Acute Marchiafava–Bignami disease with plexiform neurofibroma: a case report

Abstract

Background: Marchiafava–Bignami disease (MBD) is a rare neurological disorder characterized by demyelination and necrosis of the corpus callosum. It is most commonly associated with chronic alcohol use and nutritional deficiency. Clinical manifestations are variable and may include seizures, altered sensorium, gait disturbance, and speech impairment. Early recognition is often difficult due to the nonspecific nature of presenting symptoms. Magnetic resonance imaging (MRI) plays a crucial role in establishing the diagnosis. Plexiform neurofibroma, a benign peripheral nerve sheath tumor typically associated with neurofibromatosis type 1, is rarely encountered alongside unrelated neurological conditions.

Case description: We report the case of a 37-year-old man with a long history of alcohol dependence who presented with acute confusion, seizures, slurred speech, and gait instability following heavy alcohol intake. MRI of the brain demonstrated symmetrical signal abnormalities involving the corpus callosum consistent with MBD. Physical examination also revealed a long-standing cervical plexiform neurofibroma.

Management and outcome: The patient was treated with high-dose intravenous thiamine along with supportive measures and anticonvulsant therapy. Gradual neurological improvement was observed during hospitalization.

Conclusion: This case highlights the importance of considering MBD in individuals with chronic alcohol use who present with acute neurological symptoms. Prompt neuroimaging and early thiamine administration are essential to improve clinical outcomes.