An Acute Presentation of <scp>Marchiafava–Bignami</scp> Disease

A 61-year-old man presented to hospital with a 1-week history of increasing confusion and lethargy. Past medical history included Hodgkin lymphoma treated with doxorubicin, bleomycin, vinblastine, and dacarbazine chemotherapy, and dexrazoxane that was completed 6 months prior to presentation; systemic diffuse large B-cell lymphoma treated with rituximab plus cyclophosphamide, doxorubicin, vincristine, and prednisolone, and radiotherapy 7 years before presentation; and recent decreased nutritional intake. There was no history of alcohol misuse. Brain magnetic resonance imaging showed striking T2-fluid-attenuated inversion recovery hyperintensities with diffusion restriction involving the corpus callosum and middle cerebellar peduncles (Figure1A–D), as well as the globi pallidi, mesial temporal lobes, and cerebral peduncles. Corresponding T1-hypointensity of the lesions was observed, without enhancement postgadolinium. Leading diagnostic considerations based on neuroimaging findings included paraneoplastic/autoimmune encephalitis, lymphoma, and Marchiafava–Bignami disease (MBD). Lumbar puncture revealed only mild lymphocytosis of 49 WBC/μl, with no evidence of a clonal population to suggest lymphoma. Antibody testing for paraneoplastic/autoimmune encephalitis was negative. The patient was started on parental vitamin B supplementation for suspected MBD, but developed sepsis and died. Autopsy examination of the brain revealed patchy loss of myelin in the genu and body of the corpus callosum (Figure1E), the internal capsules, cerebral peduncles, and the left middle cerebellar peduncle (Figure1F). There was no frank atrophy or cystic degeneration of the corpus callosum. Microscopic analysis showed myelin loss and white matter vacuolation of major tracts, including the corpus callosum (Figure1G) and left middle cerebellar peduncle, with marked infiltration by CD68-positive macrophages (Figure1H) and occasional axonal spheroids without widespread axonal swelling or loss. Similar findings were present in the internal capsule and cerebral peduncles. In contrast, subcortical white matter showed no myelin loss or axonal damage. Overall, these findings were consistent with a diagnosis of MBD with extracallosal involvement. MBD is a rare disease characterised classically by demyelination and necrosis of the corpus callosum.1 Initially described in older men with chronic consumption of low-quality red wine, MBD is now appreciated as often being secondary to malnutrition alone.2 Similar variation is also seen in the lesions of MBD. In a review of comatose or stuporous patients with MBD, T2-hyperintense lesions were universal in the corpus callosum at presentation, and almost always progressed to subacute cystic necrotic lesions.1 However, callosal atrophy was seen in only 79% of cases, and extracallosal lesions were present in 47% of cases, often in periventricular white matter. Lesions of the pyramidal tracts and middle cerebellar peduncle have also been described,3 as demonstrated in our case. MBD with impaired consciousness can often be fatal although clinical recovery has been noted following treatment with vitamins B1 and B6.1 Radiographic differential diagnoses for MBD include central nervous system infection, autoimmune encephalitis, malignancy, or other toxic/metabolic causes. Specific magnetic resonance imaging lesion localization in MBD along with negative testing for alternative etiologies are supportive of MBD. Where periventricular lesions dominate, MBD can be difficult to radiographically separate from lymphoma. Toxic leukoencephalopathy following administration of chemotherapy, including methotrexate, often involves the cortical white matter, which is relatively unaffected in MBD.4 All authors contributed to the conception and design of the study; all authors contributed to the acquisition and analysis of data; M.T.G. and A.B. contributed to drafting the text or preparing the figures. All authors contributed to this manuscript. Nothing to Report.

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