Marchiafava-Bignami Syndrome

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PatientPlus articles are written by UK doctors and are based on research evidence, UK and European Guidelines. They are designed for health professionals to use, so you may find the language more technical than the condition leaflets.

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The syndrome was first described by Marchiafava and Bignami (two Italian pathologists) in 1903. It is 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.

In 2007, two cases of female patients not associated with alcohol have been reported. One was associated with ovarian cancer and the other presented with encephalopathy and returned to baseline after treatment with vitamin supplementation. Nutritional factors and electrolyte imbalance have been implicated.

Recently, a case of a female with dermatomyositis has been documented.[2]

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  • It is very rare; a literature review in 2001 found a total of 250 reported cases.[3] A further 50 cases were identified in a literature search in 2008.
  • Many cases may go unreported, with clinical features merging with other underlying problems related to alcohol.[4]
  • Initially, it was thought to be a disease mainly of Italians; it is now known to occur worldwide. There seems to be no predilection for race, gender or geographical distribution.

Risk factors

Most cases have been reported in:

  • Those aged over 45 years.
  • Males.
  • Alcoholics.
  • 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.

Radiology has helped to identify two subgroups:

  • Type A is characterised by coma, stupor and pyramidal tract features. Radiology reveals involvement of the entire corpus callosum.
  • Type B patients have normal or mildly impaired status and the corpus callosum is only partially affected.

Signs

  • Usually nonspecific.
  • A generally dishevelled condition is suggestive of chronic alcohol problems.
  • The patient may be lethargic, stuporous, or even unconscious (coma or seizures).
  • Inability to retain new information, Korsakoff's syndrome, alcoholic neuropathy and delirium tremens suggestive of alcoholism.
  • Dementia and aphasia may occur.
  • Tremors, weakness, spasticity and gait abnormalities may also be present.
  • Screening blood tests may be needed for patients presenting with altered consciousness, eg serum electrolyte and glucose levels, FBC and toxicology.
  • CT scan: may show callosal damage but changes may be mild and not detected. It may, however, be required urgently to exclude haemorrhage or a mass.
  • Lumbar puncture may also be performed after CT scanning to exclude infection.
  • MRI: may be necessary to delineate the problem clearly, and is the most sensitive imaging modality.[6]
  • Electroencephalography (EEG): to evaluate seizures.
  • Neuropsychological testing: can demonstrate difficulties with information transfer between the right and left brain.
  • No specific treatment is available.
  • Management of other alcohol-related problems: thiamine, vitamin B12, other B vitamins, folate, rehabilitation.
  • Intravenous corticosteroids and amantadine combined with B12 and thiamine have been reported to be beneficial on an anecdotal basis.
  • Before the existence of 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. One documented case related to alcoholism completely recovered after treatment with intravenous vitamin B complex and methylprednisolone.[7]
  • In those with alcoholism, the prognosis is poor unless the patient adheres to an alcohol treatment programme.
  • Of the 250 patients reported in 2001, only 20 had a favourable outcome. 200 died and 30 remained bedridden or severely disabled.
  • Recent studies of the subtypes suggest that type A had a much worse prognosis. The long-term disability rate for type A was 86% and the mortality rate 21%. The figures for type B were 19% and 0% respectively.

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

Further reading & references

  1. Ault J et al, Marchiafava-Bignami Disease, Medscape, Feb 2010
  2. Furukawa K, Maeshima E, Maeshima S, et al; Multiple symptoms of higher brain dysfunction caused by Marchiafava-Bignami Rheumatol Int. 2011 Jan;31(1):109-12. Epub 2009 Oct 22.
  3. Helenius J, Tatlisumak T, Soinne L, et al; Marchiafava-Bignami disease: two cases with favourable outcome. Eur J Neurol. 2001 May;8(3):269-72.
  4. Seneviratne K et al; A Rare Case of Chronic Alcoholism Related Marchiafava-Bignami Disease, Journal of Neurology Research, 2011;1(4):168-169
  5. Marchiafava Bignami disease, Genetic and Rare Diseases Information Center (GARD), 2011
  6. Lee SH, Kim SS, Kim SH, et al; Acute Marchiafava-Bignami disease with selective involvement of the precentral Neurologist. 2011 Jul;17(4):213-7.
  7. Tung CS, Wu SL, Tsou JC, et al; Marchiafava-Bignami disease with widespread lesions and complete recovery. AJNR Am J Neuroradiol. 2010 Sep;31(8):1506-7. Epub 2009 Dec 17.

Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical conditions. EMIS has used all reasonable care in compiling the information but make no warranty as to its accuracy. Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions.

Original Author:
Dr Colin Tidy
Current Version:
Peer Reviewer:
Dr Hannah Gronow
Document ID:
2434 (v22)
Last Checked:
20/02/2012
Next Review:
18/02/2017

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