Results 171 to 180 of about 7,351 (200)

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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Sitosterol xanthomatosis

Journal of the European Academy of Dermatology and Venereology, 2006
AbstractBackground  Sitosterolaemia is a lipid disorder in which plasma plant sterol levels are extremely elevated. Sitosterolaemia is clinically characterized by tuberous and tendon xanthomas, premature vascular disease and arthritis.Objective  To report a case of sitosterolaemia diagnosed by cutaneous manifestations and to review this rare disease ...
S S S, Guirado, J S, Conejo-Mir, M A, Muñoz, J B, Wite, L R, Fernandez-Freire, J V, Ortíz   +5 more
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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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Subcutaneous xanthomatosis

British Journal of Dermatology, 1990
A patient with multiple subcutaneous xanthomata in whom there were only minor abnormalities of the fasting serum lipid profile is described. To our knowledge, this is only the second published case of subcutaneous xanthomatosis.
C B, Archer, D E, Sharvill, N P, Smith
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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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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

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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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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Normolipemic subcutaneous xanthomatosis

The American Journal of Medicine, 1983
A patient with diabetes mellitus is described in whom an unusual xanthomatosis developed involving large areas of the subcutaneous tissue and vocal cords. Few lesions were present on the skin. Plasma lipid, lipoprotein, apolipoprotein, and cholestanol levels revealed normal patterns.
R, Fleischmajer, E J, Schaefer, A E, Gal, P G, Pentchev, G S, Tint   +4 more
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XANTHOMATOSIS

Journal of the American Medical Association, 1932
Xanthomatosis is a disease of lipoid metabolism in which storage tumors of lipoid appear in various places and in various organs, sometimes profoundly affecting the bodily health and welfare. There are five clinical entities included under this heading; namely, Gaucher's disease, Niemann-Pick's disease, Schuller-Christian's disease, the xanthomas ...
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