Marchiafava–Bignami disease is a progressive neurological disease of

alcohol use disorder Alcoholism is, broadly, any drinking of alcohol that results in significant mental or physical health problems. Because there is disagreement on the definition of the word ''alcoholism'', it is not a recognized diagnostic entity. Predomin ...

, characterized by

corpus callosum The corpus callosum (Latin for "tough body"), also callosal commissure, is a wide, thick nerve tract, consisting of a flat bundle of commissural fibers, beneath the cerebral cortex in the brain. The corpus callosum is only found in placental m ...

demyelination A demyelinating disease is any disease of the nervous system in which the myelin sheath of neurons is damaged. This damage impairs the conduction of signals in the affected nerves. In turn, the reduction in conduction ability causes deficiency i ...

and

necrosis Necrosis () is a form of cell injury which results in the premature death of cells in living tissue by autolysis. Necrosis is caused by factors external to the cell or tissue, such as infection, or trauma which result in the unregulated diges ...

and subsequent atrophy. The disease was first described in 1903 by the Italian pathologists

Amico Bignami Amico Bignami (15 April 1862 – 8 September 1929) was an Italian physician, pathologist, malariologist and sceptic. He was professor of pathology at Sapienza University of Rome. His most important scientific contribution was in the discovery of ...

and

Ettore Marchiafava Ettore Marchiafava (3 January 1847 – 22 October 1935) was an Italian physician, pathologist and neurologist. He spent most of his career as professor of medicine at the University of Rome (now Sapienza Università di Roma). His works on malar ...

in an Italian

Chianti A Chianti wine (, also , ) is any wine produced in the Chianti region of central Tuscany. It was historically associated with a squat bottle enclosed in a straw basket, called a ''fiasco'' ("flask"; ''pl. fiaschi''). However, the ''fiasco'' is ...

drinker.E. Marchiafava, A. Bignami. Sopra un'alterazione del corpo calloso osservata da sogetti alcoolisti. Rivista di patologia nervosa e mentale, 1903, 8 (12): 544–549. In this autopsy, Marchiafava and Bignami noticed that the middle two-thirds of the corpus callosum were necrotic. It is very difficult to diagnose and there is no specific treatment. Until 2008 only around 300 cases had been reported. If caught early enough, most patients survive.

Symptoms and signs

Symptoms can include, but are not limited to lack of consciousness, aggression,

seizures An epileptic seizure, informally known as a seizure, is a period of symptoms due to abnormally excessive or synchronous neuronal activity in the brain. Outward effects vary from uncontrolled shaking movements involving much of the body with lo ...

, depression,

hemiparesis Hemiparesis, or unilateral paresis, is weakness of one entire side of the body ('' hemi-'' means "half"). Hemiplegia is, in its most severe form, complete paralysis of half of the body. Hemiparesis and hemiplegia can be caused by different med ...

ataxia Ataxia is a neurological sign consisting of lack of voluntary coordination of muscle movements that can include gait abnormality, speech changes, and abnormalities in eye movements. Ataxia is a clinical manifestation indicating dysfunction of ...

apraxia Apraxia is a motor disorder caused by damage to the brain (specifically the posterior parietal cortex or corpus callosum), which causes difficulty with motor planning to perform tasks or movements. The nature of the damage determines the disorde ...

coma A coma is a deep state of prolonged unconsciousness in which a person cannot be awakened, fails to respond normally to painful stimuli, light, or sound, lacks a normal wake-sleep cycle and does not initiate voluntary actions. Coma patients exhi ...

, etc. There will also be lesions in the corpus callosum.

Causes

It is classically associated with chronic

alcoholism Alcoholism is, broadly, any drinking of alcohol that results in significant mental or physical health problems. Because there is disagreement on the definition of the word ''alcoholism'', it is not a recognized diagnostic entity. Predomi ...

especially with

red wine Red wine is a type of wine made from dark-colored grape varieties. The color of the wine can range from intense violet, typical of young wines, through to brick red for mature wines and brown for older red wines. The juice from most purple gr ...

consumption and sometimes associated

nutritional deficiencies Malnutrition occurs when an organism gets too few or too many nutrients, resulting in health problems. Specifically, it is "a deficiency, excess, or imbalance of energy, protein and other nutrients" which adversely affects the body's tissues ...

. Alcohol use disorder can also cause

thiamine deficiency Thiamine deficiency is a medical condition of low levels of thiamine (Vitamin B1). A severe and chronic form is known as beriberi. The two main types in adults are wet beriberi and dry beriberi. Wet beriberi affects the cardiovascular system, r ...

, which is also observed to cause MBD.

Mechanism

Individuals with MBD usually have a history of excessive alcohol consumption, but this is not always the case. The mechanism of the disease is not completely understood, but it is believed to be caused by a

Vitamin B B vitamins are a class of water-soluble vitamins that play important roles in cell metabolism and synthesis of red blood cells. Though these vitamins share similar names (B1, B2, B3, etc.), they are chemically distinct compounds that often coex ...

deficiency, malnutrition, or alcohol use disorder.YONGJIAN, C., LEI, Z., XIAOLI, W., WEIWEN, Z., DONGCAI, Y., & YAN, W. (2015). Marchiafava-Bignami disease with rare etiology: A case report. ''Experimental & Therapeutic Medicine'', ''9''(4), 1515-1517. doi:10.3892/etm.2015.2263 The damage to the brain can extend into neighboring

white matter White matter refers to areas of the central nervous system (CNS) that are mainly made up of myelinated axons, also called tracts. Long thought to be passive tissue, white matter affects learning and brain functions, modulating the distribu ...

and sometimes go out as far as subcortical regions.

Diagnosis

Marchiafava–Bignami disease is routinely diagnosed with the use of an MRI because the majority of clinical symptoms are non-specific. Before the use of such imaging equipment, it was unable to be diagnosed until autopsy. The patient usually has a history of alcohol use disorder or malnutrition and neurological symptoms are sometimes present and can help lead to a diagnosis. MBD can be told apart from other neural diseases due to the symmetry of the lesions in the corpus callosum as well as the fact that these lesions don't affect the upper and lower edges.Raina, Sujeet & M Mahesh, D & Mahajan, J & S Kaushal, S & Gupta, D & Dhiman, Dalip. (2008). MarchiafavaBignami Disease. The Journal of the Association of Physicians of India. 56. 633-5. There are two clinical subtypes of MBD Type A- Stupor and coma predominate. Radiological imaging shows involvement of the entire corpus callosum. This type is also associated with symptoms of the upper motor neurons. Type B- This type has normal or only mildly impaired mental status and radiologic imaging shows partial lesions in the corpus callosum.

Treatment

Treatment is variable depending on individuals. Some treatments work extremely well with some patients and not at all with others. Some treatments include therapy with thiamine and vitamin B complex. Alcohol consumption should be stopped. Some patients survive, but with residual brain damage and dementia. Others remain in comas that eventually lead to death. Nutritional counseling is also recommended. Treatment is often similar to those administered for Wenicke-Korsakoff syndrome or for alcohol use disorder.Parmanand H. T. Marchiafava–Bignami disease in chronic alcoholic patient. ''Radiology Case Reports''. 2016;11(3):234-237. doi:10.1016/j.radcr.2016.05.015. Type A has 21% mortality rate and an 81% long-term disability rate. Type B has a 0% mortality rate and a 19% long-term disability rate.

Recent Research

In a study published in 2015, a patient was observed to have MBD, but no history of excessive alcohol use. It is believed that he had protein, folic acid, and thiamine deficiencies, which are what caused the demyelination of the corpus callosum. The patient was diagnosed through MRI, but countless other neurological diseases needed to be ruled out initially. In a study published in 2016, a 45-year-old patient was observed to have taken high amounts of alcohol intake over 20 years and was malnourished. He was diagnosed with liver cirrhosis. He was confused and had a lack of motor coordination. He also had altered sensorium and seizures. An MRI was performed and the patient was diagnosed with MBD.

References

External links

MedPix

eMedicine overview
{{DEFAULTSORT:Marchiafava-Bignami disease Alcohol and health Corpus callosum Demyelinating diseases of CNS Syndromes affecting the nervous system