Original history of the deficiency diseases of the nervous system. Marchiafava bignami disease genetic and rare diseases. Because clinical signs are nonspecific, the role of computed. However, with the advent of mri, more and more of these cases are being diagnosed. Cortical involvement in marchiafava bignami disease. Ppiinniioonn1440 north chase street athens, ga 30601 return. A 50yearold chronic alcoholic presented to the emergency room with history of 3 episodes of seizures 2 days earlier. Primary degeneration of the corpus callosum marchiafavabignami. The second case of marchiafava bignami syndrome in central europe is reported of a 44yearold man, chronic drinker of regional wines with characteristic terminal clinical picture. Mbd in nonalcoholics without malnutrition has rarely been reported. Original history of the deficiency diseases of the nervous. Only about 200 cases have been reported in the medical literature. Pdf marchiafavabignami is a rare toxic disease associated with chronic alcohol intake and characterized by progressive demyelination and. A rare clinical dilemma nitesh pansari 1, ravi goyal, manish aswani 1, shruti agrawal, heeralal verma 2, hemant mahur3, mahesh dave4 introduction m archiafavabignami disease mbdaggressive and irritable during the is a progressive neurological disease, characterized by corpus callosal.
Marchiafavabignami disease is a progressive neurological disease of alcoholism, characterized by corpus callosum demyelination and necrosis and subsequent atrophy. Prior to this, there was no history of alcohol abuse which would have made marchiafava bignami syndrome unlikely. Transcranial magnetic stimulation shows impaired transcallosal inhibition in marchiafavabignami syndrome. We report a 51yearold man with chronic alcoholism and malnutrition who.
Occurs predominantly in those with chronic alcoholism, particularly wine drinkers. Similar to wernickekorsakoff syndrome, this condition is caused by a vitamin b1 deficiency, and the treatment is based on nutritional. Marchiafavabignami disease mimics motor neuron disease. Case report marchiafavabignami disease with widespread lesions and complete recovery c. Background and purpose rapidly progressive dementia rpd is an emergency in cognitive neurology, defined as cognitive impairment affecting the daily living activities developed over less than 1 year. In 1903, italian pathologists marchiafava and bignami described 3 alcoholic men who died after having seizures and coma. Marchiafavabignami syndrome definition of marchiafava.
Pdf on may 16, 2018, hiroki matsuura and others published marchiafava bignami disease find, read and cite all the research you need on. University of oklahoma college of medicine curriculum vitae bhrugav gautam raval, md assistant professor, department of neurology williams pavilion, g. Marchiafava bignami disease mbd associated with chronic alcoholism is a fatal disorder characterized by demyelination of the corpus callosum. Subsequent history obtained of the patient, confirmed the presence of a period of severe binge drinking while depressed. A nonalcoholic japanese patient with wernickes encephalopathy and marchiafavabignami disease. Mbd is a rare disorder strongly associated with alcoholism. Marchiafava bignami disease statpearls ncbi bookshelf. It is a progressive neurological disease most frequently seen in middleaged or elderly alcoholic males. Marchiafavabignami disease mbd is a very rare disorder that was first. Marchiafava bignami disease with widespread lesions and complete recovery. Magnetic resonance imaging in marchiafavabignami syndrome. Wernickes syndrome korsakoffs amnestic syndrome cerebellar degeneration stroke hemorrhagic, ischemic marchiafavabignami corpus callosum confusion, language, dementia, seizures breast cancer depression. Marchiafava bignami disease is a progressive neurological disease of alcoholism, characterized by corpus callosum demyelination and necrosis and subsequent atrophy. Marchiafavabignami disease a progressive neurological syndrome is a rare condition seen in chronic alcoholics.
Dec 05, 2012 marchiafava bignami disease mbd is characterized by primary degeneration of the corpus callosum associated with chronic alcohol consumption. The tempo of onset and the range of clinical symptoms vary. The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Feb 20, 2012 marchiafava bignami disease, genetic and rare diseases information center gard, 2011. Currently at least three different kinds are proposed based on the presence of autoantibodies thought to produce the disease.
Marchiafavabignami disease mbd, a rare disorder most commonly seen in patients with a history of alcohol consumption, involves progressive demyelination and subsequent necrosis of the corpus callosum. Aug 14, 2016 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. Early symptoms may include depression, paranoia, psychosis, or dementia. Marchiafavabignami disease definition of marchiafava. Intermediate syndrome 449 diagnosis, treatment of opc poisoning 450 oximes 450, 451 carbamates 451, 452 organochlorines 452 endrine 453 paraquat 453 pyrethrins and pyrethroids 454 zinc phosphide 454 aluminium phosphide 455, 456 7. Marchiafava bignami disease a condition that occurs in chronic alcoholics, clinically characterised by progressive neurological disease and histologically characterised by corpus callosum demyelination, necrosis and atrophy. History of the deficiency diseases of the nervous system 159 a toxic aetiology led korsakoff to name it toxaemic cerebropathy. Marchiafavabignami disease mbd was originally described as a rare, fatal disease affecting wine drinkers. Wernickekorsakoff syndrome in established or suspected wernickekorsakoff syndrome, two pairs of pabrinex iv ampoules should be given three times daily for 2 days, followed by one pair of pabrinex iv or v im ampoules daily for 5 days if there is a m response. Generally, the most common presentation includes personality change and psychomotor impairment. Marchiafava bignami disease mbd was originally described as a rare, fatal disease affecting wine drinkers. It is seen most often in patients with chronic alcoholism.
Oct 12, 2016 marchiafava bignami disease mbd is a rare condition characterized by demyelination of the corpus callosum. Most patients diagnosed with marchiafavabignami disease mbd have a history of alcoholism and poor nutrition. Marchiafavabignami disease triggered by poorly controlled diabetes mellitus. The disease was first described in 1903 by the italian pathologists amico bignami and ettore marchiafava in an italian chianti drinker.
Objective marchiafava bignami disease mbd is a rare condition mainly associated with alcoholism, although it may be mimicked by several other disorders that cause corpus callosum lesions. Neuromyelitis optica nmo is a heterogeneous condition consisting of the inflammation and demyelination of the optic nerve optic neuritis and the spinal cord. How onset occurs suddenly or chronically and the range of clinical symptoms vary among affected individuals. Some patients present to the hospital with sudden onset of stupor or coma, and some present with seizures. The syndrome is named after the two people who first described the conditions. A case report find, read and cite all the research you need on researchgate. Marchiafavabignami disease mbd is characterized by primary degeneration of the corpus callosum associated with chronic alcohol consumption. The process may extend laterally into the neighboring white matter and occasionally as far as the subcortical regions.
The pathological findings were symmetric necrosis of the middle laminae of the corpus callosum and signs of general lesion of the bloodbrainbarrier, the. Neuromyelitis optica nmo is a heterogeneous condition consisting of the inflammation and demyelination of the optic nerve optic neuritis and the spinal cord myelitis. Cranial ct performed when she was admitted to the hospital was normal. Marchiafava bignami disease with widespread lesions and complete recovery c. Methods retrospective case analysis was done in 187 patients with rapidly progressive. Various reversible neurologic symptoms are found in patients with mbd. A 43 year old man presents because he bumped his head after slipping and falling. Refractory nonconvulsive status epilepticus with favorable outcome in a patient with marchiafavabignami disease ryul kim, a heejin cho, b howon lee, b, c and jinsun jun a, d a department of neurology, seoul national university hospital, seoul, korea b department of neurology, school of medicine, kyungpook national university, kyungpook national university chilgok hospital, daegu, korea. A progressive neurological disease most frequently seen in middleaged or elderly alcoholic males but also affecting some nonalcoholic subjects. Rivista di patologia nervosa e mentale, 1903, 8 12. The syndrome is made up of two separate, but related disorders. Other articles where marchiafavabignami disease is discussed. Ppiinniioonn1440 north chase street athens, ga 30601. Diagnosis and management of marchiafavabignami disease.
Diffuse hyperintensity was seen limited to the central region of the corpus callosum bilaterally at the sections of t2 weighted cranial mri performed after 10 days. Dysarthria and dysphagia are found in various neurological diseases. The importance of brain mri in the diagnosis of marchiafava. Marchiafavabignami disease mahrkeafahvah benyahme, a disorder recognized primarily by its pathologic features, consisting of demyelination of the corpus callosum and cortical laminar necrosis involving the frontal and temporal lobes. Marchiafavabignamis disease, as etiologic diagnosis of athetosis. Marchiafavabignami disease with widespread case report. Dec 21, 20 marchiafava bignami disease mbd is a rare neurologic complication of chronic alcohol consumption that is characterized by callosal lesions involving demyelination and necrosis. Most patients diagnosed with marchiafava bignami disease mbd have a history of alcoholism and poor nutrition. Marchiafavabignami disease triggered by poorly controlled. Marchiafavabignami disease mbd is a rare neurological disorder mostly seen in alcoholic and malnourished patients with a pathognomonic hallmark of corpus callosum demyelination. In my own inaugural case report mentioned above, my teacher jurgen peiver and i, hypothesized that the pleomorphic xanthoastrocytoma is not a glial tumor and we argued that the two eminent neuropathologists john. Marchiafavabignami disease mbd is a rare condition characterized by demyelination of the corpus callosum. Marchiafava bignami disease mbd is a rare neurological disorder mostly seen in alcoholic and malnourished patients with a pathognomonic hallmark of corpus callosum demyelination.
Vinken pj, bruyn gw eds handbook of clinical neurology, vol 28. Thus, it becomes essential for a radiologist to be familiar with its imaging features as well as clinical presentation. The marchiafavabignami disease, characterized by demyelination and. Marchiafava bignami is a rare toxic disease seen mostly in chronic alcoholics that results in progressive demyelination and necrosis of the corpus callosum. Marchiafavabignami disease mbd is a rare neurologic complication of chronic alcohol consumption that is characterized by callosal lesions involving demyelination and necrosis.
A l c o h o l c o n c e r n wernickekorsakoffs syndrome. Structural mri studies have shown that subcortical and brainstem structures known to be affected in severe neurological syndromes such as marchiafava bignami disease, 5 central pontine myelinolysis, alcoholic cerebellar degeneration, and korsakoffs syndrome, which are all associated with excessive alcohol consumption or associated nutritional deficiency, also are affected in patients with. The patient received treatment with intravenous thiamine 300mgday for 3. Kosaka k, aoki m, kawasaki n, adachi y, konuma i, iizuka r. A rare clinical dilemma nitesh pansari 1, ravi goyal, manish aswani 1, shruti agrawal, heeralal verma 2, hemant mahur3, mahesh dave4 introduction m archiafavabignami disease mbdaggressive and irritable during the is a. Objective marchiafavabignami disease mbd is a rare condition mainly associated with alcoholism, although it may be mimicked by several other disorders that cause corpus callosum lesions. The majority of patients have complete resolution of brain mri. The second case of marchiafavabignamisyndrome in central europe is reported of a 44yearold man, chronic drinker of regional wines with characteristic terminal clinical picture.
Pdf marchiafava bignami disease is the symmetrical demyelination of the middle portion of the corpus callosum observed in people with chronic. Pdf on jan 1, 2010, santosh b murthy and others published marchiafavabignami disease mbd in a nonalcoholic patient. Our objective was to identify helpful features for differential diagnosis and assess whether any treatment can be recommended. Marchiafava bignami disease typically begins in the body of the corpus callosum and later involves the genu and then splenium 2. Marchiafavabignami disease in a nonalcoholic diabetic patient. It classically involves the central layers with relative sparing of the dorsal and ventral extremes which may be seen as a sandwich sign on sagittal mri imaging. We report a 51yearold man with chronic alcoholism and malnutrition. Characterized by demyelination and necrosis of the corpus callosum, it has long been considered to be of either a toxic or nutritional etiology. Transcranial magnetic stimulation shows impaired transcallosal inhibition in marchiafava bignami syndrome. We report a case of mbd in a diabetic patient, without alcoholism or malnutrition, caused by a wide range of glycemic level fluctuations. In this autopsy, marchiafava and bignami noticed that the middle twothirds of the corpus callosum were necrotic. Objective marchiafavabignami disease mbd is a rare condition mainly. The main symptoms are fits, stupor, coma and dementia. Cortical involvement in marchiafavabignami disease.
A reversible isolated lesion in the splenium of corpus. Several mr findings have shown lesions not only in the corpus callosum but also in the hemispheric white matter. From research to practice richard saitz md, mph, facp, fasam. Fahd ali alkhamis imam abdulrahman bin faisal university. This study investigated the profile of patients with rapidly progressive dementia at first presentation. In some diseases, cc involvement is typical and sometimes isolated, while in other diseases cc lesions are seen only occasionally in the presence of other typical extracallosal abnormalities.
Due to demyelination of the corpus callosum and cortical laminar. Marchiafavabignami disease was first described in 1903 by 2. However, it can occur in patients who do not use alcohol. 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. The syndrome was first described by marchiafava and bignami two italian pathologists in 1903.
Marchiafavabignami disease radiology reference article. Other brain damage occasionally reported in alcoholics includes cortical laminar sclerosis, cerebellar degeneration. Paulo eduardo mestrinelli carrilho1 marchiafavabignami. It is diagnosed by the imaging of demyelination at the corpus callosum with mri. Mbd presents with impaired consciousness and multifocal nonspecific neurological deficits. Nutritional encephalopathies, including the thiamineresponsive wernickekorsakoff syndrome. Acute marchiafava bignami disease with selective involvement of the precentral neurologist. Northholland publishing company, amsterdam new york oxford, pp. Pdf marchiafavabignami disease mbd in a nonalcoholic. Pontes cm, neurology department, hospital federal dos servidores do estado, rua sacadura cabral n. Marchiafavabignami syndrome mbd is a progressive neurological.
Marchiafavabignami disease mbd is a rare form of toxic demyelination of the corpus callosum associated with chronic alcoholic consumption. Lesions of the corpus callosum cc are seen in a multitude of disorders including vascular diseases, metabolic disorders, tumours, demyelinating diseases, trauma and infections. It is characterized pathologically by demyelination and necrosis of the corpus callosum. In patients with hyperchloremic nongap metabolic acidosis with previous exposure to ifosfamide further workup is indicated to rule out fanconi s syndrome.