以肢体无力起病的先天性寰枢椎脱位误诊分析

Misdiagnosis of Congenital Atlantoaxial Dislocation with Limb Weakness as Initial Symptom

目的探讨以肢体无力起病的先天性寰枢椎脱位的误诊原因及防范措施,分析先天性寰枢椎脱位的临床特点。方法回顾性分析3例曾误诊的以肢体无力起病的先天性寰枢椎脱位的临床资料。结果本组均因肢体无力、不愿行走来院就诊,其中双下肢无力2例,四肢无力1例;3例均有双下肢肌张力增高、肌力下降;2例腱反射活跃、双侧Babinski征阳性;1例存在共济失调。本组误诊时间为3~28 d,平均12.7 d,误诊为急性播散性脑脊髓炎、Guillain-Barre综合征、精神运动发育迟滞各1例,给予相应治疗症状无好转。为进一步明确诊断,3例行颈椎MRI及颈椎CT平扫+三维重建检查,确诊为先天性寰枢椎脱位,经外科手术及康复治疗后症状好转出院。随访18个月,3例均可独立行走、上肢活动无异常、肌张力正常;其中2例肌力正常,1例双下肢肌力略弱。结论临床医生应加强对先天性寰枢椎脱位的认识,遇及肢体无力且对症处理后症状无好转的患者,应尽早完善颈椎MRI及颈椎CT+三维重建检查,争取早期诊断,减少误诊误治。

Objective To discuss the causes of misdiagnosis and preventive measures of congenital atlantoaxial dislocation(AAD)with limb weakness as the initial symptom and to analyze the clinical characteristics of congenital AAD.Methods The clinical data of 3 patients with congenital AAD with limb weakness as initial symptom that was misdiagnosed previously were retrospectively analyzed.Results All the patients presented with limb weakness and unwillingness to walk.There were 2 cases of bilateral lower limb weakness and 1 case of weakness of limbs.Three cases had increased muscle tension and decreased muscle strength of both lower limbs.Two cases had active tendon reflex and the positive bilateral pasteurization signs.One patient had ataxia.The duration of misdiagnosis of this group was 3-28 days,with an average of 12.7 days.They were misdiagnosed as acute disseminated encephalomyelitis,Guillain-Barre Syndrome and Psychomotor retardation respectively.No improvement was observed after symptomatic treatment.The 3 cases with congenital AAD were finally diagnosed by cervical MRI and cervical CT plain scan+three-dimensional reconstruction.The symptoms were improved after surgery and rehabilitation.All the 3 patients were able to walk independently with normal upper limb movement and normal muscle tension at 18 months of follow-up.Muscle strength was normal in 2 cases and slightly weak in 1 case.Conclusion Clinicians should strengthen the understanding of congenital AAD.In case of patients with limb weakness and no improvement of symptoms after symptomatic treatment,timely cervical MRI and CT+3D reconstruction of cervical spine should be recommended,so as to make early diagnosis and reduce misdiagnosis and mistreatment.