Bamford Nigel S, White Klane K, Robinett Stephanie A, Otto Randolph K, Gospe Sidney M
Department of Neurology, University of Washington, and Seattle Children's Hospital, Seattle, WA 98195, USA.
Dev Med Child Neurol. 2009 May;51(5):408-11. doi: 10.1111/j.1469-8749.2008.03234.x.
Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting 36 in 100,000 people. CMT type 1A (hereditary motor and sensory neuropathy) is the most frequent form of this disease, affecting 60 to 80% of the CMT population, but its diagnosis may be delayed because of inconsistent clinical signs and symptoms and a considerable variability in age at onset. Here, we report on four children (aged 10-17y) who presented with neuromuscular hip dysplasia and other orthopedic abnormalities but were only later diagnosed with CMT 1A. Hip dysplasia may be the initial clinical sign in CMT, so children with late-manifesting hip disease (i.e. age >8y) should be examined for signs of peripheral neuropathy, particularly when presenting with a 'waddling' or broad-based gait.
夏科-马里-图斯病（CMT）是最常见的遗传性神经疾病之一，每10万人中有36人患病。CMT 1A型（遗传性运动和感觉神经病）是该病最常见的形式，影响60%至80%的CMT患者，但由于临床体征和症状不一致以及发病年龄差异较大，其诊断可能会延迟。在此，我们报告了4名儿童（年龄在10 - 17岁），他们最初表现为神经肌肉性髋关节发育不良和其他骨科异常，但后来才被诊断为CMT 1A型。髋关节发育不良可能是CMT的初始临床体征，因此对于患有迟发性髋关节疾病（即年龄>8岁）的儿童，应检查是否有周围神经病变的体征，尤其是当出现“摇摆”或宽基步态时。
