First described by Marchiafava and Bignami (2 Italian pathologists) in 1903. A progressive neurological disease most frequently seen in middle-aged or elderly alcoholic males. Degeneration, usually uniform, of the middle portion (middle lamina) of the myelinated fibre tracts of the corpus callosum occurs.¹

Epidemiology²

• Very rare; a literature review in 2001 found a total of 250 reported cases.
• Many cases may go undetected, with clinical features merging with other underlying alcohol-related problems.

Risk factors

Most cases have been reported in:

• Those aged over 45 years
• Males
• Alcoholics

Presentation

• Most patients have a history of alcoholism and poor nutrition.
• Onset may be sudden with stupor, coma or seizures.
• Other patients present with acute or chronic dementia and/or gait problems. Spasticity often complicates the gait disorder.
• Psychiatric disturbances include incontinence, hemiparesis, aphasia, and apraxia.

Signs

• Usually non-specific.
• General disheveled condition suggestive of chronic alcohol problems.
• May be lethargic, stuporous, or even unconscious (coma or seizures).
• Inability to retain new information, Korsakoff syndrome, alcoholic neuropathy and delirium tremens suggestive of alcoholism.
• Dementia and aphasia may occur.
• Tremors, weakness, spasticity and gait abnormalities may also be present.

Differential diagnosis

• Other brain lesions associated with alcoholism, e.g. Wernicke's encephalopathy, hepatocerebral degeneration, head trauma, central pontine myelinolysis and pellagra.³
• Non-specific neuropsychiatric symptoms require differentiation from encephalitis and other causes of encephalopathy.⁴

Investigations

• CT scan: may show callosal damage but changes may be mild and not detected.
• MRI: may be necessary to clearly delineate the problem.⁴
• EEG: to evaluate seizures.
• Neuropsychological testing: can demonstrate difficulties with information transfer between the right and left brain.

Management

• No specific treatment is available.
• Management of other alcohol related problems: thiamine, rehabilitation.

Prognosis

• Before CT scans, almost all patients were discovered at autopsy. They had usually died from alcohol-related problems and had had severe neuropsychological deficits prior to death.
• CT and MRI scanning allow detection of milder cases, and some patients have recovered with minimal deficits.⁵
• In those with alcoholism, the prognosis is poor unless the patient adheres to an alcohol treatment program.

Prevention

Prevention of alcohol-related problems through education and mental health support.