Case Presentation: The patient is a 64-year-old man with alcohol use disorder of at least 20 years. He had been drinking about 3 six-packs daily on average, with a recent reduction to 10-13 beers daily. His condition was complicated by hepatic steatosis. He was admitted for progressively worsening confusion and ambulatory dysfunction. Labs revealed a normal basic metabolic panel, INR 1.02, normal liver function tests, negative ethanol levels, and normal ammonia levels. A CT of his head showed no evidence of acute bleed, stroke, or space-occupying lesion but did show evidence of global cerebral atrophy which was confirmed by MRI. CT chest, abdomen, and pelvis revealed evidence of distended bladder, otherwise without any findings that could have contributed to his current presentation. Neurological examination was notable at the time for unstable gait, bradykinesia, poorly coordinated rapid alternating movements, decreased vibratory sensation, and positive Romberg test. The initial impression was that the patient had a multifactorial gait abnormality due to ETOH-related cerebellar degeneration, chronic lumbar radiculopathy, and possible additional ETOH-associated neuropathy, although reflexes were preserved. Differential diagnoses included Wernicke’s encephalopathy, alcohol withdrawal, and delirium with underlying major neurocognitive disorder given findings of global atrophy on CT and MRI. MRI also showed spots of demyelination within the corpus callosum which can be seen in Marchiafava-Bignami Disease (MBD). Treatment with IV thiamine replacement was initiated, along with multivitamin and folic acid. Alcohol withdrawal protocol was also started. The patient was stabilized and was able to be discharged to a rehab facility.
Discussion: MBD is a rare, but severe disorder with high mortality rates despite treatment. MBD is difficult to diagnose as symptoms may be nonspecific. Clinical signs include reduced consciousness, emotional and psychotic symptoms, depression and apathy, aggression, seizures, hemiparesis, ataxia, and apraxia. Progression of disease can be rapid onset or gradual. The ultimate diagnosis is autopsy; however, imaging is now also being used for definitive diagnosis. A diagnosis can be made with a history of alcoholism and a CT scan or MRI demonstrating specific pathological lesions in the corpus callosum. Treatment is usually limited to thiamine and other B vitamins. Some case reports suggest the utility of corticosteroids to reduce cerebral edema, therefore leading to clinical improvement and possibly reversal of the associated imaging findings. However, more data is needed to determine if corticosteroids should be standard of care when MBD is suspected on imaging as there are limited case reports of this condition. Other neurological manifestations are managed symptomatically. Patients who survive require complete abstinence from alcohol, rehabilitation, and nutritional support.
Conclusions: We present a case of suspected Marchiafava-Bignami Disease (MBD), a rare disorder that is often, but not always, associated with alcohol use disorder. Imaging was crucial in identifying the suspected etiology of this patient’s altered mental status. While the treatment of MBD overlaps with that of alcohol use disorder and withdrawal, the prognosis can be widely variable. If this patient failed to respond to treatment with the alcohol withdrawal protocol during his hospitalization, corticosteroid initiation could have been a possible adjunctive treatment.