PDF(Pubmed)
Abstract：
Miller-Fisher syndrome (MFS) is a rare variant of Guillain-Barré syndrome, characterized by ataxia, areflexia, ophthalmoplegia, and possible facial, swallowing and limb weakness alongside respiratory failure. Variations within MFS may include respiratory and limb weakness and Bickerstaff brainstem encephalitis (BBE), marked by altered consciousness, ataxia, ophthalmoparesis, and paradoxical hyperreflexia. MFS can emerge in both children and adults, often following bacterial or viral illness. While autoimmune-driven nerve damage occurs, most MFS patients recover within six months without specific treatment, with a low risk of lasting neurological deficits or relapses. Rarely fatal, MFS\'s co-occurrence with cholangiocarcinoma (CCA) presents unique management challenges. CCA, primarily affecting bile ducts, has a bleak prognosis; surgical resection offers limited cure potential due to late-stage detection and high recurrence rates. Advances in CCA\'s molecular understanding have led to novel diagnostic and therapeutic approaches, requiring a comprehensive interdisciplinary care approach for optimal MFS and CCA management outcomes. Herein, we present a 50-year-old male with a complex medical history who was admitted to the hospital due to abdominal discomfort, nausea, vomiting, and ascites. Imaging revealed pneumonia and secondary bacterial peritonitis. Later, he developed neurological symptoms, including weakness, gait abnormalities, and brainstem symptoms, leading to the diagnosis of MFS. Despite treatment efforts, his condition deteriorated, leading to acute liver failure and unexplained anasarca. N-acetyl cysteine was initiated for liver issues. Neurologically, he showed quadriparesis and areflexia. Intravenous immunoglobulin (IVIG) treatment improved his neurological symptoms but worsened gastrointestinal issues, including ileus and elevated CA19-9 levels, suggesting a potential carcinoma. A liver biopsy was performed. After IVIG treatment, he experienced widespread discomfort, emotional unresponsiveness, swallowing difficulties, and aspiration risk, ultimately leading to his demise.
摘要：
米勒-费希尔综合征（MFS）是格林-巴利综合征的一种罕见变种，以共济失调为特征，无反射,眼肌麻痹,和可能的面部，吞咽和四肢无力伴有呼吸衰竭。MFS内的变化可能包括呼吸和肢体无力以及Bickerstaff脑干脑炎（BBE），以意识改变为标志，共济失调,眼瘫,和矛盾的反射亢进。MFS可以出现在儿童和成人中，通常在细菌或病毒性疾病之后。当发生自身免疫驱动的神经损伤时，大多数MFS患者在没有特殊治疗的情况下在六个月内康复，持续的神经功能缺损或复发的风险较低。很少致命，MFS与胆管癌（CCA）的共存提出了独特的管理挑战。CCA,主要影响胆管，预后暗淡；由于晚期检测和高复发率，手术切除的治愈潜力有限。CCA分子理解的进展导致了新的诊断和治疗方法，需要全面的跨学科护理方法，以实现最佳的MFS和CCA管理结果。在这里，我们介绍一名50岁男性，有复杂的病史，因腹部不适入院，恶心,呕吐,和腹水。影像学显示肺炎和继发性细菌性腹膜炎。稍后，他出现了神经症状,包括弱点,步态异常,和脑干症状，导致MFS的诊断。尽管治疗努力,他的病情恶化,导致急性肝功能衰竭和原因不明的失踪症。启动N-乙酰半胱氨酸用于肝脏问题。神经,他表现出四肢轻瘫和反射障碍。静脉免疫球蛋白（IVIG）治疗改善了他的神经症状，但恶化了胃肠道问题，包括肠梗阻和CA19-9水平升高，提示潜在的癌症.进行肝活检。IVIG治疗后，他经历了广泛的不适，情绪反应迟钝，吞咽困难,和期望风险，最终导致他的死亡。
