Fleming Jason, Quan Dianna
Department of Neurology, University of Colorado Denver, Aurora, CO, USA.
Department of Neurology, University of Colorado Denver, Aurora, CO, USA.
Neuromuscul Disord. 2016 Dec;26(12):841-843. doi: 10.1016/j.nmd.2016.09.013. Epub 2016 Sep 16.
We present a patient with congenital spinal muscular atrophy associated with pain, subjective sensory loss, right talipes equinovarus, delayed walking, and progressive gait impairment. A sister and niece reportedly had Charcot-Marie-Tooth 1A, but the patient's electromyogram showed an axonal motor neuropathy or neuronopathy. We identified a c.806G>A TRPV4 gene mutation causing an Arg269His amino acid substitution. TRPV4 mutations cause variable phenotypes including axonal sensorimotor neuropathy and motor neuropathy or neuronopathy. Associated features may include arthrogryposis, skeletal dysplasia, vocal cord paresis, sensorineural hearing loss and respiratory weakness. Skeletal X-rays can identify orthopedic causes of pain in patients with TRPV4 mutations, and imaging evidence of bone deformities in patients with suspected hereditary axonal neuropathy, pain and an unknown genetic diagnosis may help lead to a diagnosis of a TRPV4 mutation. Even when a patient's genetic diagnosis is presumed to be known, electrodiagnostic testing is warranted to verify the diagnosis.
我们报告了一名患有先天性脊髓性肌萎缩症的患者，伴有疼痛、主观感觉丧失、右马蹄内翻足、行走延迟和进行性步态障碍。据报道，患者的一个姐姐和侄女患有1A型遗传性运动感觉神经病，但该患者的肌电图显示为轴索性运动神经病或神经元病。我们鉴定出一个c.806G>A的TRPV4基因突变，该突变导致精氨酸269被组氨酸取代。TRPV4基因突变会导致多种表型，包括轴索性感觉运动神经病和运动神经病或神经元病。相关特征可能包括关节挛缩、骨骼发育异常、声带麻痹、感音神经性听力损失和呼吸肌无力。骨骼X线检查可以识别TRPV4基因突变患者疼痛的骨科原因，对于疑似遗传性轴索性神经病、疼痛且基因诊断不明的患者，骨骼畸形的影像学证据可能有助于诊断TRPV4基因突变。即使患者的基因诊断被认为已知，也需要进行电诊断测试以验证诊断。
