Prohászka Bence, Kaposi Novák Pál, Jánosi Zsuzsanna, Gunda Bence, Pákozdy Ildikó, Gaál-Marschal Szabolcs, Melicher Dóra, Fenyves Bánk G, Varga Csaba
Department of Emergency Medicine, Semmelweis University, Budapest, Hungary.
Medical Imaging Center, Semmelweis University, Budapest, Hungary.
Int J Emerg Med. 2025 Apr 8;18(1):73. doi: 10.1186/s12245-025-00873-9.
Marchiafava-Bignami Disease (MBD) is a rare disorder characterized by demyelination and necrosis of the corpus callosum, with only 300 documented cases worldwide. Chronic alcohol consumption and vitamin B-complex deficiencies are contributing factors. Acute cases may present with a range of neurological symptoms, including seizures and coma. Subacute and chronic forms can lead to interhemispheric disconnection syndrome and progressive dementia.
We present the case of a young male patient's first hospital admission due to an acute decline in conscious level. A detailed history revealed regular alcohol consumption and substandard living conditions. The deterioration in consciousness was attributed to the diagnosis of MBD based on neurological signs, characteristic brain imaging findings, and a history of alcohol use. In addition, a small bowel perforation was also diagnosed. Supportive therapy and thiamine were initiated, and the patient was transferred to surgery for an operation. After two surgeries, the perforation was covered. The patient's level of consciousness showed slight improvement; however, the psychiatrist noted severe cognitive deficits. Ultimately, the patient entered a septic state and passed away.
Acute MBD can potentially cause altered mental state, coma, and death; however, cases can be complicated by other emergency conditions. This case demonstrates the importance of a multidisciplinary approach.
马奇亚法瓦-比尼亚米病(MBD)是一种罕见的疾病,其特征为胼胝体脱髓鞘和坏死,全球仅有300例文献记载病例。长期饮酒和复合维生素B缺乏是致病因素。急性病例可能出现一系列神经症状,包括癫痫发作和昏迷。亚急性和慢性形式可导致半球间分离综合征和进行性痴呆。
我们报告一例年轻男性患者因意识水平急性下降首次入院的病例。详细病史显示其有规律饮酒且生活条件不佳。基于神经体征、典型的脑影像学表现及饮酒史,意识恶化归因于MBD的诊断。此外,还诊断出小肠穿孔。开始给予支持治疗和硫胺素,并将患者转至外科进行手术。经过两次手术后,穿孔得到修复。患者的意识水平略有改善;然而,精神科医生注意到其存在严重的认知缺陷。最终,患者进入脓毒症状态并死亡。
急性MBD可能导致精神状态改变、昏迷和死亡;然而,病例可能并发其他紧急情况。本病例证明了多学科方法的重要性。