Clinical analysis of Marchiafava-Bignami disease.

BACKGROUND: Marchiafava-Bignami disease (MBD) is an exceptionally rare condition, a fact that should pique the professional curiosity of medical practitioners. In recent years, case reports of this disease have been infrequent, and no comprehensive analysis or summary of the characteristics of the published cases has been conducted. METHODS: We collected the medical records of three patients treated at our hospital from March 2022 to March 2023. Furthermore, we searched PubMed for "case reports" from January 2017 to March 2023 and included 30 cases. By retrospectively analyzing these 33 cases, we summarized the characteristics of the disease. RESULTS: Based on our analysis, we found that MBD primarily affects middle-aged men and typically has an acute or subacute onset, with the primary clinical manifestations being disturbances of consciousness, speech disorders, cognitive impairment, and psychiatric or behavioral abnormalities, often leading to misdiagnosis of psychiatric disorders. Most patients have a history of alcohol consumption or malnutrition. Head CT or MRI revealed symmetric lesions in the corpus callosum, with the splenium being the most commonly affected area. Lesions might also involve white matter outside the corpus callosum, and a wider range of lesions suggested a poor prognosis. However, the prognosis is generally favorable with timely and adequate administration of B vitamins, providing reassurance to medical professionals and patients alike. CONCLUSION: The early recognition and treatment of Marchiafava-Bignami disease are paramount, as they can significantly improve the prognosis. This underscores the critical need for prompt clinical intervention in the early stages of the disease, instilling a sense of urgency and significance in the work of medical professionals.

Marchiafava-Bignami disease(MBD) involving bilateral handknob area: neuroimages.

Marchiafava-Bignami disease (MBD) is a metabolic disease of the nervous system. It mainly involves the Corpus callosum, but the handknob area is rarely involved. This article reports a MBD case involving the bilateral handknob area. The involvement of the bilateral handknob area contributes to the clinical presentation of convulsions of both hands. Through this case, more clinicians realize the bilateral handknob area involvement in MBD, which is helpful for the identification and diagnosis of MBD. To our knowledge, this is the first report on MBD involving the bilateral handknob area.

Marchiafava-Bignami disease: why not Marchiafava-Bignami-Carducci disease?

The Marchiafava-Bignami disease has a curious backstory, namely, the publication in 1898 of the Contribution to the Study of Nonsuppurative Encephalitis (Carducci A in Riv Psicol Psichiat Neuropat 8-9:125-135, 1898), in which the neo-graduate Agostino Carducci described the disease that the pathologists Ettore Marchiafava and Amico Bignami would report 5 years later.

Detection of Marchiafava Bignami disease using distinct deep learning techniques in medical diagnostics.

PURPOSE: To detect the Marchiafava Bignami Disease (MBD) using a distinct deep learning technique. BACKGROUND: Advanced deep learning methods are becoming more crucial in contemporary medical diagnostics, particularly for detecting intricate and uncommon neurological illnesses such as MBD. This rare neurodegenerative disorder, sometimes associated with persistent alcoholism, is characterized by the loss of myelin or tissue death in the corpus callosum. It poses significant diagnostic difficulties owing to its infrequency and the subtle signs it exhibits in its first stages, both clinically and on radiological scans. METHODS: The novel method of Variational Autoencoders (VAEs) in conjunction with attention mechanisms is used to identify MBD peculiar diseases accurately. VAEs are well-known for their proficiency in unsupervised learning and anomaly detection. They excel at analyzing extensive brain imaging datasets to uncover subtle patterns and abnormalities that traditional diagnostic approaches may overlook, especially those related to specific diseases. The use of attention mechanisms enhances this technique, enabling the model to concentrate on the most crucial elements of the imaging data, similar to the discerning observation of a skilled radiologist. Thus, we utilized the VAE with attention mechanisms in this study to detect MBD. Such a combination enables the prompt identification of MBD and assists in formulating more customized and efficient treatment strategies. RESULTS: A significant breakthrough in this field is the creation of a VAE equipped with attention mechanisms, which has shown outstanding performance by achieving accuracy rates of over 90% in accurately differentiating MBD from other neurodegenerative disorders. CONCLUSION: This model, which underwent training using a diverse range of MRI images, has shown a notable level of sensitivity and specificity, significantly minimizing the frequency of false positive results and strengthening the confidence and dependability of these sophisticated automated diagnostic tools.

A case of Marchiafava Bignami disease presenting as a cerebrovascular accident.

Marchiafava Bignami Disease (MBD) is a reversible neurological disorder with can be difficult to diagnose initially due to variable neurological presentations that can be seen in patients. Physicians need to consider this diagnosis as the readily available treatment of thiamine can help reverse symptoms and prevent long lasting effects. We present the case of a 52-year-old man with a history of alcohol use disorder who presented with concerns for a cerebrovascular accident. The patient had neurological signs that were vague and included intermittent confusion, subtle droop to the lower lip, and ataxia in their limbs. MRI revealed restricted diffusion in the corpus callosum which helped confirm the diagnosis of MBD. Treatment with thiamine helped the patient get back to their usual state of health with no new neurological deficits. This case emphasizes that MBD is a rare neurological disorder that must be considered in patients with alcohol use disorder who present with varying neurological symptoms as early thiamine treatment can reverse symptoms.

Analysis of 21 Patients With Alcoholic Marchiafava-Bignami Disease in Chongqing, China.

OBJECTIVE: This study aimed to investigate the characteristics and prognosis of patients with alcoholic Marchiafava-Bignami disease (MBD), a rare neurological disorder commonly associated with chronic alcoholism, in Chongqing, China. METHODS: We conducted a retrospective analysis of clinical data from 21 alcoholic MBD patients treated at the First Affiliated Hospital of Chongqing University between 2012 and 2022. RESULTS: The study included 21 patients with alcoholic MBD who had a mean age of 59 ± 9.86 years and an average drinking history of 35.48 ± 8.65 years. Acute onset was observed in 14 (66.7%) patients. The primary clinical signs observed were psychiatric disorders (66.7%), altered consciousness (61.9%), cognitive disorders (61.9%), and seizures (42.9%). Magnetic resonance imaging revealed long T1 and long T2 signal changes in the corpus callosum, with lesions predominantly found in the genu (76.2%) and splenium (71.4%) of the corpus callosum. The poor prognosis group demonstrated an increased incidence of altered consciousness (100% vs 50%, P = 0.044), pyramidal signs (80% vs 18.8%, P = 0.011), and pneumonia (100% vs 31.3%, P = 0.007). Patients with a longer drinking history (45.0 ± 10.0 years vs 32.69 ± 5.99 years, p = 0.008) and a lower thiamine dose (p = 0.035) had a poorer prognosis at 1 year. CONCLUSIONS: This study identified altered consciousness, pyramidal signs, and pneumonia as predictors of a poor prognosis in patients with alcoholic MBD. A longer duration of alcohol consumption and inadequate thiamine supplementation were associated with a poorer prognosis.

Diverse MRI findings and clinical outcomes of acute Marchiafava-Bignami disease.

BACKGROUND: The acute onset of Marchiafava-Bignami disease (MBD) is difficult to capture, and its clinical manifestations are overlapped. Magnetic resonance imaging (MRI) is very useful in the diagnosis of acute MBD. PURPOSE: To investigate the MRI features and clinical outcomes of acute MBD. MATERIALS AND METHODS: Sagittal T2-weighted (T2W) or T1-weighted (T1W) imaging, axial T1W and T2W imaging, and axial FLAIR and diffusion-weighted imaging (DWI) sequences were performed in 17 patients with acute MBD on 1.5-T MR. According to the different ranges of callosal restricted diffusion, MBD was divided into Type I (n = 7, the completely involved), Type II (n = 5, the mostly involved), and Type III (n = 5, the partly involved). The MRI findings and outcomes of each type were retrospectively analyzed. RESULTS: With the reduced range of the callosal restricted diffusion, the callosal atrophy or cavitation was more common: no case of Type I; 1 (20%) case of Type II; and 3 (60%) cases of Type III. With the increased range of callosal restricted diffusion, the extracallosal involvement was more common: 6 (86%) cases of Type I; 3 (60%) cases of Type II; and 1 (20%) case of Type III. During the follow-up, five cases had neuropsychiatric sequelae: 1 (14%) case of type I; 1 (20%) case of Type II; 3 (60%) cases of Type III. CONCLUSION: The MRI findings and clinical outcomes of acute MBD are regular. The extensive restricted diffusion of acute MBD may present the curable condition. Callosal heterogeneity may affect the outcome of acute MBD.

Marchiafava-Bignami disease: Report of three cases.

Marchiafava-Bignami disease (MBD) is a rare alcohol-associated disorder characterized by demyelination and necrosis of the corpus callosum. We report three patients who had history of chronic alcoholism, different clinical presentation and MRI findings consistent with the diagnosis of Marchiafava-Bignami disease.

Fatal serotonin syndrome in a patient with Marchiafava-Bignami disease: Combined neurological and psychiatric emergency.

Marchiafava-Bignami disease (MBD) is a rare fatal neurological disorder characterized by demyelination, primary degeneration, and necrosis of the corpus callosum. Although MBD is mostly associated with chronic alcohol consumption and malnutrition, it has been reported in non-alcoholic patients. Serotonin syndrome is a rare but potentially fatal side effect of antidepressants that results from overstimulation of both central and peripheral serotonergic receptors. In this report, we present a case with fatal serotonin syndrome happening in a non-alcoholic patient with the chronic form of MBD. To our knowledge, this case is the first report of fatal serotonin syndrome due to citalopram in an MBD patient. The present report may indicate that citalopram and other SSRIs should not be used in patients with MBD. Our case is also among few reported cases in the literature where no cause was identified in a patient with no previous history of alcohol intake.

Vegetarian diet and excessive tea consumption: a dangerous association?

Rare metabolic diseases may sometimes arise acutely and endanger human life if not immediately recognized and treated. Marchiafava Bignami disease is an uncommon neurologic disorder described in alcohol abusers and characterized by an acute severe damage of brain white matter. Even more rarely, it has been reported in non-alcohol addicted patients, but never in vegetarian people. This is a case report of a young vegetarian woman, accustomed to drink high amounts of tea, who, three weeks after her first natural childbirth, developed serious motor and cognitive disturbances. A timely brain magnetic resonance (MR) allowed us to identify Marchiafava Bignami disease and she healed few hours after the administration of parenteral steroids and vitamins. We advise to suspect Marchiafava Bignami Disease in all patients presenting with non-obvious acute generalized motor and cognitive disturbances, also if non alcoholics, and to collect the nutritional habits in all patients with suspected symptoms. In these cases a timely brain MRI is warranted, since brain imaging is typical and patients may recover after a prompt treatment.

Mutism Caused by Severe Demyelination in a Patient With Marchiafava-Bignami Disease.

BACKGROUND: Marchiafava-Bignami (MB) disease is a rare disorder that causes primary degeneration of the corpus callosum. It is associated with chronic alcohol consumption caused by either a toxic or nutritional etiology. CASE REPORT: We report a case of a 54-year-old woman who presented to our emergency department with complete mutism caused by MB disease that completely resolved with intravenous thiamine and dextrose therapy. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Emergency physicians frequently encounter patients with alcohol abuse and its complications. We report a rare presentation of a potential alcohol-related spectrum disease that may be encountered by an emergency physician. Early diagnosis and prompt management are critical to potentially reversing the disease, and this case shows the importance of including this disease in the differential diagnosis in patients with speech difficulty and alcohol abuse.

Acute alcohol intoxication presenting acquired lesion of the corpus callosum in a young healthy woman: A case of possible Marchiafava-Bignami disease.

Background: Marchiafava-Bignami disease is a rare neurological disease characterized by acquired lesions of the corpus callosum. Although the major causative etiology is chronic alcoholism, a case caused by acute alcohol intoxication has not yet been reported. Case Presentation: A 19-year-old female with no known medical history or a history of chronic alcohol consumption was brought to the emergency department in a coma after binge alcohol consumption. Even after an overnight observation, she remained comatose. After a thorough examination including magnetic resonance imaging, which showed lesions of the corpus callosum, she was treated with thiamine for Marchiafava-Bignami disease. She recovered completely and at the follow-up, the callosum lesion had resolved. Conclusion: This is a rare case within the spectrum of Marchiafava-Bignami disease caused by acute consumption of alcohol. Clinicians should be aware of this potentially devastating critical condition among patients with severe alcohol intoxication, which might have been overlooked.

Marchiafava-Bignami Disease in a Patient With Polysubstance Use Disorder.

Marchiafava-Bignami disease (MBD) is a rare demyelinating disease associated with chronic alcohol use and/or malnutrition leading to vitamin deficiency. Clinical presentation is diverse and can range from mild neurological deficits of dysarthria and confusion to severe symptoms such as coma or even death. Diagnosis is made using imaging modalities including magnetic resonance imaging (MRI) and computed tomography (CT) with the rise in technological advances placing MRI as the most sensitive and specific imaging technology for diagnosis. Classic MBD imaging demonstrates demyelination and necrotic damage of the corpus callosum. While MBD is a well-documented neurologic complication of chronic alcoholism, its occurrence and presentation in the context of concurrent polysubstance abuse remain underexplored. We outline the case of a 27-year-old male with polysubstance use disorder presenting with subacute neurological deterioration and demyelination of the splenium of the corpus callosum.

Oromandibular Dystonia After Low-Dose Olanzapine Treatment in a Patient With Marchiafava-Bignami Disease With Demyelinating Lesions in the Corpus Callosum: A Case Report.

Marchiafava-Bignami disease is a rare disorder characterized by demyelination and necrosis of the central nervous system. Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions. Herein, we present the case of a patient with Marchiafava-Bignami disease who developed acute oromandibular dystonia after receiving a very low dose of olanzapine. He was a 60-year-old Japanese man who was diagnosed with demyelinating lesions in the corpus callosum associated with Marchiafava-Bignami disease. At one point, he became agitated at night and was administered olanzapine 2.5 mg, resulting in the onset of oromandibular dystonia; however, the symptoms disappeared upon discontinuation of the drug. Primary dystonia is believed to arise solely from abnormal basal ganglia function in the absence of apparent morphological changes, according to the traditional view. However, recent studies suggest the involvement of lesions beyond the basal ganglia and organic factors, including ultrastructural changes. Rare side effects that develop following small doses of olanzapine indicate that demyelinating lesions of the corpus callosum may be partially responsible for oromandibular dystonia. This case report supports previous reports that the corpus callosum is involved in dystonia and provides insights into the pathophysiology underlying oromandibular dystonia.

Exploring Marchiafava-Bignami Disease: A Rare Presentation in a Young Pregnant Female.

Marchiafava-Bignami disease (MBD) is uncommon and typically linked with persistent alcohol consumption; nevertheless, instances have been reported in non-alcoholic individuals with nutritional deficiencies. Depending on the severity, this condition may manifest as acute, subacute, or chronic neurological signs and symptoms, ranging from moderate dysarthria or mild disorientation to coma and death. We report a case of a 30-year-old, 14-week pregnant female who presented with complaints of persistent vomiting and loss of appetite. She was found to have achalasia cardia on upper GI endoscopy. Later, she developed confusion, irrelevant talks and her speech was incomprehensible. An MRI of the brain was done which showed features likely that of MBD. She was started high dose intravenous thiamine to which she responded brilliantly.

Marchiafava-Bignami disease: Prompt diagnosis made by magnetic resonance brain imaging.

Key Clinical Message: Marchiafava-Bignami disease, a rare condition often associated with alcoholism, shows myelin degeneration with tissue necrosis specifically in the corpus callosum. Urgent application of magnetic resonance imaging could lead to prompt diagnosis. Abstract: A 66-year-old male with habitual alcohol drink complained acute deterioration of left-side muscle weakness as initial presentation. On the arrival, the patient was confused, with stable vital sign and unremarkable pyramidal sign. Although several potential diagnoses could be considered, brain computed tomography did not provide diagnostic information, and subsequently-performed magnetic resonance imaging revealed hyperintense lesions on T2-flair images in corpus callosum, suggesting MBD as clinical diagnosis. Prompt diagnosis enabled us to introduce thiamine administration with subsequent favorable neurological outcome.

COVID-19-induced acute loss of consciousness in Marchiafava-Bignami disease: a case report.

Among the various manifestations of COVID-19, the neurological implications of SARS-CoV-2 infection are of significant concern. Marchiafava-Bignami disease (MBD), a neurodegenerative disorder, exhibits a clinical spectrum ranging from mild progressive dementia in its chronic form to states of acute coma and varied mortality rates. Acute MBD primarily occurs in chronic alcoholics and malnourished individuals and is characterized by sudden loss of consciousness, seizures, confusion, and psychosis. We herein report a case of MBD presenting as acute loss of consciousness after the development of COVID-19. The patient presented with a history of fever and upper respiratory infection and was diagnosed with SARS-CoV-2 infection. He developed a neurological syndrome characterized by altered consciousness and convulsions, and brain magnetic resonance imaging revealed abnormal signals in the corpus callosum and frontoparietal lobes. Considering his alcohol intake history and the absence of other differential diagnoses, we diagnosed him with acute MBD triggered by COVID-19. After high-dose vitamin B1 and corticosteroid therapy, his clinical symptoms improved. In this case, we observed a temporal sequence between the development of COVID-19 and acute exacerbation of MBD. This case adds to the mounting evidence suggesting the potential effect of SARS-CoV-2 on the neurological system.

Marchiafava-Bignami Disease: A Rare Association With Dysdiadochokinesia and Ataxic Gait.

Marchiafava-Bignami disease (MBD) is a rare neurological disorder characterized by demyelination and necrosis of the corpus callosum. The non-specific signs and symptoms associated with MBD including dysarthria, impaired walking, pyramidal signs, primitive reflexes, seizures, incontinence, sensory symptoms, gaze palsies, and altered mental state result in a challenging diagnosis. Here, we report the case of a 64-year-old female presenting with dizziness, gait ataxia, and a history of recurrent falls for several months. Initial blood tests indicated anaemia, hypokalemia, hypomagnesemia, and mildly elevated inflammatory markers. Her presentation was initially attributed to a multifactorial aetiology, including a urinary tract infection, orthostatic hypotension, and electrolyte imbalances; however, on correction of reversible causes, her symptoms persisted. Moreover, further examination revealed right-hand dysdiadochokinesia. Subsequent brain MRI revealed fluid-attenuated inversion recovery hyperintensity within the corpus callosum and a right-sided pericallosal white matter hyperintensity. Neuro-radiology multidisciplinary team reported these findings consistent with MBD. Management with vitamin B supplementation was promptly initiated alongside alcohol cessation advice. She was also reviewed by physiotherapy teams. This case adds to the paucity of literature on MBD.