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Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment.
Front Neurol
December 2022
Division of Neurology, Department of Clinical Medicine, Federal University of Ceará, Fortaleza, Brazil.
Cerebrotendinous Xanthomatosis represents a rare and underdiagnosed inherited neurometabolic disorder due to homozygous or compound heterozygous variants involving the gene. This bile acid metabolism disorder represents a key potentially treatable neurogenetic condition due to the wide spectrum of neurological presentations in which it most commonly occurs. Cerebellar ataxia, peripheral neuropathy, spastic paraparesis, epilepsy, parkinsonism, cognitive decline, intellectual disability, and neuropsychiatric disturbances represent some of the most common neurological signs observed in this condition.
View Article and Find Full Text PDFCerebrotendinous xanthomatosis and infertility: A case report.
Clin Case Rep
December 2022
Department of Neurology, Shariati Hospital Tehran University of Medical Sciences Tehran Iran.
Cerebrotendinous xanthomatosis (CTX) is a lipid storage disorder that causes neurological, ophthalmic, vascular, and musculoskeletal disorders due to the deposition of cholesterol in the tissues. Hence, we report clinical and imaging of a 31-year-old mentally retarded man with cerebellar ataxia, bilateral swelling of the posterior aspect of Achill, and infertility.
View Article and Find Full Text PDFProspective Registry Study of Primary Dyslipidemia (PROLIPID): Rationale and Study Design.
J Atheroscler Thromb
June 2022
Division of Endocrinology and Metabolism, Department of Internal Medicine, School of Medicine, Jichi Medical University.
Introduction: Primary dyslipidemias are inherited disorders in plasma lipoprotein metabolism that lead to serious cardiovascular and other complications. The Japanese Ministry of Health, Labor and Welfare (MHLW) covers medical expenses, under the Research Program on Rare and Intractable Diseases, for homozygous familial hypercholesterolemia (FH), familial chylomicronemia, sitosterolemia, cerebrotendinous xanthomatosis, lecithin:cholesterol acyltransferase deficiency, Tangier disease, and abetalipoproteinemia. Apolipoprotein A1 deficiency, heterozygous FH, and type III hyperlipoproteinemia are covered by the MHLW Pediatric Chronic Disease Program.
View Article and Find Full Text PDFAchilles Tendon Xanthoma and Cholestanol Revealing Cerebrotendinous Xanthomatosis: A New Case Report.
Case Rep Rheumatol
May 2021
Rheumatology Department, Military Hospital Mohammed V, Mohammed V University, Rabat, Morocco.
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease rarely reported in Africa. Therefore, we report a Moroccan first case report of CTX. A 20-year-old woman was presented in our department for bilateral swelling of the posterior aspect of ankles and the anterior aspect knees with gait disturbances evolving since the age of 7.
View Article and Find Full Text PDFAn update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Expert Rev Neurother
January 2020
Myelin Disorders Clinic, Department of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
: Leukodystrophies constitute heterogenous group of rare heritable disorders primarily affecting the white matter of central nervous system. These conditions are often under-appreciated among physicians. The first clinical manifestations of leukodystrophies are often nonspecific and can occur in different ages from neonatal to late adulthood periods.
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