Charcot-Marie-Tooth 病中髓鞘蛋白零 p.Ile112Thr 突变导致的传导阻滞和紧张性瞳孔
Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation.
机构信息
Department of Molecular Neuroscience, UCL Institute of Neurology, MRC Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.
出版信息
Neuromuscul Disord. 2011 Mar;21(3):223-6. doi: 10.1016/j.nmd.2010.12.010. Epub 2011 Jan 21.
We report a patient with Charcot-Marie-Tooth disease (CMT) due to the p.Ile112Thr mutation in myelin protein zero (MPZ) who presented with a patchy neuropathy with conduction block and tonic pupils. Conduction block is unusual in inherited neuropathies, while pupil abnormalities are recognised to occur in CMT especially due to MPZ mutations. This case highlights that patchy demyelinating neuropathy with conduction block may occur in p.Ile112Thr MPZ mutations. Involvement of the pupils, as in this case, may be a pointer towards a genetic rather than inflammatory cause of neuropathy.
我们报告了一例由髓鞘蛋白零（MPZ）中的 p.Ile112Thr 突变引起的夏科-马里-图什病（CMT）患者，其表现为局灶性神经病伴传导阻滞和强直性瞳孔。传导阻滞在遗传性神经病中不常见，而瞳孔异常在 CMT 中被认为是由于 MPZ 突变引起的。本例强调了 p.Ile112Thr MPZ 突变可能导致局灶性脱髓鞘神经病伴传导阻滞。如本例所示，瞳孔受累可能提示神经病的病因是遗传而非炎症。
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