危重肯尼迪病合并吉兰-巴雷综合征和呼吸衰竭：一例病例报告

文献信息

中文摘要

背景： 脊髓延髓肌萎缩症（SBMA，肯尼迪病）是一种罕见的X连锁进行性神经退行性疾病。关于严重SBMA伴急性失代偿的重症监护管理证据仍然很少，并且在这种临床情况下，叠加的可治疗免疫介导性神经病常被忽视。
患者关注： 一名61岁男性，有35年进行性肢体无力病史和3个月吞咽困难加重，因急性呼吸衰竭转入我院。他在15天内出现进行性呼吸困难、咳嗽无力及分泌物潴留，并已在转诊机构因低氧性呼吸衰竭接受插管。
诊断： 基因检测证实SBMA为 underlying 诊断，解释了患者慢性进行性无力、延髓功能障碍和慢性神经源性电生理改变。基于急性单相恶化、全身性反射消失、感觉运动轴索性神经病和抗神经节苷脂抗体阳性，怀疑叠加可能的吉兰-巴雷综合征，但诊断确定性受限于脑脊液蛋白正常和混杂的慢性SBMA病理。并发情况包括肺炎、急性节段性肺栓塞和急性呼吸衰竭。
干预： 实施了多学科管理，包括有创呼吸支持、靶向抗菌治疗、治疗性抗凝、积极支气管镜气道清除以及结构化肺和神经肌肉康复。鉴于持续怀疑免疫介导性多发性神经根神经病，给予了四个周期的治疗性血浆置换。
结果： 随着联合干预，氧合和肌力逐渐改善，无法确定单一治疗为唯一贡献因素。患者因持续气道保护缺陷在住院第18天拔管失败，并于第26天接受气管造口术。他成功脱离有创通气，并于住院第44天出院至康复机构。
教训： SBMA患者的急性神经功能恶化应促使评估叠加的、可能可治疗的神经肌肉疾病，而不是完全归因于基线疾病进展。综合多学科护理对于优化严重SBMA合并急性呼吸失代偿的结局至关重要。

英文摘要

RATIONALE: Spinal and bulbar muscular atrophy (SBMA, Kennedy disease) is a rare X-linked progressive neurodegenerative disorder. Evidence on the intensive care management of severe SBMA with acute decompensation remains scarce, and superimposed treatable immune-mediated neuropathies are often overlooked in such clinical scenarios.
PATIENT CONCERNS: A 61-year-old man with a 35-year history of progressive limb weakness and 3 months of worsening dysphagia was transferred to our hospital for acute respiratory failure. He had developed progressive dyspnea, ineffective cough, and secretion retention over 15 days, and had been intubated for hypoxemic respiratory failure at the referring facility.
DIAGNOSES: Genetic testing confirmed SBMA as the underlying diagnosis, accounting for the patient's chronic progressive weakness, bulbar dysfunction, and chronic neurogenic electrophysiologic changes. Superimposed probable Guillain-Barré syndrome was suspected based on acute monophasic deterioration, generalized areflexia, sensorimotor axonal neuropathy, and positive anti-ganglioside antibodies, though diagnostic certainty was limited by normal cerebrospinal fluid protein and confounding chronic SBMA pathology. Concurrent conditions included pneumonia, acute segmental pulmonary embolism, and acute respiratory failure.
INTERVENTIONS: Multidisciplinary management was delivered, including invasive respiratory support, targeted antimicrobial therapy, therapeutic anticoagulation, aggressive bronchoscopic airway clearance, and structured pulmonary and neuromuscular rehabilitation. Four cycles of therapeutic plasma exchange were administered given ongoing suspicion of immune-mediated polyradiculoneuropathy.
OUTCOMES: Oxygenation and muscle strength improved gradually with combined interventions, and no single treatment could be identified as the sole contributor. The patient experienced extubation failure on hospital day 18 due to persistent airway protection deficits, and underwent tracheostomy on day 26. He was successfully weaned from invasive ventilation and discharged to a rehabilitation facility on hospital day 44.
LESSONS: Acute neurological deterioration in patients with SBMA should prompt evaluation for superimposed, potentially treatable neuromuscular disorders, rather than being attributed exclusively to baseline disease progression. Integrated multidisciplinary care is essential to optimize outcomes in severe SBMA complicated by acute respiratory decompensation.