Marchiafava Bignami disease is a rare neurologic condition that usually appears in chronic alcohol abusers, but has also been described in association with gynecologic malignancies as a paraneoplastic syndrome, consisting of corpus callosum demyelination and necrosis.
Marchiafava Bignami disease usually affects men who are chronic alcoholics and are middle- aged or elderly [1], prefer to consume hard liquor and are severely malnourished with vitamin B complex deficiency [2]. Symptoms may commence in an abrupt or progressive manner. Some present with psychiatric disturbances like dementia, others with more or less severe neurologic impairment, like gait disturbances, seizures, hemiparesis or tetraparesis, limb spasticity, tremor or weakness. Aphasia and ideomotor apraxia, although less frequent, seem to be more specific [3]. Diagnosis is complicated by the fact that the patients may also have alcoholic hepatitis or Wernicke-Korsakoff syndrome and can become even more difficult when the patient is experiencing delirium tremens, is in a coma or even lethargic, as some neurologic tests cannot be performed. In such cases, the interhemispheric disconnection, also called "split brain syndrome" [4] caused by corpus callosum demyelination is difficult to prove. The disconnection of the hemispheres may cause agraphia of the dominant hand [5] or hemianopia [6]. However, any patient presenting with Wernicke-Korsakoff syndrome should be suspected to have Marchiafava Bignami disease.
The neurologic examination often reveals further abnormalities: dysarthria, mutism, nystagmus, gaze palsy, diplopia, peripheral sensory loss, deep tendon reflex loss or Babinski sign or even the presence of primitive reflexes. Mental state impairment may not be as severe and may consist of confusion, disorientation or memory loss and inability to memorize new information.
Marchiafava Bignami disease has occasionally been described in non-alcoholic patients, such as individuals suffering from Plasmodium falciparum infection [7] or gynecologic malignancies.
As soon as the patient is identified as a chronic alcohol abuser, the physician should order serum glucose, serum electrolytes, and toxicology screening. Blood workup should also include a complete cell blood count. If the individual presents with acute neurologic symptoms like seizures or coma, a cerebral mass or stroke must be urgently excluded using computer tomography or magnetic resonance imaging scans. The latter is considered the most useful diagnostic tool for this condition [8] [9] and is able to describe myelin and neuron loss in the corpus callosum, as well as cyst formation. Corpus callosum initially becomes edematous, followed by the genu and the splenium [10]. The edema is initially vasogenic and then converts to cytotoxic [11]. Lesions may initially involve the central areas and spare the ventral and dorsal extremities. This finding is known as " the sandwich sign". When present, cysts are described as hyperintense, whereas myelin damage causes hypointensity. Magnetic resonance imaging may also reveal the presence of associated cortical lesions [12]. The chronic phase involves corpus callosum atrophy.
A novel technique, the fluid-attenuated inversion recovery is also contributory, offering important information when available, such as the extent of myelin damage.
A central nervous system or meningeal infection sometimes must also be ruled out, and that is accomplished using a lumbar puncture.
Electroencephalography is uninformative in Marchiafava Bignami disease [13].