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A Rare Form of Lipid Metabolic Encephalopathy.
JAMA Neurology ( IF 29.0 ) Pub Date : 2020-01-01 , DOI: 10.1001/jamaneurol.2019.3551
Qian Qian 1, 2 , Du Cao 1, 2 , You-Dong Wei 1, 2
Affiliation  

A 27-year-old Asian man was found with painless masses of about 5.1 cm in diameter that appeared on both Achilles tendons 10 years ago. Two years prior, he had no obvious inducement and gradually developed indifference, glassy eyes, lethargy, and poor memory. One year prior, the patient’s personality changed dramatically, with notably decreased memory formation but intact short-term memory. He was short-tempered, irritable, hyperactive, and exhibited slight balance instability while walking. On admission, physical examination showed unstable balance while walking in a straight line, positive ankle clonus bilaterally, positive Babinski sign bilaterally, positive Chaddock sign bilaterally, positive Romberg sign, and painless lumps of about 8.2 cm in diameter in both Achilles tendons. Routine laboratory test results showed that the patient’s triglyceride level was elevated at 342.48 mg/dL (to convert to millimoles per liter, multiply by 0.0013 mg/dL; normal levels are considered to be 30.97-150.44 mg/dL). A brain magnetic resonance imaging (MRI) indicated multiple bilateral, symmetric abnormal signals in the genus of the internal capsules, posterior limbs of internal capsules, cerebral peduncles, pons, and cerebellar dentate nuclei (Figure, A). Genetic testing indicated a known pathogenic mutation c.1214G>A (p.Arg405Gln; Hom) in the CYP27A1 gene. An MRI of the ankle joints revealed an enlargement of the left Achilles tendon with abnormal signal, and the right Achilles tendon was circumscribed by a fusiform enlargement with abnormal signal (Figure, B).



中文翻译:

罕见的脂质代谢性脑病。

发现一名27岁的亚洲男子,其直径约5.1厘米的无痛肿块出现在10年前的两个跟腱上。两年前,他没有明显的诱因,并逐渐发展为冷漠,眼白,嗜睡和记忆力减退。一年前,患者的性格发生了巨大变化,记忆形成明显减少,但短期记忆却完整无缺。他脾气暴躁,易怒,活动过度,走路时表现出轻微的平衡不稳。入院时,体格检查显示直线行走时平衡不稳定,双侧踝关节正支,双正Babinski征,双正Chaddock正,双Romberg正,跟腱均直径约8.2 cm的无痛团块。常规实验室测试结果表明,患者的甘油三酸酯水平提高到342.48 mg / dL(转换为毫摩尔/升,乘以0.0013 mg / dL;正常水平被认为是30.97-150.44 mg / dL)。脑磁共振成像(MRI)表示内囊属,内囊后肢,脑柄,脑桥和小脑齿状核中存在多个双侧对称异常信号(图A)。遗传检测表明在猪笼草中有一个已知的致病性突变c.1214G> A(p.Arg405Gln; Hom)。内囊,四指,脑桥,小脑和小脑齿状核的后肢(图A)。遗传检测表明在猪笼草中有一个已知的致病性突变c.1214G> A(p.Arg405Gln; Hom)。内囊,四指,脑桥,小脑和小脑齿状核的后肢(图A)。遗传检测表明在猪笼草中有一个已知的致病性突变c.1214G> A(p.Arg405Gln; Hom)。CYP27A1基因。脚踝关节的MRI显示信号异常的左跟腱增大,信号异常的梭形增大限制了右跟腱(图B)。

更新日期:2020-01-13
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