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 کاملEruptive Syringoma
Syringoma is a benign adnexal tumor originated from the intraepidermal portion of eccrine sweat duct. They commonly present as soft, flesh colored to slightly yellow dermal papules on the lower eyelids of healthy individuals. It usually occurs in the peri-pubertal period. There are a few reports of its widespread distribution as eruptive syringoma in the literature. Treatment of this benign con...
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 کاملEruptive xanthomas
Xanthomas are localized lipid deposits in the skin, tendons and subcutaneous tissue associated with lipid abnormality. The hyperlipidemia responsible for this disorder can be caused by a primary genetic defect, a secondary disorder, or both. That kind of skin exanthema may be the first signal of cardiovascular risk. We present a 24-year-old woman with a skin eruption that had appeared a few mon...
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ژورنال
عنوان ژورنال: British Journal of Diabetes
سال: 2015
ISSN: 1753-4305,1474-6514
DOI: 10.15277/bjdvd.2015.025