Beydoun Said R, Cho Justin
Neuromuscular Division, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
J Clin Neuromuscul Dis. 2013 Sep;15(1):28-33. doi: 10.1097/CND.0b013e31829e22fe.
Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited autosomal dominant disorder that causes a polyneuropathy with predisposition for involvement at sites of compression and is often underdiagnosed or misdiagnosed due to its heterogeneity in clinical and electrophysiological presentation. We report 2 cases of HNPP, which were initially diagnosed and treated as either an acquired demyelinating disorder or alternative inherited demyelinating disorder. Thorough evaluation of repeat electrodiagnostic studies and genetic testing confirmed the diagnosis of HNPP in both cases. One case showed the classic peripheral myelin protein 22 (PMP22) deletion and the other case showed a previously reported single base pair deletion at Leu145 causing a frameshift mutation at the PMP22 gene. These cases underscore the difficulty of diagnosing HNPP, because of the variations in clinical and electrophysiological findings and reinforce the importance of a combination high index of clinical suspicion, electrodiagnostic testing, and genetic testing to make the diagnosis.
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疾病，可导致多神经病，易在受压部位受累，且由于其临床和电生理表现的异质性，常被漏诊或误诊。我们报告2例HNPP，最初被诊断并当作获得性脱髓鞘疾病或其他遗传性脱髓鞘疾病进行治疗。对重复电诊断研究和基因检测的全面评估证实两例均为HNPP。1例显示典型的外周髓鞘蛋白22（PMP22）缺失，另1例显示先前报道的Leu145单碱基对缺失，导致PMP22基因移码突变。这些病例凸显了HNPP诊断的困难，因其临床和电生理表现存在差异，并强化了临床高度怀疑、电诊断检测和基因检测相结合以做出诊断的重要性。
