局灶性纤维软骨发育不良导致儿童肱骨近端内翻畸形的诊治

Diagnosis and treatment of proximal humeral varus in children with focal fibrocartilaginous dysplasia

目的分析局灶性纤维软骨发育不良(focal fibrocartilaginous dysplasia,FFCD)导致肱骨内翻畸形的影像学特点及病理检查结果,探讨其诊断及有效治疗方法。方法回顾性分析我科2005~2018年收治的10例肱骨内翻畸形患儿的临床资料,排除感染、创伤等病因,其中男7例,女3例;年龄10~14岁,平均12.1岁,均为单侧发病,左侧7例,右侧3例。入院后完善X线片、CT及MRI等检查,并进行相关的测量,包括肱骨近端颈干角、双侧肱骨长度等,均行病灶切除+肱骨近端截骨矫形内固定术。术后定期复查X线片检查评价截骨是否愈合、肱骨内翻畸形矫正是否满意、肢体短缩有无改善,每次复查均需要评价肩关节前屈上举及外展功能。结果本组平均随访时间12~48个月,平均31.1个月。10例术前X线片均可见肱骨近端内翻畸形、颈干角减小、肱骨大结节高位、肱骨近端干骺端的内侧皮质伴有边缘硬化的透亮骨质缺损带,呈凹陷状。MRI可见肱骨近端内侧长T_(1)、短T_(2)信号影,提示致密纤维结缔组织存在。术后复查期间均获得截骨愈合,时间3~6个月,平均4.2个月。末次随访患儿肱骨颈干角、前屈上举角度、肩关节外展角度均较术前明显改善,差异有统计学意义(P<0.05),术前与术后患肢长度差异无统计学意义(P>0.05)。患儿肩关节已经能满足日常及体育活动要求,未出现肩部疼痛、伤口感染、神经损伤等并发症。术后病理6例为纤维组织,2例为纤维软骨组织,2例为纤维软骨和纤维组织的混合。结论对于排除感染、创伤等病因的肱骨内翻畸形,应考虑FFCD这一特殊的致病因素,通常可通过典型影像学表现诊断,术后病检结果将会更加支持这一诊断。FFCD造成的肱骨内翻畸形,在病灶切除的同时,通过肱骨近端外翻截骨联合接骨板螺钉固定,可以矫正畸形并提供牢靠的固定,术后肩关节功能可得到明显改善。

Objective To explore the diagnosis and effective treatment of humeral varus deformity in children caused by focal fibrocartilaginous dysplasia(FFCD)through the retrospective analysis of imaging findings and pathological examination results.Methods Clinical data of 10 cases(7 cases on the left,3 cases on the right)with unilateral humeral varus deformity in our department from 2005 to 2018 were retrospectively analyzed.There were7 males and 3 females with an average of 12.1 years(range:10-14 years).Infection and trauma were excluded.X-ray,CT and MRI examinations were completed,and relevant measurements were performed,including humeral neck-shaft angle and bilateral humeral length.Lesion resection and valgus osteotomy of the proximal humerus with internal fixation using plate and screws were performed.X-ray examination was applied to evaluate bone healing,correction of humeral varus deformity,limb shortening,shoulder anteflexion and abduction.Results Follow-up ranged 12 to 48 months(average:31.1 months).Preoperative X-ray showed varus deformity of the proximal humerus,decreased neck-shaft angle,high-level greater tuberosity of the humerus(greater tuberosity of the humerus was higher than the upper edge of humerus neck and articular surface)and transparent bone defect accompanied with marginal sclerosis of the concave medial cortex of proximal humerus metaphysis.MRI showed long T;and short T;signals in the medial proximal humerus,indicating the existence of dense fibrous connective tissues.Bone healing was achieved during the follow-up with an average healing time of 4.2 months(range:3-6 months).At the last follow-up,humeral neck-shaft angle,elevation forward and abduction were significantly improved after operation(P<0.05).No significant differences in the length of the affected limb were noted before and after operation(P>0.05).Daily and sports activities were realized without pain,wound infection,nerve injury or other complications.Pathological findings:6 fibrous tissue specimens,2 fibrocartilage tissue specimens and 2 mixed specimens of fibrocartilage and fibrous tissue.Conclusions FFCD should be considered as a special pathogenic factor,which can be diagnosed by typical imaging and pathological findings.Proximal humerus valgus osteotomy combined with plate and screw fixation during lesion resection will correct deformity and improve shoulder function in the treatment of humeral varus deformity without infection,trauma and other causes.