Marchiafava-Bignami disease (MBD) is a very rare disorder of demyelination/necrosis of the corpus callosum and the near subcortical white matter that is especially predominant in ill-fed alcoholics. It was discovered in 1903 by Italian pathologists Ettore Marchiafava and Amico Bignami. They described men with alcohol use disorder who died of seizures and coma that presented necrosis of their corpus callosum on autopsy. However, few cases have been described in non-alcoholic patients, suggesting that alcohol is not the sole responsible for these lesions.
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| Marchiafava-Bignami disease |
A, Parasagittal MR T1-weighted image shows multiple areas of decreased signal intensity involving the genu and the anterior aspect of the corpus callosum.
B, MR T2-weighted image corresponding to A shows the lesions to be hyperintense and also some mild atrophy of the involved portions of the corpus callosum.
C, MR Axial T2-weighted image shows a mild degree of periventricular white matter hyperintensity, particularly in the region of the frontal horns of the lateral ventricle.
D, Axial T2-weighted image at the level of the centra semiovale shows a mild degree of periventricular white matter hyperintensities.
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The disease can be acute, subacute, or chronic. The clinical picture is marked by dementia, dysarthria, spasticity, and walking inability. Also, patients may enter into a coma or a demented condition for many years, and spontaneously recover or die.
Lesions can appear as hypodense regions of the corpus callosum on tomography, and as areas of diminished T1 signal and increased T2 signal on magnetic resonance. Also, an interhemispheric disconnection syndrome has been found in survivors. Alcoholic patients without hepatic disease, amnesia, or cognitive dysfunction present thinning of the corpus callosum on autopsy and neuroimaging (magnetic resonance) suggesting that alcohol or malnutrition can commonly damage the corpus callosum without the necrotic lesions of MBD. These findings can conclude in the possibility of aggressive nutritional supplementation with a reduction in drinking to prevent the development of MBD in alcoholic patients.
MBD pathophysiology is unclear. However, there are some explanations for it:
Ethanol is an important risk factor for various brain disorders, depending on the amount and frequency of its use. Alcohol-associated hypovitaminosis, mainly B1 (due to gastrointestinal direct effect, liver damage-induced metabolic disturbance, reduced re-absorption by renal tubular cells, increased skeletal and visceral protein catabolism, abnormal lipid metabolism, or dietary deficiency) and oxidative stress may directly damage the corpus callosum producing an initial phase of cytotoxic edema and breakdown of the blood-brain barrier, and a later phase of focal demyelination and necrosis, consequently resulting in atrophy.
Alcohol alters neurotransmitter activity, disables neuronal plasticity, interferes with lipid metabolism, and influences the expression of proteins responsible for attaching cytoskeletal elements in the white matter. Ethanol can also be metabolized in the central nervous system through an oxidative process by the aldehyde dehydrogenase (ADH) pathway, especially in the cerebellum and hippocampus, using nicotinamide adenine dinucleotide (NAD+) as a cofactor and, thus, resulting in an oxidative stress disorder. Another conversion pathway is through CYP2E1 which, when increased, promotes increases in concentrations of acetaldehyde and reactive oxygen species which in turn lead to oxidative stress and neuronal damage.
B1 vitamin (thiamine) deficiency produces neurological impairment by affecting the carbohydrate metabolism process, reducing the available ATP (adenosine triphosphate), which later induces the inhibition of catechol-O-methyl transferase activity, therefore increasing the activation of catecholamine neurotransmitters such as dopamine, which in turn can result in delirium, hallucinations, and delusions. There is also a reduction in the synthesis of other neurotransmitters such as acetylcholine, glutamate, GABA, which all may be linked to inadequate PHD (pyruvate dehydrogenase) functioning, leading to failure in myelin and glutathione synthesis, therefore impairing the neuronal ability of signal conduction and self-defense against oxidative stress.
Damage of the corpus callosum can be explained because of high myelin content, being the major white matter commissure that connects both of the hemispheres and facilitates the exchange of cognitive, sensory, and motor information.
Ettore Marchiafava (1847 - 1935), Italian physician, pathologist, and neurologist.
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| Ettore Marchiafava |
Ettore Marchiafava was son of Anna Vercelli and Francesco Marchiafava. He was born in Rome, where remained in his native city throughout his long and distinguished career. Marchiafava studied in Rome, obtained his doctorate there in 1872 and was assistant at the chair of pathological-anatomy under Tommasi Crudeli (1834-1900). His ability was early recognized by the award of a gold medal at the completion of his medical course. He became associate professor at the Royal University of Rome in 1881 and in 1836, only thirty-six years of age, he was appointed to the chair of pathological anatomy, the chair having become vacated by Crudeli’s change to the chair of hygiene. He became professor of medicine in 1917, remaining in that position until his retirement in 1921/1922.
The great prevalence of communicable diseases, especially malaria and tuberculosis, exerted a strong influence in determining Marchiafava’s line of research. After obtaining a degree at the University of Rome in 1869, he went for a short period to Berlin, where Koch was making progress in the study of tuberculosis. The young scientist returned to Italy with a strong interest in bacteriology and parasitology.
Marchiafava's spent many years studying the morphology and the biological cycle of the malarial parasite. He showed the modifications that the presence of amoeboid bodies causes in the erythrocytes, and demonstrated that these changes were closely related to the growth and multiplication of the parasites. This demonstration derived from the parallel study of microscopic blood data and the clinical pattern of fever peaks.
The most important result of the research was Marchiafava’s discovery that malarial infection is transmitted through the blood. He spent the entire period from 1880 to 1891 in this intensive study, which enabled him to distinguish between the agent of the estivo-autumnal fever and that of the tertian and quartan fevers. He urged the adoption of antimalarial measures.
In 1884 Marchiafava, in collaboration with Angelo Celli (1857-1914), identified meningococcus as the etiological agent of cerebral and spinal meningitis. Also in 1884, Charles Louis Alphonse Laveran (1845-1922), who found the malaria parasite in 1880, showed his findings to Marchiafava and Angelo Celli who with their powerful immersion microscopes could finally confirm Laveran's theory of an animal parasite, to which they gave the name Plasmodium. The theory was definitely verified by Giovanni Battista Grassi.
Throughout his career Marchiafava maintained an intense interest in diseases of the nervous system, both infectious and degenerative, Among his early contributions to this field was the first description of syphilitic cerebral arteritis. In 1897 he first observed primary degeneration of the corpus callosum in the brain of an alcoholic patient, and in 1903, with Bignami, published a definitive account of the disorder, now known as Marchiafava's disease or Marchiafava-Bignami disease.
A pioneer in the field of cardiac pathology, Marchiafava showed the importance of coronary sclerosis in the pathogenesis of cardiac infarction and suggested the use of theobromine as a treatment for this disease. Early in his career he made other important studies that showed the bacterial nature of endocardial ulcers. He also did research on angiotic obliteration in interstitial inflammations and particularly in tuberculosis and examined in detail the structural modifications occurring where the bronchi join the lungs, as well as the clinical epidemiology of the disease. On kidney pathology he studied and described glomerulonephritis related to infections such as scarlet fever.
Marchiafava established the life cycle of Plasmodium falciparum as well as differentiating the three types of malarial parasites: tertial, quartan and aestino-autumnal. He published an editorial on the effects of alcohol on the brain and gave the first description of syphilitic cerebral arteritis. Personal physician to three Popes and the House of Savoy, he won the Manson Medal for his research in tropical medicine. He was a highly successful medical practitioner and a very modest and cultured man.
Besides his investigative work, Marchiafava was a busy and highly successful practitioner of internal medicine. He was the personal physician of three popes and of the house of Savoy. Of the many honours which Marchiafava received, he valued most his appointment as Senator of the Realm in 1913 and the award of the Manson medal in 1926.
In 1916 he succeeded Baccellis in the chair of clinical medicine in Rome, and retired in 1921. After his official retirement in 1922 he continued his research and writing in the department he had helped organize.
Amico Bignami (1862-1919), Italian pathologist.
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| Amico Bignami |
Amico Bignami graduated in Rome in 1882. He first worked in Rome as professor incaric, and for some years was assistant to Tommasi Crudelli in pathology. In 1883 he was appointed professor extraordinary of pathology, and in 1906 became full professor at the Royal University of Rome. In 1917 he was appointed professor of medicine, holding that position until his retirement in 1921. From 1896 he was primary physician at the Ospedale riuniti di Roma.
Bignami's scientific works concern the pathological anatomy of the brain, acromegaly, the leukaemic diseases, but his particular interest was in malaria research. In 1896 he put forth the hypothesis of infection by mosquitoes and attempted to prove the mosquito theory in man. Bignami had captured mosquitoes from regions with a high incidence of malaria and allowed them to bite healthy human beings. But like Ronald Ross in his early work, Bignami failed to appreciate that only one type of mosquito could transmit human malaria.
The next year, however, Sir Ronald Ross (1857-1932), a British Major in the Indian Medical Service, demonstrated the transmission of malaria by mosquitoes in an avian model. His experiments confirmed the ‘mosquito theory’ of malaria In 1898, Bignami, Giovanni Battista Grassi (1854-1925) and Giuseppe Bastianelli (1862-1959) first infected humans with malaria by mosquitoes. In this experiment Bignami produced malaria in himself, allowing an infected mosquito to bite him. On 28 November 1898 these observers were able to report to the Accademia dei Lincei their demonstration of the development of human malaria parasites on the gut wall of Anopheles claviger. This Italian group of investigators thus proved that the that mosquitoes of the genus Anopheles are the vector for human malaria.
In May 1919 Bignami, an agnostic, was called upon to study the wounds of Padre Pio, a priest who had had visions and found visible stigmata on his hands, feet, and side. In his report, Bignami characterized the wounds as "a necrosis of the epidermis of neurotic origin." He considered their symmetrical arrangement to be caused by "unconscious suggestion."
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