Rare Nephrology News

Disease Profile

Marchiafava Bignami disease

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Adult

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ICD-10

G37.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

MBD; Chronic Marchiafava-Bignami syndrome; Acute Marchiafava-Bignami disease

Categories

Nervous System Diseases

Summary

Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain).[1][2] The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life.[2][3] Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis, aphasia, abnormal movements, and ataxia may sometimes progress to coma and/or death.[4] The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown. Improvement and recovery of some individuals has been reported.[1][2][3] Treatment focuses on nutritional support and rehabilitation from alcoholism.[2][3]

Symptoms

Most individuals diagnosed with Marchiafava Bignami disease (MBD) have a history of alcoholism and poor nutrition. How onset occurs (suddenly or chronically) and the range of clinical symptoms vary among affected individuals.[2] Generally, the most common presentation includes personality change and psychomotor impairment.[5] Some individuals present to the hospital with sudden onset of stupor or coma, and some present with seizures. Other individuals may have acute, subacute, or chronic onset of dementia and/or gait problems. Psychiatric disturbances, incontinence, hemiparesis, aphasia, and apraxia have also been described.[2]

Cause

The exact cause of Marchiafava Bignami disease is not known. Alcoholism seems to be the greatest risk factor for the disease, although rare cases have occurred in individuals who did not drink alcohol. Nutritional factors have been suspected, but no specific nutrient has been identified.[2] Other possible causes include electrolyte disturbances or direct toxicity of ethanol or other substances.[2][3]

Treatment

In individuals who have recovered from Marchiafava Bignami disease (MBD), it is not clear whether improvement was a result of vitamin supplementation or merely a reflection of the disease's natural history. Treatment should generally focus on nutritional support and rehabilitation from alcoholism (when alcoholism is present).[3] Various treatments, including those typically used for alcoholism in general, have been given to patients with MBD. Some have improved and some have not. The most common treatments are thiamine and other B vitamins (especially vitamin B-12 and folate, which is not a B vitamin but is commonly given with B-12). No specific proven treatment is available.[2] It has been recommended that individuals who survive the disease receive rehabilitation and, if appropriate, alcohol and nutritional counseling.[2]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    In-Depth Information

    • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
    • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
    • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Marchiafava Bignami disease. Click on the link to view a sample search on this topic.

      References

      1. LEE GOLDMAN, DENNIS AUSIELLO. Cecil Medicine, 23rd ed. USA: Saunders Elsevier; 2007;
      2. Jennifer Ault. Marchiafava-Bignami Disease. Medscape Reference. October 6, 2014; https://emedicine.medscape.com/article/1146086-overview#showall.
      3. Walter G. Bradley et al. Neurology in Clinical Practice, 5th ed.. USA: Butterworth-Heinemann; 2008 ;
      4. Saumitra Shankar Nemlekar, Ritambhara Yeshwant Mehta, Kamlesh Rushikray Dave, and Nilima Deepak Shah. Marchiafava: Bignami Disease Treated with Parenteral Thiamine.. Indian J Psychol Med. 2016 Mar-Apr; 38(2):147--149. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4820555/.
      5. Kumar N. Neurologic presentations of nutritional deficiencies. Neurol Clin. February 2010; 28(1):107-170. https://www.ncbi.nlm.nih.gov/pubmed/19932379.

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