Internal Medicine, University of Florida College of Medicine - Jacksonville, Jacksonville, Florida, USA
Neurology, UF Health Jacksonville, Jacksonville, Florida, USA.
BMJ Case Rep. 2022 Apr 4;15(4):e247852. doi: 10.1136/bcr-2021-247852.
Marchiafava-Bignami disease (MBD) is a rare demyelinating condition of the corpus callosum and subcortical white matter that is most commonly seen in alcoholic patients. The course of the disease varies with symptoms that range from dementia to complete coma; severe intermittent sympathetic storming with abnormal posturing is often reported in literature. It is presumably secondary to a deficiency of B complex vitamins, specifically thiamine and many patients have clinical improvement after repletion of B vitamins. We present a case of a 35-year-old man who developed MBD secondary to polysubstance misuse without history of alcohol use. His clinical course was complicated by persistent comatose state with autonomic dysfunction. After the administration of high-dose thiamine and vitamin C and E, the patient regained consciousness and was able to follow commands within 48 hours. Furthermore, this case showed recognising brain MRI findings for MBD is a crucial step in disease identification.
Marchiafava-Bignami 病(MBD)是一种罕见的胼胝体和皮质下白质脱髓鞘疾病,最常见于酒精中毒患者。疾病的病程因症状而异,从痴呆到完全昏迷;文献中经常报道严重的间歇性交感神经风暴伴有异常姿势。据推测,这是由于 B 族复合维生素缺乏引起的,特别是硫胺素,许多患者在补充 B 族维生素后临床症状改善。我们报告了一例 35 岁男性,由于多种物质滥用而继发 MBD,无饮酒史。他的临床病程复杂,伴有持续性昏迷和自主神经功能障碍。给予大剂量硫胺素、维生素 C 和 E 后,患者在 48 小时内恢复意识并能够听从指令。此外,本病例表明,识别 MBD 的脑部 MRI 表现是疾病诊断的关键步骤。