Diagnosis Of Marchiafava-Bignami Disease Research Articles

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.

Diagnosis and Management of Marchiafava-Bignami Disease, a Rare Neurological Complication of Long-term Alcohol Abuse.

Marchiafava Bignami disease (MBD) is a neurological disorder characterized by myelin degeneration and tissue necrosis within the central nervous system. This condition predominantly afflicts individuals with chronic alcohol abuse and malnutrition. The most distinctive pathological feature of MBD is the necrotic degeneration specifically observed in the corpus callosum; however, emerging evidence also indicates the potential involvement of other brain regions. The main pathophysiological mechanisms involve alcohol consumption, which leads to thiamine depletion and disrupts various metabolic pathways. This, in turn, hinders myelin synthesis and impairs signal transmission, resulting in a wide range of symptoms and signs. MBD can manifest in different stages, including acute, subacute, and chronic, each with varying severity. Diagnosing MBD can be challenging due to its presenting symptoms being nonspecific. In the era preceding the development of sophisticated imaging methodologies, the diagnosis of MBD was primarily established through postmortem examination conducted during autopsies. However, with a detailed medical history and imaging modalities such as magnetic resonance imaging (MRI) and computed tomography (CT), it is now possible to diagnose MBD and differentiate it from other diseases with similar clinical presentations. MRI is considered the gold standard for visualizing lesions in the corpus callosum and other affected areas. Also, positron emission tomography (PET), single photon emission computed tomography (SPECT), and magnetic resonance spectroscopy (MRS) could show brain damage in the corpus callosum associated with MBD. MRI-diffusion-weighted imaging (DWI) detects early lesions, while diffusion tensor imaging (DTI) investigates clinical manifestations and recovery. Poor prognostic indicators for MBD include extensive cerebral cortex involvement and severe disturbances in consciousness. Differential diagnosis involves ruling out other alcohol-related disorders, such as neoplastic conditions, Wernicke's encephalopathy, and multiple sclerosis, among others, through careful evaluation. The therapeutic strategies for the management of MBD are currently lacking definitive establishment; however, available evidence indicates that targeted interventions have the potential to induce amelioration. Corticosteroids offer prospective advantages in addressing brain edema, demyelination, and inflammation; research findings present a heterogeneous outcome pattern. Notably, thiamine treatment reduces the likelihood of unfavorable consequences, particularly when administered promptly, and thus is endorsed as the primary therapeutic approach for MBD. This review will highlight this rare disease that many healthcare providers might not be familiar with. By understanding its clinical presentation, differential diagnosis, imaging, and management, medical providers might better identify and diagnose MBD. Raising awareness about this condition can lead to better prevention, early detection, and timely intervention.

多発顔面汚染創と後弓反張から破傷風との鑑別を要したMarchiafava–Bignami diseaseの1例(A case of Marchiafava–Bignami disease required differential diagnosis with tetanus due to facial contaminated wounds and opisthotonos)

Marchiafava–Bignami disease（MBD）は，長期間のアルコール摂取や低栄養を原因に意識障害を引き起こす一方で，稀な疾患であるため意識障害の原因疾患として鑑別に挙がらず，正確なMBDの診断に至らない可能性がある。症例は大酒家の56歳男性。受診3日前に1mの高さより転落し，その後体動困難となり前医を受診した。前医では顔面および後頭部に多発する汚染創と後弓反張を認め，破傷風と診断され加療目的で当院へ転院搬送された。当院来院時，破傷風は否定的であったが，前医での経過から確実に除外することも困難であり，低侵襲な治療は必要と判断した。一方で長期のアルコール摂取歴からアルコールや栄養障害に伴う脳症を第一に疑い，ビタミンB1を中心とするビタミン補充療法を開始した。第2病日に，飲酒歴と臨床症状，前医の頭部MRI画像における脳梁膨大部高信号からMBDと診断した。ビタミン補充療法で症状は改善し，第13病日に前医へ転院となった。MBDは早期のビタミン補充療法で神経症状改善の可能性があるため，救急医はMBDの病態を理解し，長期間のアルコール摂取歴のある意識障害患者では，MBDを想起し鑑別を行うことが重要である。 Marchiafava–Bignami disease (MBD) is a rare, severe, and usually fatal neurological disorder associated with chronic alcoholism. An accurate diagnosis of MBD is difficult. A 56–year–old man with a history of long–term alcohol use disorder originally visited a doctor because he had fallen from a height of 1m three days prior, injuring himself and subsequently experiencing difficulty moving. His doctor identified contaminated wounds and opisthotonos. He was diagnosed with tetanus and transferred to our hospital for intensive tetanus–specific care; treatment was initiated despite scant symptoms. Given his history, alcoholic encephalopathy was also considered, and vitamin supplementation therapy was initiated. On day 2, he was diagnosed with MBD based on symptoms and the presence of a high–intensity lesion in the splenium of the corpus callosum on diffusion–weighted and fluid–attenuated inversion recovery imaging. His symptoms improved with vitamin supplementation therapy. On day 13, he returned to the original hospital. This case emphasizes the need to consider MBD when patients with impaired consciousness have a history of long–term alcohol use disorder. Marchiafava–Bignami disease（MBD）は，長期間のアルコール摂取や低栄養を原因として脳梁に脱髄壊死を来す疾患であり，急性期には意識レベル低下を含む精神状態の変化や歩行障害，構音障害を呈する 1。MBDは稀な疾患であるため意識障害の原因疾患として鑑別に挙がらず，正確なMBDの診断に至らない可能性がある。今回我々は，受傷から数日以上経過した多発する汚染創と後弓反張から破傷風と診断され当院へ搬送となったが，長期間のアルコール摂取歴と頭部MRI所見からMBDと診断された症例を経験したので報告する。 なお，本報告は介入のない1例の症例報告であり，倫理委員会の承諾を必要としない。また本報告にかかわる症例はすべて個人情報保護法に基づいて匿名化が行われており，報告に際しては患者本人より同意を取得している。 患 者：56歳，男性，身長173cm，体重53kg，BMI 17.7 既往歴：高血圧症 内服薬：アムロジピン5mg/日 喫煙歴：15本/日，36年間 飲酒歴：焼酎 500mL/日，36年間 現病歴：患者は焼酎を500mL/日ほど飲酒していたが，受診3か月前に失業し，その後から飲酒量が1,000mL/日に増加した。受診2か月前からふらつきが出現し，頻回に転倒するようになった。受診1か月前には｢着物を着た猫が見える｣などの幻覚症状が出現し，それを追いかけるようになった。受診3日前に1mの高さの窓から地面に頭部から転落し，受診2日前から呂律が回らなくなった。その後ふらつきが悪化し体動困難となったため前医を受診した。身体所見では全身不潔と異臭が目立ち，鼻根部と頭部に受傷時期不明な骨組織まで露出する汚染した挫滅創を数か所認めた。診察後に撮影したCTでは明らかな骨折や出血はなく，続けて撮像を行ったMRIでは拡散強調画像とfluid attenuated inversion recovery（FLAIR）画像で脳梁部に高信号（Fig. 1a, b）を，apparent diffusion coefficient（ADC）画像で脳梁部に低信号（Fig. 1c）を認めたが，この時点では臨床所見との関連性は不明とされた。MRI撮像後に5分間継続する四肢を伸展し，頸部や背部を反り返らせる痙攣を認めた。痙攣の様式から後弓反張と判断し，フェニトイン750mg静注によって痙攣は消失した。顔面および頭部に多発する汚染創と後弓反張から破傷風と診断され，加療目的に同日当院へ転院搬送された。 Brain MRI on day 1. DWI (a) and FLAIR (b) showed a high intensity lesion in the splenium of the corpus callosum on MRI. ADC(c) showed a low intensity lesion in the splenium of the corpus callosum on MRI. DWI: diffusion–weighted imaging, FLAIR: fluid–attenuated inversion recovery, ADC: apparent diffusion coefficient 来院後経過：当院到着時はJapan coma scale（JCS）3，痙攣や不随意運動，錐体外路症状を認めなかった。バイタルサインは血圧126/65mmHg，心拍数98/分・整，腋窩温37.3度，SpO2 96%（大気下）であった。全身不潔で異臭があり，鼻根部と頭部に多発性の骨組織まで到達する汚染創を認めた（Fig. 2a, b）。開口障害を認めなかった。また光や疼痛刺激による痙攣誘発を認めなかった。来院時検査所見をTable 1に示す。動脈血液ガス分析では代償困難な代謝性アシドーシスや低血糖を認めなかった。血液生化学検査では，軽度の腎機能障害と貧血，炎症反応の上昇を認めた。髄液検査では細胞数の増加と糖の低下は見られず，髄膜炎は否定的であった。 Injuries to the face and head. Open wounds reaching the periosteum were found at the base of the nose (a) and back of the head (b). 前医で後弓反張を一度認めたが，来院後に開口障害，筋強剛・痙攣，自律神経障害に伴う血圧変動を認めなかった。また軽度の意識障害を認めるものの，その他のバイタルサインは安定しており，積極的に破傷風を疑う所見に乏しかったが，前医での経過から確実に破傷風を除外することも困難であった。よって侵襲性の低い破傷風に対する治療は必要と判断し，鼻根部および頭部の汚染創は救急外来でデブリドマンを行い，その後は連日創部洗浄を行い，感染コントロールを図る方針とした。また集中治療室で暗室管理を行い，マグネシウム製剤，抗破傷風ヒト免疫グロブリンおよびセフトリアキソン 2g/日の投与を開始したが，この時点での経口気管挿管による確実な気道確保は必要ないと判断した。一方で長期間の飲酒歴からアルコールや栄養障害による脳症を第一に疑い，ビタミンB1 200mg/日を中心とするビタミン補充療法を開始した。 第2病日も開口障害，筋強剛・痙攣，自律神経障害に伴う血圧変動を認めず，破傷風は否定的であった。一方でビタミン補充療法や輸液療法を中心とした全身管理の開始後から意識レベルは改善を認め，JCS 2となった。長期間のアルコール摂取歴と臨床症状，前医で撮像を行った頭部MRI拡散強調画像およびFLAIR画像での脳梁膨大部高信号（Fig. 1a, b）からMBDと診断した。また同日よりリハビリテーションを開始し，栄養はリフィーディング症候群発症の危険因子である5日以上の経口摂取不良とアルコール依存症があったため，glutamine–fiber–oligosaccharideで経腸栄養を開始し，投与カロリーを漸増する方針とした。第3病日の精神学的評価では，アルコール依存傾向はあるが離脱症状はなく，後弓反張はアルコール離脱によるものではなく，MBDに伴う症状と考えられた。その後も意識障害の悪化や筋強剛・痙攣を認めなかった。第10病日に意識レベルはJCS 1となり，汚染創は感染コントロールが得られたため縫合閉鎖を行った。第11病日までに経腸栄養を目標カロリーである34kcal/kg/日（合計1,800kcal/日）に漸増することができ，経過中にリフィーディング症候群の所見は見られなかった。第13病日には意識は清明で，リハビリテーションにより端座位まで可能となった。また経口摂取も来院時は不可能であったが，意識レベルの改善に伴いゼリー摂取可能なまでに改善を認めた。同日リハビリテーション継続目的に前医へ転院となった。 MBDは1903年にMarchiafavaとBignamiが3例の剖検所見を初めて報告した疾患であり 2，1981年から2012年1月までの約31年間で153例が報告されている 1。長期間のアルコール摂取や低栄養が原因と考えられており，臨床症状として初期には本症例のように意識レベル低下を含む精神状態の変化や歩行障害，構音障害を来すことが多い 1。MBDの診断には頭部MRIが有用であり，拡散強調像とFLAIR画像で脳梁に左右対称性に高信号を呈することが特徴である。ADC画像ではADC値が上昇する場合も，低下する場合もあるとされている 3。これは長期間のアルコール摂取や低栄養によるビタミンB1や微量元素不足による血管壁障害を背景に，ピルビン酸の蓄積に伴う局所アシドーシスや血液脳関門の破綻を引き起こし，脳梁の浮腫誘発と同部位の脱髄壊死，血管漏出性出血を来すためと報告されている 4。病変は脳梁内の中間層に限局し，上下層は障害を免れる傾向を認める（sandwich sign）が，なぜ病変が中間層に限局するかは不明である 5。一方で脳梁高信号はMBD以外にも，ウイルス性脳炎 / 脳症，てんかん発作，高Na血症，低血糖でも来しうるため 6，血液検査や髄液検査を行い他の疾患を鑑別する必要がある。MBDはしばしば脳梁外病変を合併することが知られており，脳梁病変と同様に左右対称性であることが多い。脳梁外病変の中でも皮質病変は，認知症などの予後を決定する重要因子と考えられている 7。Heinrichらは，神経放射線学的所見と臨床症状および予後との関連性について検討しており，急性期の意識障害が強く，画像所見では脳梁全体に病変が及び，予後不良なA群と，急性期の意識障害がないか軽度で，脳梁の障害が部分的な予後良好なB群に分類している 8。MBDに対する特異的な治療法はないが，他のアルコール性脳症と同様に早期のビタミンB1を中心とするビタミン補充療法が神経症状の改善に有効である。またビタミン補充療法の一つであるチアミン大量療法は，1,500mg/日のチアミンを3～5日間，その後250mg/日のチアミンを3～5日間または神経症状の改善が得られるまで投与を行う方法で，Wernicke脳症に対する治療として脳神経領域で行われており 9，MBDでも有効である可能性が報告されている 10。一方でビタミン補充療法に反応せず，長期にわたって見当識障害，健忘，失行といった神経症状が継続した報告もあり 3，治療開始後も長期の経過観察が必要と考えられる。本症例は長期間のアルコール摂取歴と，MRI拡散強調画像およびFRAIR画像でMBDに特徴的な脳梁膨大部の高信号を認めた。一方で血液検査･髄液検査で脳炎 / 髄膜炎，電解質異常，代謝異常などの脳梁膨大部に高信号を来す他の疾患を否定できたため，MBDと診断した。来院時JCS 3と意識障害が軽度であり，MRI画像で脳梁高信号が部分的であったため，本症例はB群に分類されると考えられた。実際，入院後直ちにビタミン補充療法を開始し，意識障害は改善が得られ経過は良好であった。本症例ではビタミンB1 200mg/日と全身管理で意識レベルは改善を認めたが，意識レベルの改善が得られなければチアミン大量療法の実施も検討に値する状況であったと考えられる。 一方で初診時に疑われた破傷風は，破傷風菌が産生する神経毒素により運動ニューロンの抑制シグナル伝達が阻害され，全身の筋緊張亢進を来し，重篤化すると自律神経障害を引き起こす疾患である 11。開口障害など初期症状から全身性痙攣が始まるまでの時間をonset timeといい，これが48時間以内である場合，予後が不良といわれている 12。本症例は来院時に意識障害を認め，開口障害，筋強剛・痙攣，自律神経障害に伴う血圧変動など破傷風に特徴的な臨床症状が乏しかった。また呂律障害を初期症状として，後弓反張を来し破傷風第3期まで進行したとすれば，本症例のように破傷風の治療開始直後から経時的に症状が改善するような経過をたどるとは考え難く，破傷風は否定的と判断できる。 後弓反張は四肢を伸展し頸部や体幹を反り返らせる痙攣様式と定義されており 11，破傷風以外では解離性障害や髄膜炎でも来すことが報告されている 13, 14。本症例では精神疾患の既往はなく，髄液検査でも髄膜炎を示唆する所見は見られず，いずれも否定的と判断した。一方でMBDの報告例の中には四肢対称性に筋強直を示した症例があり 15，本症例でも前医で四肢を伸展し頸部や体幹を反り返らせる痙攣を認めていた。これらの痙攣様式は後弓反張の定義と矛盾せず，MBDでも後弓反張を呈しうると考えられた。本症例ではフェニトインで速やかに鎮痙が得られたが，MBDの痙攣に対する特異的な治療法の報告はなく，てんかん重積状態に準じて抗けいれん薬を使用することが有効である可能性がある。 本症例は外傷歴と後弓反張から破傷風として紹介されたが，長期間のアルコール摂取歴と頭部MRI画像から後にMBDと診断された。MBDは稀な疾患であるため，意識障害の原因疾患として鑑別に挙がらず，正確なMBDの診断に至らない可能性がある。意識障害の原因として長期間のアルコール摂取歴は重要であり，意識障害を伴う場合には，飲酒歴を聴取しMBDなどのアルコール関連疾患の可能性を検討する必要がある。また長期間のアルコール摂取歴と精神状態の変化や歩行障害などの特徴的な臨床症状から，MBDなどのアルコール関連脳症が疑われる患者では，早急にビタミン補充療法を開始し，診断のため全身状態安定後に頭部MRI検査を実施する必要がある。 外傷歴と後弓反張から初診医で破傷風と診断されたものの，長期間のアルコール摂取歴とMRI所見よりMBDと判明した症例を経験した。MBDは早期に適切なビタミン補充療法がなされれば神経症状の改善の可能性があるため，救急医はMBDの病態を理解し，長期間のアルコール摂取歴がある意識障害患者では本疾患を想起し鑑別を行うことが重要である。 本稿のすべての著者には規定された利益相反はない。

Marchiafava- Bignami disease (MBD): A rare case report

Marchiafava-Bignami disease (MBD) is a rare neuro degenerative disease characterized by demyelination of corpus callosum. Clinical diagnosis of MBD is challenging due to its nonspecific neurological manifestations. It’s promptly diagnosed by brain Magnetic Resonance Imaging (MRI). Prompt treatment with high dose thiamine could be lifesaving. Here we report a 68 year old male with chronic alcoholism who was diagnosed to have MBD and successfully treated with high doses of intravenous thiamine administration.

Marchiafava-bignami disease in a chinese patient with mild cognitive impairment

Abstract Introduction: Marchiafava-Bignami disease (MBD) is a rare outcome often associated with chronic alcohol abuse. Clinical manifestations are diverse. Recently, brain magnetic resonance imaging has paved the way for the diagnosis of MBD. Patient concerns: A 62-year-old man was admitted to our hospital because of headache and mild cognitive impairment. He had an alcohol consumption (500 g/d) history for over 20 years. Diagnosis: Based on Magnetic Resonance Imaging, he was diagnosed with Marchiafava-Bignami disease (MBD). Interventions: The patient was asked to stop alcohol consumption, and was prescribed with B-vitamins (thiamine, B6, B12) to improve his symptoms. Outcomes: After one week of treatment, the patient could communicate with others fluently. His memory improved significantly. Conclusion: Acute MBD is not always fatal; early diagnosis and prompt treatment can greatly improve its prognosis. Radiological findings can aid the clinical diagnosis of MBD. The lesions are usually localized in or spread throughout the corpus callosum.

A case report of acute Marchiafava-Bignami disease: a rare clinical entity in chronic alcoholism

Marchiafava‑Bignami disease (MBD) is a rare neurological disease often associated with a chronic consumption of alcohol and malnutrition, which is characterized by a demyelination and necrosis of the corpus callosum. We present a case of a 21-year-old male with chronic alcoholism who presented with an acute altered sensorium and seizure, which were initially treated as meningoencephalitis. His persistent poor Glasgow coma scale score and ideomotor recovery with encephalitic changes on his electroencephalogram prompted urgent magnetic resonance imaging (MRI) of his brain, which revealed extensive symmetrical hyperintensities in the corpus callosum. The diagnosis of MBD was made because of the typical MRI findings and after the exclusion of other possible diagnosis. The patient was promptly treated with a parenteral thiamine and showed a good recovery at 3 months follow-up. This case highlights the importance of diagnosing and recognizing MBD in a patient with chronic alcoholism as prompt treatment could prevent irreversible damage, which could carry high morbidity.

Gadolinium Enhancement May Indicate a Condition at Risk of Developing Necrosis in Marchiafava-Bignami Disease: A Case Report and Literature Review.

Marchiafava–Bignami disease (MBD) is a rare condition characterized by demyelination, necrosis and atrophy of the corpus callosum (CC), and mainly associated with alcoholism. MBD may present with various clinical manifestations. Brain magnetic resonance imaging (MRI) scan is important in prompt diagnosis and treatment of MBD. Here we reported a case of MBD and reviewed literature about the usage of gadolinium-enhanced MRI in MBD. Gadolinium enhancement may indicate a condition at risk of developing necrosis. We therefore recommend a contrast-enhanced MRI study in severe alcoholics with suspected diagnosis of MBD.

The Importance of Brain MRI in the Diagnosis of Marchiafava-Bignami Disease

The Importance of Brain MRI in the Diagnosis of Marchiafava-Bignami Disease

Marchiafava-Bignami Disease: A Less Known Neurological Complication of Alcoholism

Marchiafava-Bignami disease (MBD) is a disorder associated with chronic alcohol consumption and characterized by demyelination and necrosis of the corpus callosum. Patients may have reduced consciousness, psychotic symptoms, apathy, hemiparesis, ataxia and coma. Although some cases of recovery have been reported, the outcome is poor, with disability or dead. We reported a case of a 56-year-old woman with chronic alcoholism admitted to our hospital with impaired consciousness and a history of gait disturbance. On examination, she was in a coma, with increased muscle tone and left arm paresis. Laboratory studies showed a folic acid deficiency and the CT scan was normal. Magnetic resonance imaging revealed lesions in periventricular white matter and the entire corpus callosum with restriction of water diffusion consistent with the diagnosis of MBD. Despite treatment with B vitamin complex, the patient died. Coma and radiological involvement of the entire corpus callosum are compatible with type A MBD and associated with poor prognosis. Although being a rare alcoholism complication, it should not be forgotten since an early diagnosis and prompt supportive therapy may enable a better outcome. J Med Cases. 2016;7(5):171-173 doi: http://dx.doi.org/10.14740/jmc2477w

Marchiafava-Bignami Disease: A Less Known Neurological Complication of Alcoholism

Marchiafava-Bignami disease (MBD) is a disorder associated with chronic alcohol consumption and characterized by demyelination and necrosis of the corpus callosum. Patients may have reduced consciousness, psychotic symptoms, apathy, hemiparesis, ataxia and coma. Although some cases of recovery have been reported, the outcome is poor, with disability or dead. We reported a case of a 56-year-old woman with chronic alcoholism admitted to our hospital with impaired consciousness and a history of gait disturbance. On examination, she was in a coma, with increased muscle tone and left arm paresis. Laboratory studies showed a folic acid deficiency and the CT scan was normal. Magnetic resonance imaging revealed lesions in periventricular white matter and the entire corpus callosum with restriction of water diffusion consistent with the diagnosis of MBD. Despite treatment with B vitamin complex, the patient died. Coma and radiological involvement of the entire corpus callosum are compatible with type A MBD and associated with poor prognosis. Although being a rare alcoholism complication, it should not be forgotten since an early diagnosis and prompt supportive therapy may enable a better outcome. J Med Cases. 2016;7(5):171-173 doi: http://dx.doi.org/10.14740/jmc2477w

Marchiafava-Bignami disease with asymmetric extracallosal lesions.

Marchiafava-Bignami disease (MBD) is a rare disease in patients with chronic alcoholism and is characterized by symmetric demyelination and necrosis of the corpus callosum. Clinical features include neuropsychiatric disorders, dysarthria, tetraparesis, astasia-abasia, impaired consciousness and symptoms of interhemispheric disconnection. The lesions in MBD are not restricted to the corpus callosum, but also occur in extracallosal regions. However, no case of MBD with extracallosal lesions confined to one side of the brain has been reported. We present a patient with MBD showing asymmetric extracallosal lesions and complete resolution of magnetic resonance imaging (MRI) abnormalities.

Marchiafava-Bignami disease mimics motor neuron disease: case report

BackgroundMarchiafava-Bignami disease (MBD) is a rare neurologic complication of chronic alcohol consumption that is characterized by callosal lesions involving demyelination and necrosis. Various reversible neurologic symptoms are found in patients with MBD. Dysarthria and dysphagia are found in various neurological diseases.Case presentationWe report a 51-year-old man with chronic alcoholism and malnutrition who progressively developed dysarthria and dysphagia. On admission, the patient was alert with mild cognitive dysfunction. The facial expression was flat, and there was weakness of the orbicularis oris bilaterally. The patient’s speech was slurred, there was difficulty swallowing, and the gag reflex and palate elevation were poor. The jaw jerk reflex was brisk and the snout reflex was positive. Neither tongue atrophy nor fasciculation were found. Bilateral upper and lower limb weakness with increased bilateral upper limb reflexes and Babinski reflexes were found. Because he had progressive dysarthria and dysphagia with upper and lower motor neuron signs, the initial diagnosis was motor neuron disease. However, electrophysiological analysis was normal. The vitamin B1 level was 14 ng/mL (normal: >24 ng/mL), and MRI revealed hyperintense lesions in the splenium of the corpus callosum and the primary motor cortices bilaterally. After vitamin B therapy for 17 days, the neurological disorders alleviated concurrently with disappearance of the lesions on MRI, which led to the definitive diagnosis of MBD.ConclusionsMBD presenting with these lesions can mimic motor neuron disease clinically.

Marchiafava-Bigmani Disease in Relation to Pure Alcohol Consumption

Back to table of contents Previous article Next article LettersFull AccessMarchiafava-Bigmani Disease in Relation to Pure Alcohol ConsumptionPedro Sena, Hipólito Nzwalo, Fátima Ferreira, José Drago, and Luis SoleiroPedro SenaSearch for more papers by this author, Hipólito NzwaloSearch for more papers by this author, Fátima FerreiraSearch for more papers by this author, José DragoSearch for more papers by this author, and Luis SoleiroSearch for more papers by this authorPublished Online:1 Apr 2013https://doi.org/10.1176/appi.neuropsych.12060153AboutSectionsPDF/EPUB ToolsAdd to favoritesDownload CitationsTrack Citations ShareShare onFacebookTwitterLinked InEmail To the Editor: Marchiafava-Bignami disease (MBD) is a rare complication of alcoholism defined by the presence of symmetrical demyelization and necrosis of the corpus callosum, causing neuropsychiatric manifestations. It was first described by Marchiafava and Bignami, who identified it in the autopsies of chronic wine drinkers who presented with seizures and coma.1 Nowadays, the diagnosis is supported by the association of suggestive clinical data and brain magnetic resonance (MRI).2 In this report, we describe a case of acute MBD after a period of massive pure alcohol consumption.Case ReportA 30-year-old homeless woman with a past history of postpartum depression 2 years ago, presented in an acute confusional state. She had been binge-drinking in the last year. Four weeks preceding admission, she started massive daily intake of commercially available pure alcohol (70%–90%), approximately 250–300 ml /day, or 175–270 mg/day, leading to emergency hospitalization on two occasions. She was aggressive, and showed massive generalized hypertonicity, with hyperactive reflexes. The cranial nerves were intact. No signs of meningeal irritation was noticed. Laboratory results (cerebrospinal fluid assay, metabolic panel) were normal, with exception of hypochromic macrocytic anemia (hemoglobin: 98 g/L, mean globular volume: 110 fL) and mild elevation of hepatic enzymes (alanine transaminase: 66 units/L; aspartate transaminase: 55 units/L). The electroencephalogram showed lentification of the cerebral activity. Brain cranial tomography (CT) was unremarkable. Brain MRI on T2W, DWI, and FLAIR images showed hypersignal of corpus callosum, without water restriction. On T1W and apparent diffusion coefficient (ADC), the lesion appeared hypointense (Figure 1). Based on the history of alcohol abuse in association with the imaging findings, the diagnosis of MBD was made. Despite supportive measures, intravenous vitamin B complex, and methylprednisolone, she died a week later.FIGURE 1. Axial T2 Flair [a] and Sagittal T2 [b], Showing a Hyperintense Lesion in the Corpus Callosum, More Intense in the Splenium, Isointense in T1 Without Contrast Enhancement [c]. Diffusion-Weighted MRI Sequences [d, e] Demonstrate the Absence of Restricted Diffusion.DiscussionMBD is mostly reported in malnourished middle-aged men with a history of severe chronic alcoholism.1 Brain MRI is the most sensitive method of diagnosis. It shows areas of hypointensity in T1, hyperintensity on T2, and FLAIR signal in the corpus callosum.1,2 Our patient exhibited the typical imaging findings of MBD. The differential diagnosis with Wernicke encephalopathy (WE), which is a more common alcohol complication, is mandatory, but WE and MBD can occur simultaneously . The absence of ophthalmoplegia or abnormal signal of the mammillary bodies, thalamus, or brainstem, made the diagnosis of WE unlikely.1,3 A wide diversity of alcohol beverages have been implicated in MBD.1 The patient was taking massive amounts of pure alcohol in the previous month. There is no specific therapy for MBD. Cessation of alcohol is mandatory. Treatment with thiamine and vitamin B complex can be effective,1,4 and is recommended under the presumption of an underlying vitamin deficiency.1,5 Mortality in MBD is high (21%), and those who survive tend to have severe dementia or are bedridden.1,2,5 In conclusion, we report a case of MBD unique for the association with pure alcohol consumption, which has never been described before.Academic Faculty of Medicine, Algarve UniversityNeurology Department, Faro Hospital, EPERadiology Department, Faro Hospital, EPECorrespondence: Hipólito Nzwalo, Faro, Portugal; e-mail: [email protected]comReferences1 Ropper AH, Brown RH: Diseases of the nervous system due to nutritional deficiency: Marchiafava-Bignami disease (primary degeneration of the corpus callosum), in Adams and Victor's Principles of Neurology. Ropper AHSamuels M. New York, McGraw-Hill, 2005, pp 998–999Google Scholar2 Heinrich A, Runge U, Khaw AV: Clinicoradiologic subtypes of Marchiafava-Bignami disease. J Neurol 2004; 251:1050–1059Crossref, Medline, Google Scholar3 Kosaka K, Aoki M, Kawasaki N, et al.: A non-alcoholic Japanese patient with Wernicke’s encephalopathy and Marchiafava-Bignami disease. Clin Neuropathol 1984; 3:231–236Medline, Google Scholar4 Aggarwal A, Khandelwal A, Jiloha RC: A case of Marchiafava-Bignami disease: complete recovery with thiamine. J Neuropsychiatry Clin Neurosci 2011; 23:E28Link, Google Scholar5 Navarro JF, Noriega S: [Marchiafava-Bignami disease]. Rev Neurol 1999; 28:519–523Medline, Google Scholar FiguresReferencesCited byDetailsCited byNone Volume 25Issue 2 Spring 2013Pages E71-E72 Metrics PDF download History Published online 1 April 2013 Published in print 1 April 2013

Acute Marchiafava-Bignami Disease: Diffusion-Weighted MRI in Cortical and Callosal Involvement

Marchiafava-Bignami disease (MBD) is a fatal disorder characterized by demyelination of the corpus callosum. MRI, suggestive of corpus callosum demyelination with associated white matter involvement in both cerebral hemispheres, indicates a diagnosis of MBD. In this case, MR diffusion-weighted findings taken at an acute stage of MBD revealed lesions not only in the corpus callosum but also in the cerebral cortex. Lower apparent diffusion coefficient values of the corpus callosum and cortical lesions were associated with poor clinical outcome.

Hemispheric disconnection in Marchiafava-Bignami disease: Clinical, neuropsychological and MRI findings

We report a single-case study of a patient suffering from Marchiafava-Bignami disease (MBD), a rarely intra vitam diagnosed syndrome with focal demyelination in the corpus callosum, which is usually found in patients with chronic alcohol abuse. Our study explored a variety of motor, sensory and visual functions. Striking features were left apraxia caused by two lesions in the rostral area, and left hemidyslexia related to a large splenial lesion demonstrated by MRI. As symptoms of disconnection may remain undetected clinically, MRI is a most useful tool for the diagnosis of MBD.