先天性单侧上肢肌源性肥大综合征——形态学特点及治疗

摘要

目的 探讨先天性单侧上肢肌源性肥大综合征的形态学特点及治疗原则.方法 回顾和总结1992年5月至2012年10月诊疗的先天性单侧上肢肌源性肥大12例,男7例,女5例;平均5.5岁(3～17岁).左侧5例,右侧7例.主要形态学特点:出生时即存在;单侧上肢肥大(屈伸侧),手比上臂及前臂严重,非进行性增长;强力伸指时,手指过度外展;拇指过度桡、掌侧外展,虎口极度宽大;手掌增宽;掌指关节尺偏、屈曲(类似吹风手畸形),尤以示、中指严重;除外原发性和继发性巨肢征.具备以上特点即可作出临床诊断.如手术探查见到大量数目增多、起止点及走行异常、体积增大的内在和外在肌,则可最终诊断.所有患者患手功能均受限.12例均进行手术治疗,次数1～4次,包括拇指指蹼缩窄术、大小鱼际皮肤及变异肌肉部分切除、掌指关节中央腱束稳定术、掌骨截骨内固定术、掌指关节掌侧皮肤松解植皮术;手术中详细探查术区肌肉异常改变情况.上述手术单独或重叠进行,最多可组合上述术式3种同时进行.结果 所有患者均由手术者随访,平均2.5年.拇指桡侧外展较术前平均减少25°,掌指关节侧偏畸形手术矫正22个关节,4个关节复发,掌骨截骨(5处)全部愈合,掌指关节屈曲畸形较术前平均减少12°,患者家长对外形满意率为60％、不满意率40％,功能满意率50％、不满意率50％.结论 先天性单侧肌源性上肢肥大是一种罕见的有独立形态学特征的先天性疾患,手的外形及功能均受到严重影响,主要为先天性内在肌和外在肌数量增多、体积异常增大、起止及走行异常引起,手术治疗可以在一定程度上部分改善手的外形及功能.%Objective To investigate the clinical features and treatment principles of unilateral congenital upper limb myohypertrophy.Methods A retrospective review of the cases of unilateral congenital upper limb myohypertrophy treated by the author from May 1992 to October 2012 was conducted.There were 12 cases with 7 males and 5 females.Patients' age averaged 5.5 years (range,3 to 17 years).They had the following clinical and morphological characteristics:congenital; unilateral hypertrophy of the upper extremity on both the flexion and extension side; more severe involvement of the hand than the forearm and upper arm with splayed fingers and broad hand; hyperabduction of the thumb towards radial and palmar side with a hypermegalia web space; ulnar/radial deviation and flexion deformity at the metacarpophalangeal joints (similar to windblown hand deformity) most prominent in the index and middle fingers.When primary or secondary macromelia is excluded,clinical diagnosis of unilateral congenital upper limb myohypertrophy could be made based on the above characters.Final diagnosis depended on the intraoperative findings of multiple aberrant intrinsic and extrinsic muscles with abnormal origin/insertion and orientation,and increased volume.All these 12 patients had functional impairment of the hand and went through 1 to 4 operations which included coarctation of the thumb web space,debulking of the thenar and hypothenar eminence,excision of aberrant muscles,stabilization of the metacarpophalangeal joint central slip,metacarpal osteotomy,skin release and dermatoautoplasty at the volar aspect of the metacarpophalangeal joint.Intraoperatively,the abnormal conditions of muscles in the operation area were carefully explored.These surgical procedures were carried out individually or simultaneously when up to 3 of them were combined at the same time.Results All the patients were followup by the surgeon for an average of 2.5 years.The radialhyperabduction of the thunb was reduced by an average of 25°.22 joints were underwent operations to correct lateral deviation,and 4 had recurrence.The osteotomy healed in all 5 cases.Flexion deformity of the metacarpophalangeal joints was improved by an average of 12°.60％ of the parents were satisfied with the appearance of the limb while 40％ were not.As for functions of the operated limb,50％ of the parents were satisfied versus 50％ dissatisfied.Conclusion Unilateral congenital upper limb myohypertrophy is a rare congenital anomaly with independent morphological characteristics.The appearance and function of the hand are severely affected,mainly attributed to congenital aberrant intrinsic and extrinsic muscles with abnormal insertions and orientation,and increased volume.Surgical corrections can partially improve the appearance and function of the hand.