Abstract：
We report the case of a Syrian female refugee with late diagnosis of glutaric aciduria type 1 characterised by massive axial hypotonia and quadriplegia who only started adequate diet upon arrival in Switzerland at the age of 4 years, after a strenuous migration journey. Soon after arrival, she died from an unexpected severe upper cervical myelopathy, heralded by acute respiratory distress after a viral infection. This was likely due to repeated strains on her hypotonic neck and precipitated by an orthotopic os odontoideum who led to atlanto-axial subluxation. This case reminds us not to omit handling patients with insufficient postural control and hypotonia with great care to avoid progressive cervical myelopathy.
摘要：
我们报告了一名叙利亚女性难民的病例，晚期诊断为1型戊二酸尿症，其特征是严重的轴向张力减退和四肢瘫痪，仅在4岁时抵达瑞士后才开始饮食。经过艰苦的迁徙之旅。抵达后不久,她死于意外的严重上颈椎病,病毒感染后预示急性呼吸窘迫。这可能是由于她的低张性颈部反复拉伤，并由原位齿状突引起，导致寰枢椎半脱位。这种情况提醒我们不要忽略处理姿势控制不足和张力减退的患者，要非常小心，以避免进行性颈椎病。
