Angeloudi Elena, Xanthopoulou Maria, Lima Maria, Kalyvas Athanasios C, Kotoulas Serafeim C, Dimitriou Maria, Ioannidis Panagiotis, Liakos Aris, Gigi Eleni
Second Department of Internal Medicine, Hippokration Hospital, Aristotle University of Thessaloniki, Thessaloniki 54642, Greece.
Second Neurology Department, AHEPA University Hospital, Thessaloniki 54636, Greece.
World J Methodol. 2025 Dec 20;15(4):101459. doi: 10.5662/wjm.v15.i4.101459.
Autoimmune autonomic ganglionopathy (AAG), formerly known as acute pandysautonomia, is a rare, acquired, antibody-mediated, potentially curable autonomic disorder that presents with diffuse autonomic failure. High levels of anti-ganglionic nicotinic acetylcholine receptor (gAChR) serum antibodies are detected in approximately 50% of AAG cases, confirming the diagnosis.
We present the case of a 68-year-old man who developed autonomic failure gradually over a 2-year period. Recently, the patient was unable to stand upright for more than a few seconds before fainting. Additionally, he presented with decreased sweating, dry mouth, urinary retention, early satiety, weight loss, bloating, constipation, and erectile dysfunction. Neurological examination revealed dilated pupils that were unresponsive to light. Deep tendon reflexes were absent or diminished. Serologic evaluation revealed the presence of gAChR autoantibodies. An orthostatic hypotension test yielded a positive result. The patient did not respond to symptomatic therapy, including midodrine, fludrocortisone and atomoxetine. Second-line therapy with immunoadsorption produced a noticeable clinical improvement; however, orthostatic hypotension persisted. Sequential rituximab infusion therapy successfully led to a significant improvement in symptoms.
Our case report supports the benefit of combined immunomodulatory therapy for refractory AAG cases that are unresponsive to single-agent treatment.
自身免疫性自主神经节病（AAG），以前称为急性全自主神经功能不全，是一种罕见的、后天获得的、抗体介导的、潜在可治愈的自主神经疾病，表现为弥漫性自主神经功能衰竭。在大约50%的AAG病例中可检测到高水平的抗神经节烟碱乙酰胆碱受体（gAChR）血清抗体，从而确诊该病。
我们报告一例68岁男性患者，其在2年时间里逐渐出现自主神经功能衰竭。最近，患者站立数秒以上就会昏厥。此外，他还出现出汗减少、口干、尿潴留、早饱、体重减轻、腹胀、便秘和勃起功能障碍。神经系统检查发现瞳孔散大，对光无反应。腱反射消失或减弱。血清学评估显示存在gAChR自身抗体。直立性低血压试验结果呈阳性。患者对包括米多君、氟氢可的松和托莫西汀在内的对症治疗无反应。免疫吸附二线治疗使临床症状有明显改善；然而，直立性低血压仍然存在。序贯利妥昔单抗输注治疗成功使症状得到显著改善。
我们的病例报告支持联合免疫调节治疗对难治性AAG病例（对单药治疗无反应）的益处。
