Venkatraman Chandramouleeswaran, Subramanian Shubha, Abraham Daniel Sweetson, Vellaichamy Kannan
Institute of Neurology, Madras Medical College, Chennai, Tamil Nadu, India.
Ann Indian Acad Neurol. 2018 Jan-Mar;21(1):74-76. doi: 10.4103/aian.AIAN_416_17.
We report an unusual presentation in a 9-year-old girl with unilateral circumferential thinning of the entire right upper limb without any other neurological deficit, with normal nerve conduction and electromyography initially thought of as a neurodegenerative disorder based on clinical presentation. Magnetic resonance imaging of the upper limb showed partial lipoatrophy with normal glucose metabolism and lipid profile and negativity for HIV and autoimmune disease (panniculitis) with no family history of similar disorder. Remember to think out of box before labeling neurodegenerative disease.
我们报告了一名9岁女孩的罕见病例，其右上肢整体出现单侧环形变薄，无任何其他神经功能缺损，神经传导和肌电图检查正常，最初根据临床表现认为是一种神经退行性疾病。上肢磁共振成像显示部分脂肪萎缩，葡萄糖代谢和血脂谱正常，HIV和自身免疫性疾病（脂膜炎）检测为阴性，且无类似疾病家族史。在诊断神经退行性疾病之前，请记得跳出框框思考。
