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Achilles Tendon Xanthoma and Cholestanol Revealing Cerebrotendinous Xanthomatosis: A New Case Report

机译:Achilles Tenton Xantonoma和胆甾醇揭示脑脑瘤症:新案例报告

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摘要

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease rarely reported in Africa. Therefore, we report a Moroccan first case report of CTX. A 20-year-old woman was presented in our department for bilateral swelling of the posterior aspect of ankles and the anterior aspect knees with gait disturbances evolving since the age of 7. The patient was the first child of consanguineous marriage. She had bilateral cataracts and developmental delay. Laboratory findings revealed that the plasma cholestanol level was remarkably elevated, and plasma and urine bile alcohol levels were elevated. MRI of ankles showed a bilateral diffuse thickening of the Achilles tendon with hypointense in T1 and heterogeneous hypersignal in T2 with spots in hypersignal in T1 and T2. Brain MRI revealed bilateral and symmetrical T2 hypersignal of dentate nuclei, without white matter signal alterations or cerebral or cerebellar atrophy. A biopsy obtained of the Achilles swelling with a histological study showed an aspect of tendon xanthoma. Hence, the diagnosis of CTX was made. MRI, especially brain MRI, plays an important role in the diagnosis of CTX.
机译:脑腱性黄瘤症(CTX)是非洲少有报道的常染色体隐性脂质贮积症。因此,我们报告CTX的摩洛哥首例报告。一个20岁的女人在我们的脚踝的后方面与步态障碍,因为7岁的患者是近亲结婚的第一个孩子发展的前面部分的膝盖双侧肿胀部门提出。她有双侧白内障和发育延迟。实验室研究结果表明,血浆胆甾烷醇水平得到显着升高,和血浆和尿胆醇水平升高。脚踝的MRI显示跟腱与T1低强度和异构高信号在T2与T1和T2高信号点的一个双边弥漫性增厚。脑MRI显示齿状核的双边对称T2高信号,无白质信号改变或脑或小脑萎缩。跟腱与组织学研究的溶胀得到的活检显示腱黄瘤的一个方面。因此,CTX的诊断为。 MRI,特别是与脑MRI,起着CTX的诊断中具有重要的作用。

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