Results 11 to 20 of about 6,190 (205)
Small Bowel Obstruction due to Intestinal Xanthomatosis [PDF]
Case Reports in Pathology, 2015 Vast majority of bowel obstruction is due to postoperative adhesions, malignancy, intestinal inflammatory disease, and hernias; however, knowledge of other uncommon causes is critical to establish a prompt treatment and decrease mortality.
L. E. Barrera-Herrera +3 more
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A rare metabolic disease: cerebrotendinous xanthomatosis
Van Tıp Dergisi, 2019 Cerebrotendinous xanthomatosis is a rare autosomal recessive disorder. It occurs as a mutation in the CYP27A1 gene with nine exons in the Long arm of chromosome 2.
Tülay Kamaşak +6 more
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2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis [PDF]
BMC Neurology, 2011 Background Cerebrotendinous xanthomatosis (CTX) is a rare lipid-storage disease. We investigated the clinic manifestation, histopathology and sterol 27-hydroxylase gene (CYP27A1) in a Chinese family with Cerebrotendinous Xanthomatosis (CTX).
Tian Di, Zhang Zai-qiang
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Case Report: Cerebrotendinous xanthomatosis
Indian Journal of Radiology and Imaging, 2009 Cerebrotendinous xanthomatosis is a rare genetic disorder. We present and discuss the clinical, radiological, and histopathologic findings in a 36-year-old woman who had juvenile cataract, childhood diarrhea, mental retardation, cerebellar ataxia, and ...
Karandikar Amit +3 more
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Bilateral xanthomas of tendoachilles in a patient of cerebro-tendinous xanthomatosis: A case report
Journal of Dr. NTR University of Health Sciences, 2016 Cerebro-tendinous xanthomatosis is a very rare autosomal recessive disorder. An 18-year-old male presented to us with swellings of both tendoachilles, proved to be xanthomas. The diagnosis was confirmed by biochemical, clinical, and radiological studies.
Vutukuru Sri Ravindranath +3 more
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Severe hypertriglyceridemia presenting as eruptive xanthomatosis
Journal of Family Medicine and Primary Care, 2018 Eruptive xanthomatosis is described as the sudden eruption of erythematous yellow papules in the presence of hypertriglyceridemia, often associated with serum triglyceride levels above 2000 mg/dl.
Sameera S Vangara +3 more
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Molecular Genetics and Metabolism Reports, 2015 Cerebrotendinous xanthomatosis is a lipid storage disease characterized by diarrhea, cataract, tendon xanthoma and neurological regression if untreated. CYP27A1 is the only gene in which mutations are known to cause Cerebrotendinous xanthomatosis.
Atanu Kumar Dutta +8 more
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Cerebrotendinous xanthomatosis and infertility: A case report
Clinical Case Reports, 2022 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.
Narges Karimi +3 more
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Cerebrotendinous Xanthomatosis In A Family
Indian Journal of Dermatology, 1999 A family consisting of a brother (11 years) and his twin sisters (13 years) with cerebrotendinous xanthomatosis is presented. The brother had bilateral achilles tendon xanthoma, low intelligence, poor memory with early cerebellar signs.
Chatterjee Gobinda +3 more
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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
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