Results 21 to 30 of about 6,190 (205)

Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment

Frontiers in Neurology, 2022
Cerebrotendinous Xanthomatosis represents a rare and underdiagnosed inherited neurometabolic disorder due to homozygous or compound heterozygous variants involving the CYP27A1 gene.
Paulo Ribeiro Nóbrega, Paulo Ribeiro Nóbrega, Anderson Moura Bernardes, Rodrigo Mariano Ribeiro, Sophia Costa Vasconcelos, David Augusto Batista Sá Araújo, Vitor Carneiro de Vasconcelos Gama, Helena Fussiger, Helena Fussiger, Carolina de Figueiredo Santos, Carolina de Figueiredo Santos, Daniel Aguiar Dias, André Luíz Santos Pessoa, André Luíz Santos Pessoa, Wladimir Bocca Vieira de Rezende Pinto, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Paulo Victor Sgobbi de Souza, Pedro Braga-Neto, Pedro Braga-Neto   +20 more
doaj   +2 more sources

Cerebrotendinous xanthomatosis - A case report

Indian Journal of Radiology and Imaging, 2019
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder resulting from a defective enzyme in bile acid synthesis pathway leading to neurological, ocular, vascular, and musculoskeletal symptoms from deposition of cholestanol and ...
Arshed Hussain Parry, Abdul Haseeb Wani, Muiez Bashir, Tariq A Gojwari   +3 more
doaj   +2 more sources

Normal cholestanol in a genetically confirmed cerebrotendious xanthomatosis case presenting as neonatal jaundice. [PDF]

JPGN Rep
Abstract Cerebrotendinous xanthomatosis (CTX) is a treatable genetic disorder associated with deficiency of the sterol 27‐hydroxylase enzyme (CYP27A1), important in bile acid synthesis. CTX may present in the newborn period as hepatic jaundice/cholestasis, that can resolve or can progress to fatal liver disease.
DeBarber AE, Fowler M, Barton Duell P, Dybbro E.   +3 more
europepmc   +2 more sources

Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis. [PDF]

Muscle Nerve
ABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Camelo-Filho AE, Lima PLGSB, Soares TBS, da Rosa RF, Furtado LETA, Moreira AL, Pessoa ALS, Nóbrega PR, Braga-Neto P.   +8 more
europepmc   +2 more sources

Safety and Effectiveness of Pharmacy Compounded Chenodeoxycholic Acid Capsules for Patients With Cerebrotendinous Xanthomatosis. [PDF]

J Inherit Metab Dis
ABSTRACT Chenodeoxycholic acid (CDCA) is an essential drug for patients with rare metabolic disease cerebrotendinous xanthomatosis (CTX). To ensure continuation of treatment, the Amsterdam UMC hospital pharmacy developed pharmacy compounded CDCA capsules when the authorized CDCA capsules were no longer available for Dutch patients.
Bouwhuis N, Majait S, Polak Y, de Jong A, Jacobs BAW, Vaz FM, Leen WG, Kemper EM, Swart EL, Hollak CEM.   +9 more
europepmc   +2 more sources

FDA Approves First Targeted Treatment for Cerebrotendinous Xanthomatosis: A Perspective on a Landmark in Rare Lipid Storage Disease Therapy. [PDF]

Health Sci Rep
ABSTRACT Background and Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by mutations in the CYP27A1 gene, leading to deficient sterol 27‐hydroxylase activity. This enzyme is critical for bile acid synthesis, and its dysfunction results in reduced chenodeoxycholic acid (CDCA) levels and subsequent accumulation of ...
Jalal L, Basaria AAA, Yokolo H.
europepmc   +2 more sources

Maralixibat for the treatment of severe xanthomas in two children with Alagille syndrome: Case reports. [PDF]

JPGN Rep
Abstract Alagille syndrome (ALGS) is a rare, autosomal dominant disorder which presents with a broad range of clinical manifestations, including cholestatic pruritus. A unique manifestation of ALGS is the presence of xanthomas in 24%–42% of patients, which can lead to liver transplantation.
Bora G, Quiros-Tejeira RE, Vitola B.
europepmc   +2 more sources

An unusual Erdheim–Chester disease with bilateral orbital involvement and diabetes insipidus: a case report

Delta Journal of Ophthalmology, 2018
Case report A 39-year-old man presented with proptosis, disk edema, and extraocular muscle restrictions. He was suspected of having systemic lymphoma and had already been submitted to retroperitoneal biopsy; however, the diagnosis was still uncertain ...
Mohamed A.I Eldesouky
doaj   +1 more source

Gastric Xanthelasma, Xanthoma, and Xanthomatosis [PDF]

, 2014
BackgroundXanthelasma is a yellowish deposit of cholesterol underneath the skin, usually on or around the eyelids, which is associated with hyperlipidemia.
Feriyl Bhaijee, Bhaijee, Feriyl, Shou-jiang Tang, Wu, Ruonan, Ruonan Wu, Tang, Shou-jiang   +5 more
core   +1 more source

Achilles swelling and ataxia in an adolescent: A case report of cerebrotendinous xanthomatosis

Radiology Case Reports, 2022
Cerebrotendinous xanthomatosis (CTX) is a rare hereditary disease characterized by a bile acid metabolic problem that causes cholesterol metabolites to accumulate in various organs. There are 2 types of CTX: traditional and spinal.
Hind Sahli, MD, Jihane El. Mandour, MD, Jihad Boularab, MD, Issam En-nafaa, PhD,MD, Jamal El. Fenni, PhD,MD, Aziz Hommadi, PhD,MD   +5 more
doaj   +1 more source