Department of Diabetes and Endocrinology, Guy's and St Thomas' NHS Trust, London, UK.
Department of Clinical Neurophysiology and Epilepsies, Guy's and St Thomas' NHS Trust, London, UK.
Diabet Med. 2018 Oct;35(10):1457-1459. doi: 10.1111/dme.13701.
Hereditary Neuropathy with liability to Pressure Palsies (HNPP) is an autosomal dominant neuropathy, associated with deletion of the Peripheral Myelin Protein-22 (PMP-22) gene, causing recurrent painless palsies with age of onset between 10 and 30 years old. Only a few cases of Type 2 Diabetes and HNPP have been described and the coexistence of HNPP and Type 1 diabetes has never been reported.
A 54-year old man with a history of Type 1 diabetes, managed with continuous subcutaneous insulin infusion (CSII), presented with deterioration of long-standing motor and sensory symptoms, previously attributed to golfer's elbow, diabetic neuropathy and spinal degenerative disease. He had multilevel severe spine degenerative changes and L4/L5 and L5/S1 root impingements with a L4/L5 discectomy performed when he was 25 years old. On physical examination he had normal power and distal hypoaesthesia of the digits and plantar aspect of the feet. Investigations revealed normal full blood count, liver and renal function, electrolytes, vitamin B12 and serum folate. He suffered from primary hypothyroidism and thyroid function tests indicated adequate levothyroxine replacement. Nerve conduction studies revealed a generalized demyelinating sensorimotor neuropathy, with more severe involvement of nerves over entrapment sites. Further history that his father suffered from episodes of weakness and numbness was elicited. Genetic analysis revealed one copy of the PMP22 gene at 17p11.2 confirming the diagnosis of HNPP.
In people with diabetes the evaluation of peripheral neuropathy should include a careful history, a comprehensive physical examination, blood tests and in some cases nerve conduction studies and genetic testing.
遗传性压力易发性神经病（HNPP）是一种常染色体显性遗传病，与外周髓鞘蛋白 22（PMP-22）基因缺失有关，导致年龄在 10 至 30 岁之间反复发作无痛性瘫痪。仅有少数 2 型糖尿病合并 HNPP 的病例被描述，而 HNPP 合并 1 型糖尿病的共存情况从未被报道过。
一名 54 岁男性，有 1 型糖尿病史，采用持续皮下胰岛素输注（CSII）治疗，出现长期运动和感觉症状恶化，先前归因于高尔夫球肘、糖尿病周围神经病和脊柱退行性疾病。他有多个节段严重的脊柱退行性改变，L4/L5 和 L5/S1 神经根受压，25 岁时曾行 L4/L5 椎间盘切除术。体格检查发现四肢肌力正常，手指和足底远端感觉减退。检查发现全血细胞计数、肝肾功能、电解质、维生素 B12 和血清叶酸正常。他患有原发性甲状腺功能减退症，甲状腺功能检查显示左甲状腺素替代治疗充足。神经传导研究显示广泛的脱髓鞘感觉运动神经病，在受压部位的神经受累更严重。进一步询问病史发现，他的父亲曾有过无力和麻木发作。遗传分析显示 17p11.2 上的 PMP22 基因缺失一个拷贝，确诊为 HNPP。
在糖尿病患者中，周围神经病变的评估应包括详细的病史、全面的体格检查、血液检查，在某些情况下还需要神经传导研究和基因检测。
