Results 71 to 80 of about 265 (124)

Case Report and Current Literature Review of Adult Cerebrotendinous Xanthomatosis: Evaluation of Treatment Response Based on Gait Analysis Adult Cerebrotendinous Xanthomatosis

Haseki Tıp Bülteni
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive neurometabolic disease caused by a mutation in the CYP27A1 gene and deficiency of the mitochondrial 27-sterol hydroxylase enzyme.
Eser Bulus, Sahin Avci, F. Feriha Ozer
doaj   +1 more source

Screening for cerebrotendinous xanthomatosis [PDF]

Journal of Inherited Metabolic Disease, 2014
James J, Pitt, Heidi, Peters
openaire   +2 more sources

Cerebrotendinous xanthomatosis: A report of 3 cases

JAAD Case Reports, 2020
Katharine Saussy, MD, Neelesh Jain, BS, Andrea Murina, MD   +2 more
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Cerebrotendinous xanthomatosis: a treatable hereditary neuro-metabolic disease

Clinics, 2010
Ana Claudia Rodrigues de Cerqueira, Antônio Egídio Nardi, Jose Marcelo Ferreira Bezerra   +2 more
doaj   +1 more source

Cerebrotendinous xanthomatosis [PDF]

Neurology, 2000
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Cerebrotendinous Xanthomatosis: A Reversible Rarity if Caught on Time

Indian Dermatology Online Journal
Parag Suresh, Prabin P. Dev, Niti Khunger, Shruti Sharma   +3 more
doaj   +1 more source

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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
openaire   +3 more sources

Cerebrotendinous Xanthomatosis

New England Journal of Medicine, 1968
TENDINOUS and tuberous xanthomas have been almost exclusively associated with hyperlipidemic states. Such lesions have been studied intensively for the past 100 years, but only in very rare instances are they associated with similar xanthomatous lesions of the central nervous system (CNS).
J R, Schimschock, E C, Alvord, P D, Swanson   +2 more
openaire   +4 more sources

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
openaire   +2 more sources

Cerebrotendinous xanthomatosis

The Indian Journal of Pediatrics, 2010
We 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, Vivek, Chetal, Virupaxi, Hattiholi   +2 more
openaire   +3 more sources