Cerebrotendinous xanthomatosis: A moroccan case report and review of literature
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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: 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 کاملBilateral Xanthomas of Tendoachilles in A Patient of Cerebrotendinous Xanthomatosis - A Rare Case Report and Review of Literature
INTRODUCTION Cerebrotendinous xanthomatosis is a very rare disorder of cholesterol metabolism with autosomal recessive inheritance. It can present to the out-patient clinics of orthopaedic department with painful and swollen tendoachilles on one or both sides. It is commonly mistaken for a local disorder and excision may be recommended without realizing its systemic nature. CASE REPORT We fin...
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: 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...
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ژورنال
عنوان ژورنال: Annals of Indian Academy of Neurology
سال: 2021
ISSN: 0972-2327
DOI: 10.4103/aian.aian_1189_20