平山病华山诊断标准与临床分型

The Huashan diagnostic criteria and clinical classification of Hirayama disease

目的建立平山病的华山诊断标准以及临床分型系统。方法对2007年9月至2018年8月期间我院收治的青春期起病、以上肢肌肉萎缩为主要临床表现,且具有完整临床资料359例临床病例进行回顾性分析。该组病例男性348例,女性11例(男∶女为31.6∶1),起病年龄平均(16.7±2.2)岁,就诊年龄平均(19.2±4.5)岁,病程平均(29.3±45.4)个月。对患者的临床表现、影像学表现及神经电生理检查结果进行描述性分析,将其中100%出现或符合的指标纳入临床诊断标准,以此提出平山病华山临床诊断标准。进一步根据临床表现中肌肉萎缩累及上肢单或双侧,是否出现四肢腱反射活跃或亢进、Babinski征阳性等锥体束受损表现,是否伴有上肢麻木等感觉功能障碍,肌肉萎缩发生部位,及6个月内患者临床表现和(或)神经电生理检查结果是否进展等提出平山病华山临床分型系统。再自上述359例患者中随机选取30例,由未参与该分型系统制定的4名骨科医生在规定时间内完成临床分型,分型结果采用一致性检验(计算Kappa值)进行可信度评价。结果平山病华山诊断标准包含临床表现、影像学检查及神经电生理检查三个方面。主要诊断指标为:①青春期隐匿性起病,男性多见;②以上肢局限性肌肉萎缩、肌无力为主要表现;③与颈椎中立位MRI相比,屈颈位MRI显示下颈段脊髓明显前移、脊髓前间隙变窄或消失;④屈颈位MRIT2加权像示脊髓后方“膜-壁分离”现象;⑤神经电生理检查显示受累肌肉均为神经源性损害;⑥受累部位均局限于中下颈段、呈节段性表现。同时需结合影像学及神经电生理表现与颈椎病伴上肢肌萎缩、运动神经元病等进行鉴别诊断。华山临床分型系统将平山病分为Ⅰ~Ⅲ型。Ⅰ型:占72.1%,单侧上肢或一侧上肢为主的手内在肌和前臂肌肉萎缩。再根据近6个月内症状、体征或电生理检查是否进展分为2个亚型:Ia亚型即稳定期,建议定期随访评估,如病情进展建议佩戴颈围制动,必要时行手术治疗;Ib亚型即进展期,建议颈围制动,定期随访评估,如无法坚持长时间佩戴颈围,建议手术治疗。Ⅱ型:占14.2%,单侧上肢或一侧上肢为主的手内在肌和前臂肌肉萎缩伴锥体束损伤表现,建议手术治疗。Ⅲ型:占13.7%,不典型平山病,包括上肢近端肌萎缩、对称性双上肢肌肉萎缩,以及伴上肢麻木等感觉障碍,建议颈围制动,密切随访评估,必要时手术治疗。可信度评价显示Kappa值平均为0.732(0.688~0.834),属于基本可信程度。结论平山病华山诊断标准有利于实现早期诊断,临床分型系统有较好的可信度及良好的干预指导价值。

Objective To establish Huashan diagnostic criteria and clinical classification system for Hirayama disease.Methods Retrospective analysis 359 cases of puberty onset,upper extremity muscle atrophy as main clinical manifestations,and complete clinical data from September 2007 to August 2018.There were 348 males and 11 females(31.6∶1 male and female)in this group.The average age of onset was 16.7±2.2 years,the average age of visits was 19.2±4.5 years,and the average duration of treatment was 29.3±45.4 months.Descriptive study of the clinical manifestations,radiologic and neurophysiological findings of this group of patients,the Huashan clinical diagnostic criteria of Hirayama disease were established by including 100%of the clinical manifestations,imaging and neurophysiological findings.According to the following parameters,the clinical classification system of Hirayama disease was proposed.The parameters specifically included:the muscle atrophy involves the upper limbs,whether the quadriplegia was active or hyperactive,the Babinski sign positive and other pyramidal tract damage,whether it was accompanied by sensory dysfunction such as upper limb numbness,muscle atrophy location,and the progress of clinical symptoms or electrophysiological examination within 6 months.Thirty patients were randomly selected from the above 359 cases.Four orthopedic surgeons who were not involved in the classification system completed the clinical classification within the specified time.The Kappa value was used for the credibility evaluation.Results The Huashan diagnostic criteria of Hirayama disease included clinical manifestations,imaging examinations and neurophysiological examinations.The main diagnostic indicators were:1)occult onset puberty,more common in men;2)localized muscle atrophy and weakness in the upper extremities;3)compared with the cervical neutral MRI,the MRI of cervical flexion showed that spinal cord was significantly shift forward and the anterior spinal cord was narrowed or disappeared.4)MRI T2 weighting of the cervical flexion showed cyst-wall separation behind the spinal cord;5)Neurophysiological examination showed that the affected muscles were neurogenic damage.6)The affected parts are limited to the middle and lower neck segment.At the same time,it was necessary to combine imaging and neurophysiological manifestations to distinguish cervical spondylosis with upper limb muscle atrophy and motor neuron disease.According to the clinical characteristics of different patients,Hirayama disease can be divided into type I-III.Type I:72.1%,one-sided upper limb or one upper limb-based hand inner muscle and forearm muscle atrophy.According to whether progress of symptoms or electrophysiological examination was seen in the past 6 months,type I can be divided into:Ia.stable period.Regular follow-up assessment was recommended.If the disease progressed,to wear a cervical collar was suggested;surgery could be done if necessary;Ib.progression period,it was recommended to use a cervical collar,and regularly evaluate.if patients could not wear cervical collar for long,it was recommended to operate.Type II:14.2%,unilateral upper limb or one upper limb-based hand inner muscle and forearm muscle atrophy with pyramidal tract injury.Surgery was recommended.Type II:13.7%,atypical Hirayama disease,including upper limb proximal muscle atrophy,symmetrical double upper limb muscle atrophy,and sensory disturbances associated with upper limb numbness.Wear a cervical collar,and follow-up and assess closely,and choose surgical treatment if necessary.The credibility evaluation showed that the average Kappa value of the classification was 0.732(0.688-0.834),which is a basic credibility.Conclusion The Huashan diagnostic criteria of Hirayama disease was conducive to the early diagnosis.The clinical classification system of Hirayama disease has good credibility and good clinical intervention guidance value.