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| CASE REPORT |
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| Ahead of print publication |
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A rare case of Marchiafava Bignami disease
Vikram B Vikhe, Kavish M Chopda, Junaid Ahmed, Sanjay Khaladkar
Department of General Medicine, Dr. D.Y. Patil Medical College, Hospital and Research Centre, Dr. D Y Patil Vidyapeeth, Pimpri, Pune, Maharashtra, India
| Date of Submission | 10-Aug-2021 |
| Date of Decision | 17-Feb-2022 |
| Date of Acceptance | 22-Feb-2022 |
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Correspondence Address:
Vikram B Vikhe,
Department of General Medicine, Dr. D.Y. Patil Medical College, Hospital and Research Centre, Dr. D Y Patil Vidyapeeth, Pimpri, Pune - 411 018, Maharashtra
India
 Source of Support: None, Conflict of Interest: None DOI: 10.4103/mjdrdypu.mjdrdypu_659_21
Marchiafava-Bignami disease (MBD) is a rare neurodegenerative disorder affecting the corpus callosum. It is usually seen in chronic alcoholics. MBD is an alcohol-associated disorder characterized by demyelination and necrosis of the corpus callosum. MBD was initially described in wine drinkers. It was considered to be either due to the toxic effect of alcohol or due to nutritional deficiency. Modern imaging techniques like MRI helps in the early detection of MBD even in the absence of classical clinical symptoms. WE report a case of chronic alcoholism since 20 years who presented to us with clinical signs of disorientation, dysarthria, behavioral symptoms, irrelevant talk, lapses in memory, sensory ataxia, and MRI findings suggestive of demyelination and subsequent atrophy of corpus callosum.
Keywords: Alcohol, corpus callosum, demyelination, MBD, MRI
| Introduction | |  |
Marchiafava-Bignami disease is a progressive neurological disease of chronic alcohol use characterized by corpus callosum demyelination and necrosis and subsequent atrophy. The disease was first described in 1903 by the Italian pathologists A. Bignami and E. Marchiafava.[1] In the autopsy, Marchiafava and Bignami noticed that the middle two-thirds of the corpus callosum are necrotic. MBD is a rare disease; approximately 250 cases have been reported, although many cases remain undiagnosed.[2] MBD mimics are not associated with thiamine deficiency but with cerebral infection, hypoglycemia, epilepsy, antiepileptic drug withdrawal, systemic lupus erythematosus, and high altitude sickness. MBD usually shows altered mental state, memory disturbances, impaired walking, dysarthria, disorientation, and pyramidal signs lasting for several weeks. They show a slow recovery. MBD mimics show mild symptoms and signs with faster recovery. Seizures occur commonly in MBD mimics. MBD may show signs of split-brain syndrome/interhemispheric disconnection.[3]
| Case Report | | |
A 40-year-old male patient was admitted with complaints of loss of memory for 1 month, altered sensorium since 10 days, and irrelevant talk since 10 days. The patient also had a history of decreased appetite for 1 month. The patient also complained of tingling numbness in both lower limbs, especially the feet. He had a history of chronic alcohol intake for about 20 years. He used to take around 300 ml of country liquor daily. The patient had a mixed diet with a regular intake of protein.
There was no history of fever, headache, vomiting, seizure, and loss of consciousness. The patient was a known case of newly diagnosed type 2 diabetes mellitus with no history of hypertension/bronchial asthma/tuberculosis in the past.
On clinical examination patient was found to be malnourished and in altered sensorium (E3V3M4) O/E – P- 82/minute regular all peripheral pulses were felt. BP- 110/80 mm/hg spo2- 98% on room air RR – 16/minute Height-168 cms and weight- 52 kgs BMI -18.4 m2 Pt had mild pallor.
CNS examination
There were no signs of meningism. Pupils were normal size and reacting to light, the patient also had dysarthria. On motor examination, there was hypertonia [spasticity] in both lower limbs, gait imbalance in the form of sensory ataxia was there. Deep tendon reflexes of the upper limb were normal, knee jerk was normal on both sides, and ankle jerk was absent.
Sensory examination
Fine touch and pain were reduced, vibration, and joint position were normal.
Laboratory results revealed an increased WBC count of 17,500. Liver function test showed increased bilirubin (bilirubin total – 1.59, (conjugated)- 1.06, unconjugated – 0.53, SGOT SGPT, and alkaline phosphate were within normal limits). S.vit B12 was 462 and was normal. Blood glucose level fasting was 220 mg/dl, and postprandial was 330 mg/dl HBAIC- 9.1%. Renal function tests were within normal limits. Chest X-ray showed bilateral consolidation in both right lower zone and left lower zone.
CSF Examination was also done with total cells - 2 100% lymphocytes proteins-83.20 glucose -112.
Treatment- The patient had poor glycemic control and was started on injection human actrapid insulin.
The patient was also given thiamine 100 mg and methyl cobalamin 500 mcg and folic acid 5 mg iv in 100 ml of 0.9% normal saline.
The patient was started on antibiotics Inj Piperacillin, and Tazobactam 4.5 gm 6th hourly and Inj Linezolid 600 mg BD and also started on T. Pregabalin 75 mg at night.
MRI imaging
The ill-defined hyperintense lesion is noted in the right basi-temporal lobe involving, bilateral frontal lobes involving the cortex and subcortical both grey and white matter on T2WI and FLAIR, appearing hypointense on T1WI without restriction on DWI. The tiny focus of blooming noted within the lesion in left frontal lobe on GRE suggestive of previous hemosiderin due to old hemorrhage these are likely due to gliosis due to old trauma. Adjoining sulcal spaces are prominent. Lesion of similar signal intensity is noted in the anterior portion of the body of the corpus callosum on the left side. Changes of mild generalized cerebral atrophy are noted with mild prominence of basal cisterns, sulcal spaces and mild ventriculomegaly – disproportionate.
| Discussion | | |
Marchiafava-Bignami disease (MBD) is a rare neurological complication of chronic alcoholism, with the pathognomonic hallmark of corpus callosum demyelination.[4] It was first described by two Italian pathologists, Ettore Marchiafava and Amico Bignami, in 1903.[1] Marchiafava and Bignami described a unique alteration of the corpus callosum in three alcoholic patients who died after having seizures and coma. The clinical presentation of MBD is variable patient may present with signs of alcohol withdrawal namely seizures, tremors, hallucinations, emotional stress, dysarthria, unsteadiness of gait, and hemiparesis. In later stages of the disease, the patient may develop stupor, coma, and death.[5]
It is probably caused by the combination of alcohol abuse and malnutrition, leading to metabolic, toxic, and vascular disturbances.
There are no characteristic clinical presentations of MBD disease. Clinical clues for the disease are reduced consciousness, psychotic and emotional symptoms, depression, apathy, aggression, seizures, hemiparesis, ataxia, apraxia, and frequently leading to coma and death.
Clinically it is divided into acute, subacute, and chronic states. Clinico-radiologically is divided into type a and type b.
Acute MBD may present with seizures, impairment of consciousness, and rapid death.
Subacute MBD presents with variable degrees of mental confusion, dysarthria, behavioral abnormalities, memory deficits, and impairment of gait.
Chronic MBD is characterized by mild dementia, which is progressive over the years.[6]
The recent clinical and neuroradiological classification of MBD describes two subtypes:-
Type A: Acute to Subacute disease may present as altered sensorium, hypertonia, seizures, hyperintense swelling of the corpus callosum on T2-weighted MRI sequences and is associated with poor prognosis.
Type B: normal or impaired level of consciousness, dysarthria, gait imbalance, signs of interhemispheric disconnection, and hyperintense lesions on T2-weighted MRI sequences partially involving the corpus callosum. Type B has a better prognosis, and lesions may reverse, suggesting underlying oedema rather than demyelination.[7]
It is often associated with other manifestations of chronic alcohol abuse like Wernicke's encephalopathy, central pontine myelinolysis, and Morel's laminar sclerosis.
The commonly involved structure is genu, followed by splenium or entire corpus callosum.
Wernicke's encephalopathy usually shows the involvement of periaqueductal grey matter, mammillary bodies, medial thalamus, the hypothalamus.
Demyelination lesions like multiple sclerosis show your typical history, typical distribution of lesions like Dawson's finger, and involvement of callososeptal interface.
Vascular lesions like infarct usually show the discrete distribution and affect a particular area of corpus callosum in ACA in/MCA/PCA territory infarcts.[8]
The main pathologic changes seen in MBD include symmetrical demyelination and necrosis of the central part of the corpus callosum, with relative sparing of dorsal and ventral layers. Rarely, other structures of the CNS like optic chiasma and tracts, cerebellar peduncles may be involved.[9],[10]
In our case, the diagnosis was made on the basis of chronic alcoholism, sensory ataxia, and other salient features, MRI findings which are Small T2 hyperintense lesion in the anterior portion of the body of the corpus callosum on the left side, our case is MBD (Type B – partial callosal lesions Heinrich's classification [Figure 1]. | Figure 1: Small T2 hyper intense lesion in anterior portion of body of corpus callosum on left side suggestive of Marchiafava-Bignami disease (Type B - partial callosal lesions Heinrich's classification)
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The corpus callosum appears hyperintense on T2-WI, hypointense on T1-weighted images.
During the subacute phase, cystic lesions and small foci of T2 hypointense lesions can develop, most likely because of hemosiderin deposition.
In the chronic stage, signal intensity alterations become less evident, but residual atrophy of the involved structure is seen.
FLAIR images show central hypointense signal and peripheral hyperintense rim producing “sandwich sign”, the characteristic sign of Marchiafava-Bignami syndrome More Details.
The Central hypointense signal represents necrosis, and hyperintense signal represents gliosis. Uniform hyperintense lesions indicate a combination of demyelination and oedema.[11]
| Conclusion | | |
Marchiafava-Bignami disease is a syndrome of chronic alcoholism with varying neurological manifestations, and it is often misdiagnosed and mistreated. Detailed neurological examination is needed in these patients, advances in neuroimaging (MRI) has made early diagnosis of MBD possible and it will help in early diagnosis and prompt treatment. In our patient, after successful management for pneumonia and diabetes the patient was discharged, he came for follow-up after 3 weeks with minimal neurological improvement, and he had abstained himself from taking alcohol in this period. He was advised to continue his medication for diabetes.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient forms.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
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