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首页> 外文期刊>Case Reports in Genetics >Hereditary Neuropathy with Liability to Pressure Palsies Masked by Previous Gunshots and Tuberculosis
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Hereditary Neuropathy with Liability to Pressure Palsies Masked by Previous Gunshots and Tuberculosis

机译：遗传性神经病对以前的枪击和肺结核掩盖的压力性麻痹有责任

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Objectives.Although hereditary neuropathy with liability to pressure palsies (HNPP) presents with a distinct phenotype on history, clinical exam, and nerve conduction studies, it may be masked if diagnostic work-up suggests other causes.Case Report.In a 37-year-old male with pseudoradicular lumbar pain, neurological exam revealed sore neck muscles, peripheral facial nerve palsy, right anacusis and left hypoacusis, hemihypesthesia of the right face, mild distal quadriparesis, diffuse wasting, and generally reduced tendon reflexes. He had a history of skull fracture due to a gunshot behind the right ear and tuberculosis for which he had received adequate treatment for 3 years; MRI revealed a disc prolapse at C6/7 and Th11/12. Nerve conduction studies were indicative of demyelinating polyneuropathy with conduction blocks. Despite elevated antinuclear antibodies and elevated CSF-protein, HNPP was diagnosed genetically after having excluded vasculitis, CIDP, radiculopathy, and the side effects of antituberculous treatment.Conclusions.HNPP may manifest with mild, painless, distal quadriparesis. The diagnosis of HNPP may be blurred by a history of tuberculosis, tuberculostatic treatment, hepatitis, and the presence of elevated CSF-protein.
机译：目的：尽管对压力性麻痹（HNPP）负有责任的遗传性神经病在病史，临床检查和神经传导研究中表现出明显的表型，但如果诊断性检查提示其他原因可能会掩盖这种情况。病例报告.37年男性，患有伪神经根性腰椎痛，神经系统检查显示颈部肌肉酸痛，周围面神经麻痹，右耳无听觉和左眼听觉减退，右脸偏瘫，轻度远侧四肢瘫痪，弥漫性消瘦，通常腱反射减弱。由于右耳后部有枪击和结核病，他有颅骨骨折的病史，并已接受了三年的充分治疗。 MRI显示C6 / 7和Th11 / 12椎间盘脱出。神经传导研究提示有传导阻滞的脱髓鞘性多神经病。尽管抗核抗体和脑脊液蛋白水平升高，但在排除血管炎，CIDP，神经根病和抗结核治疗的副作用后，仍通过遗传学方法诊断出HNPP。结论.HNPP可能表现为轻度，无痛，远端四肢瘫痪。 HNPP的诊断可能因结核病史，抗结核治疗，肝炎和CSF蛋白升高而变得模糊。

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