Results 141 to 150 of about 2,521 (182)
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Cerebrotendinous xanthomatosis
The Indian Journal of Pediatrics, 2010We describe two adolescent Indian siblings with cerebrotendinous xanthomatosis with cognitive impairment, progressive neurological deterioration, juvenile cataracts and chronic diarrhea. Both patients had bilateral Achilles tendon xanthomata. Rapid progression of disease was an unusual finding in these cases.
Mahesh, Kamate +2 more
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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
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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Clinical Genetics, 2012 Two unrelated individuals were referred to Lipid Clinics in The Netherlands and Chile with extreme xanthomatosis and hypercholesterolemia. Both were diagnosed with heterozygous familial hypercholesterolemia (heFH) after molecular genetic analysis of the ...
Erik Stroes +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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Case report: Cerebrotendinous Xanthomatosis masquerading as adult ADHD in psychiatric practice [PDF]
Frontiers in PsychiatryJeong Wook Park +2 more
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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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