Mesh : Humans Down Syndrome / complications Atlanto-Axial Joint / diagnostic imaging surgery Heart Arrest / etiology Joint Dislocations / surgery complications diagnostic imaging Male

来  源:   DOI:10.1038/s41394-024-00649-y   PDF(Pubmed)

Abstract:
BACKGROUND: Down syndrome is the most common chromosomal abnormality associated with intellectual impairments. Unexpected deaths are common with this disease. There are certain difficulties in clarifying the cause of death because the manifestations may be quite diverse and involve many organ systems. Atlantoaxial subluxation is a dangerous complication of Down syndrome, as it may lead to cervical cord-medullary compression.
METHODS: Herein, we present a case of Down syndrome in a patient who completely recovered from cardiac arrest due to atlantoaxial subluxation. The neck was immobilized during post-cardiac arrest care, and the patient underwent surgery after 14 days. The patient could walk independently and was discharged 3 months later. At the last follow-up 5 years after surgery, the patient\'s general condition was good.
CONCLUSIONS: Physicians should be aware that atlantoaxial instability can cause cardiac arrest in patients with genetic syndromes.
摘要:
背景:唐氏综合征是与智力障碍相关的最常见的染色体异常。这种疾病很常见意外死亡。在澄清死亡原因方面存在一定的困难,因为其表现可能相当多样,涉及许多器官系统。寰枢椎半脱位是唐氏综合征的危险并发症,因为它可能导致颈髓压迫。
方法:这里,我们介绍了1例唐氏综合征患者,该患者因寰枢关节半脱位而从心脏骤停中完全康复。心脏骤停后护理期间颈部固定,患者在14天后接受了手术。患者可独立行走,3个月后出院。在手术后5年的最后一次随访中,病人的一般情况很好。
结论:医生应该意识到寰枢椎不稳定可导致遗传综合征患者的心脏骤停。
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