Marchiafava–Bignami Disease Associated with Spinal Involvement

Abstract

Marchiafava–Bignami disease (MBD) is a rare disorder of unknown etiology, strongly associated with alcoholism and malnutrition. MBD causes primary involvement of the corpus callosum, leading to confusion, dysarthria, seizures, and frequent death. We report the case of a 54-year-old male without a history of alcoholism or known malabsorption disease, who presented with altered consciousness and neurologic impairment. Complex B deficiency was addressed. Magnetic resonance imaging (MRI) showed typical corpus callosum lesions. The clinical features and radiologic images suggested spinal cord involvement. Brain histopathologic findings were consistent with MBD. Despite vitamin replacement therapy, he had a poor outcome.

Retrospective analysis of 21 cases of Marchiafava-Bignami disease in alcoholic in Southwest China

“…The University Hospital of Buenos Aires in Argentina also reported a death following intravenous methylprednisolone treatment, in which the patient's vitamin levels had corrected to normal levels but there was no sign of clinical improvement. [32] Patients with nonalcoholic MBD reported the death of an 80-year-old woman with Marchiafava-Bignami disease, which was discovered at autopsy. [33] Patient mortality appears to be linked to old age and methylprednisolone treatment.…”

Reversible Hyperintensity in Middle Cerebellar Peduncles, an infrequent finding in Marchiafava-Bignami Disease

“…Treatment includes vitamin reconstitution and supportive care 4,6 . The prognosis is poor, with death in up to 21% of cases 2 , and only 8% of cases have a favorable outcome 2,5 . It has been postulated that early diagnosis and treatment may improve the prognosis 4,5 .…”

Hiperintensidad reversible en los pedúnculos cerebelosos medios. Un hallazgo infrecuente en la enfermedad de Marchiafava-Bignami

“…Se consideró etiología neurodegenerativa y se descartó atrofia multisistémica en ausencia de parkinsonismo o disautonomía. Ante el hallazgo del signo MCP, se realizó un estudio genético de la premutación FMR1 , con resultado normal [ 2 ].…”

“…La enfermedad de Marchiafava-Bignami es una patología infrecuente (aunque probablemente infradiagnosticada), que afecta con mayor frecuencia a hombres de mediana edad (40-60 años) [ 1 ]. Su fisiopatología se desconoce, pero se asocia con alcoholismo crónico y desnutrición (incluyendo déficits vitamínicos, especialmente tiamina) [ 2 ], y produce lesiones desmielinizantes que afectan al cuerpo calloso [ 1 , 3 ]. Los pocos casos descritos demuestran una presentación clínica variable [ 4 ], que incluye ataxia, deterioro del estado mental, tetraparesia, etc.…”

“…El tratamiento incluye la reconstitución de vitaminas y tratamiento de soporte vital [ 4 ]. El pronóstico es malo, con mortalidad hasta en un 21% de los casos [ 2 ], y sólo un 8% de los casos tiene una evolución favorable [ 2 , 5 ]. Se ha postulado que el diagnóstico y el tratamiento precoces pueden mejorar el pronóstico [ 4 , 5 ].…”