Antemortem radiologic and histopathologic presentation of Marchiafava-Bignami disease

Marchiafava-Bignami disease (MBD) is a rare disorder, characterized by demyelination and cystic necrosis of the corpus callosum; it is typically seen in the setting of chronic alcoholism but may also occur with severe malnutrition. Clinical features include altered mental status, loss of consciousness, dysarthria, spasticity, ataxia, and seizures. To our knowledge, only 1 case of MBD with antemortem histology has been reported in the literature. Herein, we describe the clinical, radiologic, and histopathologic features of 2 new cases with corpus callosum demyelination consistent with MBD that were identified on antemortem biopsy; 1 was related to chronic alcoholism and the other was in the setting of severe malnutrition. Imaging studies showed that the initial lesions involved the full thickness of the corpus callosum with later evolution into the characteristic linear zone of necrosis in the mid-third of the corpus callosum. There was additional evidence of extracallosal involvement in both patients. Biopsies in both patients demonstrated numerous macrophages with myelin debris in their cytoplasm and relative axonal preservation, although there was some axonal loss in areas with the densest collection of macrophages. These findings highlight the clinical and radiographic progression in 2 cases of biopsy-proven MBD.