Familiar Hypercholesterolemic Xanthomatosis
نویسندگان
چکیده
منابع مشابه
Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis.
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. Post-mortem examination of one of the patients showed extensive myelin loss in these columns. An array ...
متن کاملCerebrotendinous xanthomatosis
Cerebrotendinous Xanthomatosis (CTX; OMIM #213700) is a rare lipid storage metabolic disease with autosomal recessive inheritance. It is characterized by deficiency of mitochondrial sterol 27-hydroxylase (CYP27) which is a key enzyme in bile acid biosynthesis. The enzyme converts cholesterol into bile acids hence deficiency results in abnormal deposition of cholesterol and cholestenol in multip...
متن کاملCerebrotendinous xanthomatosis.
Cerebrotendinous xanthomatosis is a rare genetic metabolic disorder of cholesterol and bile acid metabolism that results in systemic and neurologic abnormalities. Typically, the disease begins in infancy with chronic diarrhoea. Cataracts become evident in childhood or adolescence, and xanthomata develop in the second and third decades of life. Significant neurologic impairment also occurs; this...
متن کاملCerebrotendinous xanthomatosis
Cerebrotendinous Xanthomatosis (CTX; OMIM #213700) is a rare lipid storage metabolic disease with autosomal recessive inheritance. It is characterized by deficiency of mitochondrial sterol 27-hydroxylase (CYP27) which is a key enzyme in bile acid biosynthesis. The enzyme converts cholesterol into bile acids hence deficiency results in abnormal deposition of cholesterol and cholestenol in multip...
متن کاملA massive gastric xanthomatosis.
are incidental lesions rarely encountered during upper gastrointestinal endoscopy. We report a case of gastric xanthomatosis in a 49-year-old asymptomatic woman affected by pulmonary B-cell lymphoma. She underwent esophagogastroduodenoscopy to stage her lymphoproliferative disease. The previous medical history was unremarkable, blood chemistry was normal, and she was not receiving any medicatio...
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ژورنال
عنوان ژورنال: Japanese Circulation Journal
سال: 1963
ISSN: 0047-1828,1347-4839
DOI: 10.1253/jcj.27.655