Results 161 to 170 of about 7,684 (214)

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

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.
S. Baghbanian, Mohammad Reza Mahdavi Amiri, H. Majidi   +2 more
semanticscholar   +1 more source

Movement disorders in cerebrotendinous xanthomatosis

Parkinsonism and Related Disorders, 2019
Cerebrotendinous xanthomatosis (CTX) is an inborn error of cholesterol and bile acid metabolism, leading to neuropsychiatric and systemic manifestations.
Bianca M L Stelten, Ron Wevers
exaly   +2 more sources

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
openaire   +2 more sources

Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis

Neurodegenerative Diseases, 2020
Objectives: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive inborn lipid storage disorder due to various pathogenic mutations in the CYP27A1 gene. Although the symptoms begin commonly in infancy, CTX diagnosis is often delayed. In this
Gulshan Yunisova, Z. Tufekcioglu, O. Doğu, B. Bilgiç, H. Kaleağası, Ş. Akça Kalem, E. Lohmann, H. Gurvit, M. Emre, H. Hanağası   +9 more
semanticscholar   +1 more source

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
openaire   +2 more sources

Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.

Molecular Genetics and Metabolism
OBJECTIVE Cerebrotendinous xanthomatosis (CTX) is an inherited metabolic disorder characterized by progressive neurologic and extraneurologic findings. The aim of this retrospective, descriptive study was to explore the time of presentation and diagnosis,
T. Zubarioglu, E. Kıykım, Çiğdem Aktuğlu-Zeybek, Engin Köse, F. T. Eminoğlu, Pelin Teke-Kısa, M. Cihan, Işıl Özer, A. Inci, Kübra Çilesiz, E. Canda, Havva Yazıcı, Burcu Öztürk-Hişmi, F. Bulut, S. Dorum, Abdurrahman Akgun, G. Yalcin-Cakmakli, Gonca Kılıç-Yıldırım, E. Soyuçen, Aylin Akçalı, Dilek Güneş, Aslı Durmuş, Ayşegül Gündüz, C. Kasapkara, Emine Göksoy, H. Akar, Melike Ersoy, Şahin Erdöl, Yılmaz Yıldız, H. Hanağası, N. Arslan   +30 more
semanticscholar   +1 more source

Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil

Clinical Genetics
There are few cerebrotendineous xanthomatosis (CTX) case series and observational studies including a significant number of Latin American patients. We describe a multicenter Brazilian cohort of patients with CTX highlighting their clinical phenotype ...
H. Fussiger, P. L. G. S. B. Lima, P. V. S. Souza, F. Freua, A. Husny, E. E. Leão, P. Braga-Neto, Fernando Kok, David S. Lynch, J. Saute, P. R. Nóbrega   +10 more
semanticscholar   +1 more source

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
openaire   +2 more sources

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
openaire   +2 more sources