Cerebrotendinous Xanthomatosis: Literally an Orphan Disease in Brazil: Case Report
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چکیده
منابع مشابه
Cerebrotendinous Xanthomatosis - A Case Report of Two Siblings -
= Abstract =Cerebrotendinous xanthomatosis(CTX), a rare lipid storage disease with diverse neurologic manifestations has, to our knowledge, never been reported in Korea, The authors recently saw two Korean brothers with typical CTX. In the elder one, the clinical presentation included childhood epilepsy, dementia, cataracts, spastic ataxia, and multiple tendon tumefaction in chronological order...
متن کاملCerebrotendinous xanthomatosis: report of two Brazilian brothers.
Cerebrotendinous xanthomatosis is a treatable rare autossomal recessive disease characterized by lipid storage secondary to a sterol 27-hydroxylase deficiency in the formation of cholic and chenodeoxycholic acids. We describe two Brazilian brothers with cognitive impairement and chronic diarrhea. One of them also presents bilateral cataracts. Neurological findings were progressive walking defic...
متن کاملCerebrotendinous xanthomatosis: clinical and MRI study (a case report).
We report a patient with cerebrotendinous xanthomatosis (CTX) presenting with dementia, spastic tetraparesis and an unreported akinetic-rigid syndrome. Computed tomography (CT) showed only cerebellar abnormalities while magnetic resonance imaging (MRI) detected additional pallidal and mesencephalic focal alterations. MRI findings, but not CT, correlated with the clinical picture.
متن کاملCerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report
BACKGROUND Cerebrotendinous xanthomatosis is a very rare autosomal recessive lipid storage disorder affecting bile acid biosynthesis. It is manifested by subtle neurological and non-neurological symptoms due to abnormal tissue lipid deposition. Diagnosis is usually delayed but early diagnosis and replacement therapy can prevent devastating neurological sequelae. CASE PRESENTATION We present a...
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...
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ژورنال
عنوان ژورنال: Journal of Neurodegenerative Disorders
سال: 2017
ISSN: 2642-4274
DOI: 10.36959/459/593