Co-occurrence of radiological signs of Marchiafava-Bignami disease and alcohol-related cerebellar degenerationA 53-year-old man with a history of chronic alcohol consumption developed anterograde amnesia, accompanied by visual and auditory hallucinations and behavioral changes. Cognitive evaluation revealed mild impairment in the frontal battery and significant decline in episodic memory (Table 1). On physical examination, the patient presented asymmetric cerebellar ataxia, more pronounced on the left side, along with global areflexia. External eye movements were preserved, and no nystagmus was observed.
Brain magnetic resonance imaging (MRI) reveals global atrophy, predominantly affecting the cerebellar vermis, with three lesions exhibiting hypointensity on T1 and hyperintensity on T2 in the splenium of the corpus callosum (Figures 1 and 2). No restriction in water diffusion or enhance with gadolinium was noted.
Brain magnetic resonance imaging sagittal T1 sequence, post-contrast, showing hypointensity of the splenium lesion and cerebellar vermis atrophy, no enhancement by the contrast.
Brain magnetic resonance imaging axial and coronal T2 sequences showing hyperintense lesions, without mass effect, involving the splenium of the corpus callosum.
Marchiafava Bignami Disease (MBD) is a disorder associated with vitamin deficiency due to chronic alcohol abuse or malnutrition. It classically leads to signal changes in the corpus callosum, as seen on MRI, associated with neuropsychiatric symptoms1. Despite its rarity, knowledge of its clinical and radiological aspects is crucial for early suspicion and accurate diagnosis, which can help prevent negative outcomes.
Some authors advocate classifying the clinical presentation into at least two distinct syndromes, based on the time of onset, severity of symptoms, as well as neuroimaging findings. In this sense, an acute, more severe form is characterized by faster progression and greater involvement of the level of consciousness, often associated with pyramidal symptoms, seizures, and eventually death. Chronic cases, such as the one described above, typically present with slower clinical onset, gait disturbances, dysarthria, interhemispheric disconnection, less pronounced involvement of awareness, and better prognosis2,3.
The typical presentation involves lesions with a cystic appearance or an edema/demyelinating substrate, generally located in the corpus callosum, which may also affect the deep white matter. The number and characteristics of the lesions may change with disease progression. Fewer lesions, restricted diffusion, and gadolinium enhancement typically indicate an acute process2,4,5.
Chronic alcohol consumption has long been associated to structural damage to brain tissue, leading to a variety of neuroimaging patterns, with MBD being one of the many possible complications of this deleterious behavior. A classic feature in patients with chronic alcoholism is brain volume loss, particularly in the cerebellum and frontal lobe. In addition, involvement of the pontocerebellar fibers may lead to pontine atrophy. Less commonly, striatal degeneration may be observed in some subjects, and the combination of MBD and Wernicke encephalopathy has also been described. This supports the statement that, as in the case described above, other findings associated with alcohol abuse, such as cortical and cerebellar atrophy, may be present simultaneously1,6.
This overlap with other, sometimes nonspecific, radiological findings, may hinder the suspicious of MBD and highlights the importance of considering alternative diagnosis. Wernicke encephalopathy usually presents with involvement of the medial thalamic nuclei, hypothalamus, mamillary bodies, and periaqueductal grey matter. Pontine and extrapontine myelinolysis can also be differentiated by the involvement of the central pons, basal ganglia, thalami, lateral geniculate body, cerebellum, and cerebral cortex. Ischemic stroke, contusion, multiple sclerosis, lymphoma, and other diseases with preference for the deep white matters and corpus callosum may mimic MBD syndrome, but usually can be differentiated by the asymmetrical appearance of their lesions, once symmetry is an key feature for this condition7,8.
The cornerstone of treatment is supplementation of complex B vitamins, especially thiamine, as well as cessation of alcohol consumption along with rehabilitation therapy. The use of high-dose corticosteroids in acute patients has been reported as a safe strategy with positive outcomes2,5,9,10.
In the clinical case described, the patient was hospitalized and started on intravenous thiamine replacement, medications for alcohol withdrawal syndrome, as well as treatments to manage symptoms of depression/anxiety. In subsequent follow-up visits, the decision was made to refer him for joint follow-up with outpatient psychiatric care, while continuing surveillance with periodic exams and vitamin replacement, despite only slight improvement in neurological symptoms.
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Edited by
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Editor-in-Chief:
Sonia M. D. Brucki.
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Associate Editor:
Leandro Tavares Lucato.
Publication Dates
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Publication in this collection
07 Apr 2025 -
Date of issue
2025
History
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Received
08 Sept 2024 -
Reviewed
18 Nov 2024 -
Accepted
28 Nov 2024
