Marchiafava–Bignami Disease Presenting as Acute Dysarthria and Ataxia

García-Santibáñez, Rocío

doi:10.1093/alcalc/agu093

Cited by 4 publications

(2 citation statements)

References 5 publications

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“…Our patient had a history of malnutrition and consummation of red wine for an unknown period. It is generally accepted that the disease is due to the deficiency of the vitamin B 1 , thiamine 3,4 .…”

Section: Discussionmentioning

confidence: 99%

Unusual case of Marchiafava-Bignami disease presenting as axial hypotonia

et al. 2019

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Introduction. Marchiafava-Bignami disease is a rare disorder mostly associated with chronic heavy alcohol consumption that results in progressive demyelination and necrosis of the corpus callosum. Case report. We reported a 35-year-old woman with a history of alcohol consumption and malnutrition. Neurological examination revealed axial hypotonia, dysarthric speech and lack of motor coordination. The brain multislice computed tomography imaging demonstrated hypodense lesion of the corpus callosum. On the basis of her history, clinical features and imaging studies, the diagnosis of an acute form of Marchiava-Bignami disease was made. Definite diagnosis was confirmed at autopsy. Conclusion. Marchiafava-Bignami disease is of a medical emergency and early recognition and early aggressive treatment are critical for a good clinical outcome. To our knowledge, this is the first case of Marchiafava-Bignami disease presented with axial hypotonia.

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Section: Discussionmentioning

confidence: 99%

Unusual case of Marchiafava-Bignami disease presenting as axial hypotonia

et al. 2019

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“…However, it has a higher incidence in men, likely due to the closer association of the disease with alcohol consumption in males than females 17,18 . The average age of onset of MBD is around 45 years 19 . MBD is considered a very rare condition.…”

Section: Epidemiologymentioning

confidence: 99%

Diagnosis and Management of Marchiafava-Bignami Disease, a Rare Neurological Complication of Long-term Alcohol Abuse

Singer,

Bhatt,

Prashad

et al. 2023

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Marchiafava Bignami disease (MBD) is a neurological disorder characterized by myelin degeneration and tissue necrosis within the central nervous system. This condition predominantly afflicts individuals with chronic alcohol abuse and malnutrition. The most distinctive pathological feature of MBD is the necrotic degeneration specifically observed in the corpus callosum; however, emerging evidence also indicates the potential involvement of other brain regions. The main pathophysiological mechanisms involve alcohol consumption, which leads to thiamine depletion and disrupts various metabolic pathways. This, in turn, hinders myelin synthesis and impairs signal transmission, resulting in a wide range of symptoms and signs. MBD can manifest in different stages, including acute, subacute, and chronic, each with varying severity. Diagnosing MBD can be challenging due to its presenting symptoms being nonspecific. In the era preceding the development of sophisticated imaging methodologies, the diagnosis of MBD was primarily established through postmortem examination conducted during autopsies. However, with a detailed medical history and imaging modalities such as magnetic resonance imaging (MRI) and computed tomography (CT), it is now possible to diagnose MBD and differentiate it from other diseases with similar clinical presentations. MRI is considered the gold standard for visualizing lesions in the corpus callosum and other affected areas. Also, positron emission tomography (PET), single photon emission computed tomography (SPECT), and magnetic resonance spectroscopy (MRS) could show brain damage in the corpus callosum associated with MBD. MRI-diffusion-weighted imaging (DWI) detects early lesions, while diffusion tensor imaging (DTI) investigates clinical manifestations and recovery. Poor prognostic indicators for MBD include extensive cerebral cortex involvement and severe disturbances in consciousness. Differential diagnosis involves ruling out other alcohol-related disorders, such as neoplastic conditions, Wernicke's encephalopathy, and multiple sclerosis, among others, through careful evaluation. The therapeutic strategies for the management of MBD are currently lacking definitive establishment; however, available evidence indicates that targeted interventions have the potential to induce amelioration. Corticosteroids offer prospective advantages in addressing brain edema, demyelination, and inflammation; research findings present a heterogeneous outcome pattern. Notably, thiamine treatment reduces the likelihood of unfavorable consequences, particularly when administered promptly, and thus is endorsed as the primary therapeutic approach for MBD. This review will highlight this rare disease that many healthcare providers might not be familiar with. By understanding its clinical presentation, differential diagnosis, imaging, and management, medical providers might better identify and diagnose MBD. Raising awareness about this condition can lead to better prevention, early detection, and timely intervention.

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