Marchiafava-Bignami disease

Marchiafava-Bignami disease is an extremely rare clinical-radiological syndrome characterized by osmotic demyelination and necrosis of the corpus callosum, associated with severe neurological disturbances.

Pathophysiological Elements

Its etiology is unknown, but it almost exclusively occurs in "severe alcoholic patients with malnutrition." Direct alcohol toxicity and nutritional deficiencies related to alcoholism are classically implicated. However, exceptional cases have been described in non-alcoholic patients.

It may occur concurrently with Wernicke's encephalopathy, which is also its main clinical differential diagnosis.

Clinical Presentation

The condition often progresses acutely or sub-acutely. The clinical picture is typically dominated by confusion, spastic rigidity, epileptic seizures, and coma. Rapid death is the rule.

Chronic forms are characterized by gait apraxia, dysarthria, dementia, or akinetic mutism.

Severe sequelae are common among survivors.

Complementary Examinations

MRI shows characteristic lesions of the corpus callosum (hyperintensities on T2-weighted images, hypointensities on T1-weighted images) and possibly of the white matter, cortical ribbons, optic tracts, and cerebellar peduncles. In advanced stages, hypodensities of the corpus callosum may be identified on CT scan. The clinical presentation and context are generally sufficient to rule out other radiological differential diagnoses (multiple sclerosis, infarction of the corpus callosum, traumatic axonal injuries, etc.).

Other examinations are mainly useful for excluding differential diagnoses.

Management

There is no evidence-based medicine (EBM) regarding treatment other than supportive care. However, the following can be proposed:

• Systematic: high-dose intravenous vitamin supplementation (++ B1, B3, B6, B12, folates)
• Some authors recommend a short course of corticosteroids once infectious differential diagnoses have been ruled out.

Bibliography

Bradley WG et al., Neurology in clinical practice, 5th ed., Butterworth-Heinemann, e-dition, 2007

Charness ME, Overview of the chronic neurologic complications of alcohol, UpToDate, 2022

EMC, Traité de neurologie, 2022

Osborn AG, Diagnostic imaging: brain, Amirsys, USA, 2d ed., 2009