Yasuda T, Hakusui S, Ando T, Yanagi T, Yamamoto M, Sobue G
Department of Neuology, Nagoya Daini Red Cross Hospital, Japan.
No To Shinkei. 1996 Aug;48(8):747-51.
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant neuropathy recently reported to be associated with deletion of the peripheral myelin protein-22 (PMP-22) gene. We report a 39-year-old man with recurrent brachial plexopathy and foot drop complicated by uncontrolled diabetes mellitus (DM). Right foot drop occurred at 31 years of the age and the patient subsequently experienced difficulty in raising his right arm. Neurological examination revealed weakness of the right deltoid, biceps muscles and tibialis anterior muscles. Deep tendon reflexes were generally absent. Sensory nerve conduction velocities in th ulnar, median and sural nerves were prolonged. Serum glucose and HB Alc levels were elevated to 468 mg/dl and 12.5%, respectively. Initially, it was difficult to diagnose the neuropathy as HNPP because the patient had poorly controlled diabetes mellitus and was unaware of similar disease in his family. In addition, focal asymmetric motor neuropathy and good recovery can develop in diabetes mellitus, occasionally with recurrence. We were able to make a final diagnosis of HNPP by detecting deletion of the PMP-22 gene region. After the diagnosis was confirmed, we examined the patient's family and found that his father experienced recurrent episodes of bilateral foot drop. This case suggests that gene analysis is sometimes essential in the differential diagnosis of hereditary peripheral neuropathies.
遗传性压力易感性周围神经病（HNPP）是一种常染色体显性遗传性神经病，最近报道其与外周髓鞘蛋白22（PMP - 22）基因缺失有关。我们报告一名39岁男性，患有复发性臂丛神经病和足下垂，并伴有未得到控制的糖尿病（DM）。患者31岁时出现右足下垂，随后右臂上举困难。神经系统检查发现右三角肌、肱二头肌和胫前肌无力。通常无深腱反射。尺神经、正中神经和腓肠神经的感觉神经传导速度延长。血清葡萄糖和糖化血红蛋白（HB Alc）水平分别升高至468 mg/dl和12.5%。最初，由于患者糖尿病控制不佳且其家族中无类似疾病史，很难将该神经病诊断为HNPP。此外，糖尿病可出现局灶性不对称性运动神经病且恢复良好，偶尔会复发。通过检测PMP - 22基因区域的缺失，我们最终确诊为HNPP。确诊后，我们对患者家族进行了检查，发现其父亲有双侧足下垂反复发作史。该病例表明，基因分析在遗传性周围神经病的鉴别诊断中有时至关重要。
