Results 191 to 200 of about 3,665 (213)

Cerebrotendinous Xanthomatosis

Neurologic Clinics, 1989
Cerebrotendinous xanthomatosis is a rare familial lipid storage that is caused by a defect in bile acid synthesis. As a result, large amounts of cholestanol, the 5 alpha-dihydro derivative of cholesterol, accumulate in virtually every tissue, with extra large deposits in the nervous system, xanthomas, and bile.
V M, Berginer, G, Salen, S, Shefer
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Cerebrotendinous xanthomatosis revisited

Practical Neurology, 2021
Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage syndrome defined clinically by the triad of progressive neurodegeneration, juvenile cataracts and tendon xanthomas in adults. It is treatable, and a prompt diagnosis can improve outcomes. We describe a patient with this condition who presented with progressive ataxia.
Seyed Mohammad Baghbanian, Mohammad Reza Mahdavi Amiri, Hadi Majidi   +2 more
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Cerebrotendinous xanthomatosis

Current Opinion in Lipidology, 1994
Cerebrotendinous 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, 2001
Cerebrotendinous 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, V, García-Patos, L, Rodríguez, A, Selva, P, Díaz, B G, Wolthers, A, Castells   +6 more
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Cerebrotendinous Xanthomatosis

The Journal of Dermatology, 1990
AbstractA 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, 1992
Cerebrotendinous 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, E M, Joosten, R A, Wevers   +2 more
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Cerebrotendinous Xanthomatosis

Archives of Ophthalmology, 1976
A 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, 1992
Cerebrotendinous 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, J R, Cruysberg, A F, Van Heijst, F S, Janssen-Zijlstra, W O, Renier, B G, Van Engelen, J J, Tolboom   +6 more
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Cerebrotendinous xanthomatosis

2022
Clinical 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, 1985
Abstract: 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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