背景:Cockayne综合征(CS)是一种罕见的遗传性疾病,其特征是进行性运动症状,包括肌肉无力,关节挛缩,共济失调,和痉挛。A型肉毒神经毒素已用于肌张力障碍和痉挛等疾病,但很少用于CS患者。
方法:我们报告了一名6岁9个月的女孩,她被诊断为CS,她接受了A型肉毒神经毒素注射,以控制行走困难。将总剂量为210单位的A型肉毒杆菌神经毒素施用于双侧胫骨后肌和腓肠肌。为了评估对痉挛的治疗效果,关节挛缩,疼痛,和共济失调,测量工具,包括改良的Ashworth量表,被动运动范围,面部疼痛量表修订,以及共济失调评估和评级量表,被雇用。注射后的第一周,足底屈肌和足倒肌的改良Ashworth量表评分双侧改善,随着双侧脚踝被动活动范围的进步和面部疼痛量表修订后的得分降低。这些治疗效果持续到注射后第8周,但在注射后第12周恢复到基线值,除了疼痛量表。
结论:因此可以考虑注射肉毒杆菌毒素作为下肢痉挛的治疗选择,关节挛缩,和疼痛源自CS。
BACKGROUND: Cockayne syndrome (CS) is a rare inherited disease characterized by progressive motor symptoms including muscle weakness, joint contracture, ataxia, and spasticity. Botulinum neurotoxin type A has been used for conditions such as dystonia and spasticity, but it has rarely been used in patients with CS.
METHODS: We report a 6-year-and-9-mo old girl diagnosed with CS who received an injection of botulinum neurotoxin type A to manage her difficulty with walking. A total dose of 210 units of botulinum neurotoxin type A was administered into the bilateral tibialis posterior and gastrocnemius muscles. To evaluate the treatment effects on spasticity, joint contracture, pain, and ataxia, measurement tools including the Modified Ashworth Scale, the passive range of motion, the Faces Pain Scale-Revised, and the Scale for the Assessment and Rating of Ataxia, were employed. The first week after the injection, the Modified Ashworth Scale score for the plantar flexors and foot invertors improved bilaterally, along with advancements in the passive range of motion of the bilateral ankles and a lower score for the Faces Pain Scale-Revised. These treatment effects persisted to the 8th week post-injection, but returned to baseline values at the 12th week post-injection, except for the pain scale.
CONCLUSIONS: Botulinum toxin injection can thus be considered as a treatment option for lower extremity spasticity, joint contracture, and pain derived from CS.