 1989). Generally, patients with CTX are diagnosed in their third decade or later, symptoms appearing in or after the second ...
R A, Wevers +6 more
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Cerebrotendinous Xanthomatosis
2022Clinical History: 23-year-old mentally retarded female patient, presented with a history of seizures since childhood. On examination, the patient had cataracts bilaterally and soft tissue swellings along the posterior aspect of both ankles. No other significant family or personal history.
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Cerebrotendinous Xanthomatosis Is Treatable
Pediatric Dermatology, 1985Abstract: Cerebrotendinous xanthomatosis is a recessively inherited disorder of bile acid metabolism. Cataracts and tendinous xanthomas begin during ado‐lescence. Results of routine tests of plasma lipids are normal. Therapy with chenodeoxycholic acid may reduce the production of cholestanol and thus slow the course of the disease.
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