Iliuta Floris Petru, Manea Mirela, Mares Aliss Madalina, Varlam Corina Ioana, Ciobanu Constantin Alexandru, Ciobanu Adela Magdalena, Lacau Radu-Mihail, Manea Mihnea Costin
Department of Psychiatry and Psychology, Discipline of Psychiatry, Faculty of Dental Medicine, "Carol Davila" University of Medicine and Pharmacy, 010221 Bucharest, Romania.
Department of Psychiatry, "Prof. Dr. Alexandru Obregia" Clinical Hospital of Psychiatry, 041914 Bucharest, Romania.
Diseases. 2025 Sep 22;13(9):310. doi: 10.3390/diseases13090310.
Alzheimer's disease (AD) is the most prevalent form of dementia, particularly in those aged 65 and older. Dementia can also occur under age 45, known as young-onset dementia (YOD), although this is rarer. Marchiafava-Bignami disease (MBD) is a rare disorder characterized by demyelination and necrosis of the corpus callosum, primarily affecting individuals with chronic alcohol use. We present the case of a 49-year-old woman admitted for psychiatric and neurological evaluation due to a multidomain cognitive disorder with a sudden onset approximately four years prior, which progressed rapidly, resulting in complete dependence on others for daily activities. Her medical history included moderate depression, chronic alcohol consumption, and professional exhaustion. Psychological assessments revealed severe neurocognitive impairment. MRI scans highlighted significant bilateral parietal atrophy, hippocampal atrophy, and demyelinating lesions in the corpus callosum, consistent with MBD. Despite initial inconsistencies in biomarkers, later tests showed elevated tau protein, phosphorylated tau, and amyloid-beta, supporting an AD diagnosis. Clinical presentation, combined with neuroimaging findings and chronic alcohol consumption history, led to a diagnosis of AD with young onset and chronic MBD. This case illustrates the complexities involved in diagnosing overlapping neurodegenerative disorders. The coexistence of MBD and AD complicates the treatment plan, requiring a multifaceted approach addressing both neurodegenerative and nutritional aspects.
阿尔茨海默病(AD)是最常见的痴呆形式,尤其在65岁及以上人群中。痴呆也可发生在45岁以下,称为早发性痴呆(YOD),不过这种情况较为罕见。马奇亚法瓦 - 比尼亚米病(MBD)是一种罕见的疾病,其特征是胼胝体脱髓鞘和坏死,主要影响长期饮酒的个体。我们报告了一例49岁女性的病例,该患者因大约四年前突然发作的多领域认知障碍入院接受精神科和神经科评估,病情进展迅速,导致日常生活完全依赖他人。她的病史包括中度抑郁症、长期饮酒和职业倦怠。心理评估显示严重的神经认知障碍。MRI扫描突出显示双侧顶叶显著萎缩、海马萎缩以及胼胝体脱髓鞘病变,与MBD相符。尽管生物标志物最初存在不一致,但后来的检测显示tau蛋白、磷酸化tau蛋白和淀粉样β蛋白升高,支持AD诊断。临床表现、神经影像学检查结果以及长期饮酒史相结合,导致诊断为早发性AD合并慢性MBD。该病例说明了诊断重叠性神经退行性疾病所涉及的复杂性。MBD和AD的共存使治疗计划变得复杂,需要采取多方面的方法来解决神经退行性和营养方面的问题。