Results 21 to 30 of about 7,684 (214)
Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis [PDF]
Brain, 1999 We describe seven Dutch patients from six families with a slowly progressive, mainly spinal cord syndrome that remained for many years the sole expression of cerebrotendinous xanthomatosis (CTX). MRI demonstrated white matter abnormalities in the lateral and dorsal columns of the spinal cord.
Verrips, A. +11 more
openaire +3 more sources
Cerebellum & Ataxias, 2021 Cerebrotendinous xanthomatosis (CTX) is a rare but treatable neurometabolic disorder of lipid storage and bile acid synthesis. Whilst CTX is said to present with the classic triad of juvenile onset cataracts, tendon xanthomata and progressive ataxia, the
Mahjabin islam +2 more
semanticscholar +1 more source
Journal of Lipid Research, 2021 Cerebrotendinous xanthomatosis (CTX) is caused by autosomal recessive loss-of-function mutations in CYP27A1, a gene encoding cytochrome p450 oxidase essential for bile acid synthesis, resulting in altered bile acid and lipid metabolism. Here, we aimed to
Philip Höflinger +14 more
semanticscholar +1 more source
Clinical features of «metabolism» diseases of the skin in patients with chronic diffuse liver diseases [PDF]
Терапевтический архив, 2017 Aim. To determine the clinical features of skin diseases developing in the presence of metabolic disturbances in patients with chronic diffuse liver diseases. Subjects and methods. A total of 368 patients with different clinical forms of hepatopathy were
O N Pozdnyakova +3 more
doaj +1 more source
Spinal cerebrotendinous xanthomatosis: A case report and literature review
Molecular Genetics and Metabolism Reports, 2021 Background Classic cerebrotendinous xanthomatosis (CTX; OMIM #213700) manifests with chronic diarrhea, juvenile cataracts, tendon xanthomas and neurological symptoms.
Isis Atallah +5 more
semanticscholar +1 more source
Molecular Therapy: Methods & Clinical Development, 2021 Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disease caused by mutations in the CYP27A1 gene, encoding the sterol 27-hydroxylase. Disruption of the bile acid biosynthesis pathway and accumulation of toxic precursors such as cholestanol ...
S. Lumbreras +12 more
semanticscholar +1 more source
Cerebrotendinous Xanthomatosis: A Clinical Series Illustrating the Radiological Findings
European Medical Journal Neurology, 2023 Cerebrotendinous xanthomatosis is a rare autosomal recessive disorder that occurs due to defective bile acid biosynthesis, causing unusual cholesterol and cholestanol deposition in multiple soft tissues.
Shubham Saini, Neha Bagri
doaj +1 more source
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
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 +5 more
doaj +1 more source
Skin manifestations of secondary dyslipidemia: a case report
Российский кардиологический журнал, 2022 In the presented case report, 27-year-old female patient consulted a dermatologist and a lipidologist due to the appearance of small red spots on the skin. At the stage of examination in the lipid center, the patient was diagnosed with diabetes.
Z. F. Kim +3 more
doaj +1 more source