Cerebrotendinous xanthomatosis: a literature review and case study [PDF]
Frontiers in Cardiovascular MedicineCerebrotendinous xanthomatosis (CTX) is a rare but treatable inherited neurometabolic disorder that can lead to severe sequelae if left untreated. Chenodeoxycholic acid is a safe and effective treatment for CTX.
Matta Anthony, Levade Thierry
exaly +4 more sources
Heterozygous CYP27A1 gene mutation presenting with Achilles tendon xanthoma: a case report [PDF]
Journal of Medical Case ReportsBackground Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disorder involving bile acid biosynthesis. Reduced mitochondrial cytochrome P450 enzyme activity leads to abnormal lipid accumulation in various tissues, especially ...
Yushi Oyama +5 more
doaj +2 more sources
Clinical features and genetic analysis of a Brazilian patient with sitosterolemia: a case report [PDF]
Archives of Endocrinology and MetabolismSitosterolemia is a rare genetic lipid disorder caused by mutations in the ABCG5/ABCG8, genes. It is characterized by plasmatic plant sterols accumulation, formation of tendon and tuberous xanthomas and early onset coronary artery disease.
Felipe Augusto Azevedo Leão +3 more
doaj +2 more sources
Systematic Review of Parkinsonism in Cerebrotendinous Xanthomatosis [PDF]
Neurology InternationalBackground: Cerebrotendinous Xanthomatosis (CTX) is a rare, inherited metabolic disease caused by pathogenic variants in CYP27A1. The clinical presentation of this progressive disease includes cognitive deficits, ataxia, peripheral neuropathy, and ...
Jennifer Hanson, Penelope E. Bonnen
doaj +2 more sources
Case report: Cerebrotendinous xanthomatosis treatment follow-up [PDF]
Frontiers in NeurologyXanthomatosis is a genetic disease inherited in an autosomal recessive manner. The specific phenotypic features are associated with patient’s genetic profile.
Karolina Ejsmont-Sowała +9 more
doaj +2 more sources
An Ultra-Rare Disorder: Case Report on Cerebrotendinous Xanthomatosis [PDF]
ReportsBackground and Clinical Significance: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by mutations in the CYP27A1 gene, leading to impaired bile acid synthesis and systemic cholesterol deposition. The condition presents
Mariya Levkova +4 more
doaj +2 more sources
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
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
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 +20 more
doaj +1 more source
Cerebrotendinous Xanthomatosis: A Reversible Rarity if Caught on Time [PDF]
Indian Dermatology Online JournalParag Suresh +3 more
doaj +2 more sources