Neuropsychological impairments in a young-onset Marchiafava–Bignami disease with alcohol-dependence syndrome

Sravanthi Penubarthi; Raghunath Miryala; Vishwak Reddy Vatte; Srinivas Kandrakonda

doi:10.4103/tjp.tjp_31_22

CASE REPORT

Year : 2022 | Volume : 8 | Issue : 2 | Page : 120-123

Neuropsychological impairments in a young-onset Marchiafava–Bignami disease with alcohol-dependence syndrome

Sravanthi Penubarthi, Raghunath Miryala, Vishwak Reddy Vatte, Srinivas Kandrakonda
Department of Psychiatry, Kamineni Institute of Medical Sciences, Nalgonda, Telangana, India

Date of Submission	27-Aug-2022
Date of Decision	05-Nov-2022
Date of Acceptance	05-Nov-2022
Date of Web Publication	16-Dec-2022

Correspondence Address:
Dr. Srinivas Kandrakonda
Department of Psychiatry, Kamineni Institute of Medical Sciences, Narketpally, Nalgonda - 508 254, Telangana
India

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/tjp.tjp_31_22

Abstract

The neuropsychological aspects of Marchiafava–Bignami disease (MBD) have not been reported in detail in the medical literature, despite various reports mentioning that chronic alcoholism is the most common etiology for the same. The condition is predominant in men around the fourth to sixth decades with a mean age of 45 years. To the best of our knowledge, we report a case of early onset of MBD in a 32-year-old man diagnosed with alcohol-dependence syndrome, who presented with cognitive impairment, behavioral issues, and gait abnormalities after a period of loss of consciousness of around 4 days. Along with symptomatic treatment, the patient was given thiamine supplementation, parenteral for a week, followed by oral thiamine. There was a slow improvement in his cognitive symptoms, while the rest of the symptoms improved within a month of starting medications.

Keywords: Alcohol use, cognitive impairment, early age, thiamine supplementation

How to cite this article:
Penubarthi S, Miryala R, Vatte VR, Kandrakonda S. Neuropsychological impairments in a young-onset Marchiafava–Bignami disease with alcohol-dependence syndrome. Telangana J Psychiatry 2022;8:120-3

How to cite this URL:
Penubarthi S, Miryala R, Vatte VR, Kandrakonda S. Neuropsychological impairments in a young-onset Marchiafava–Bignami disease with alcohol-dependence syndrome. Telangana J Psychiatry [serial online] 2022 [cited 2023 Jun 5];8:120-3. Available from: https://tjpipstsb.org/text.asp?2022/8/2/120/363974

Introduction

Marchiafava–Bignami disease (MBD) is a very rare neurodegenerative disorder predominant in men with chronic alcohol consumption or poor nutrition.^[1] Ever since the first description of MBD by Italian pathologists Amico Bignami and Ettore Marchiafava in 1903, only about 300 case reports were published to date.^[2],[3] The condition is generally seen predominantly in males around the fourth to sixth decades with a mean age of 48 years.^[4],[5] A review article of 153 subjects with MBD, published in 2014, reports that altered sensorium (80.4%), gait abnormalities (68.0%), and loss of consciousness (52.3%) are commonly seen symptoms compared to other neurological symptoms reported in the literature.^[5] There are no clear data available on the prevalence of the disease or neuropsychological presentation per se.

We report a young male patient who is diagnosed to have alcohol-dependence syndrome and presented with cognitive and behavioral changes following a history of loss of consciousness for 4 days. On magnetic resonance imaging (MRI), he was detected to have mild diffuse thinning of the corpus callosum, which favors the diagnosis of MBD. There was a slow improvement in his symptoms with nutritional supplementation and cognitive enhancers.

Case Report

A 32-year-old married man with a secondary school education, a farmer by occupation, residing in a rural area, was brought to the psychiatric outpatient department (OPD) with symptoms of memory disturbances, poor self-care, irrelevant talk, gait abnormalities, sleep disturbances, reduced appetite, on and off for the past 2 months and worsened for past 10 days.

There was a history of loss of consciousness 3 months ago after the consumption of 24 units of alcohol, following which the patient was in a coma for 4 days. After regaining consciousness, he had complaints of being not oriented to place and person, memory disturbances, generalized weakness, cravings for alcohol, and occasional anger outbursts. Gradually, his orientation and cravings for alcohol improved, but other symptoms persisted. The patient was admitted for 3 weeks to a private hospital and was discharged with vitamin supplements and anticonvulsants, which they were not compliant with. The patient was discharged 2 months ago and since then slowly he developed presenting complaints on and off, which were increased over the past 10 days.

The patient had a history of occasional alcohol consumption for 7 years, 3–6 units/week. The pattern has increased to daily consumption of 12–16 units of alcohol over the past 3 years. In the past 3 years, the patient reported that he used to consume daily to reduce his physical pains due to work. His last consumption was 3 months ago, 24 units of alcohol. He had frequent episodes of alcoholic gastritis for which he was treated on an OPD basis. He was told multiple times by the treating physician about the other harmful effects of alcohol, despite which the patient continued to consume alcohol. Family members reported that he used to spend most of his days consuming alcohol and neglected his responsibilities at home or work. Whenever he was abstinent from alcohol, he reported having tremors, sleep disturbance, and an urge to consume alcohol, due to which he continued to take alcohol. Despite pressure from his family members for treatment of his dependence on alcohol, the patient never agreed to medical consultation for the same. He was diagnosed with Type-1 Diabetes mellitus 3 years ago, after which his alcohol consumption increased. There was no past or family history of psychiatric illness.

On examination, the pulse rate was 84 beats/min, blood pressure was 120/70 mm of mercury, and body mass index was 22.5 kg/m². General physical and systemic examination revealed no abnormality. No other focal neurological deficits were seen. The direct ophthalmoscopic examination was normal. On mental status examination (MSE), the patient was shabbily dressed, with poor eye contact and rapport, fidgeting, and restless. His speech was coherent, but irrelevant with irritable effect. Other MSE or assessment of cognitive functions could not be done. His present laboratory parameters were within normal limits. The baseline Mini–Mental State Examination (MMSE) score was 12. Based on the history and examination findings, a provisional diagnosis as per the ICD-10 as an organic personality disorder, along with mental and behavioral disorders due to alcohol-dependence syndrome, and currently abstinent (F 07.00 and F10.20) was made. He was started on oral thiamine 100 mg OD, tablet divalproex sodium 500 mg HS, tablet haloperidol 1.5 mg HS, tablet memantine 5 mg OD and tablet pregabalin 75 mg HS.

During the first follow-up after 1 week of starting the treatment, his irritability reduced and was cooperative to the interview. A neuropsychological assessment is done clinically revealed significant impairment in episodic memory, semantic memory, recall memory, performing calculations, finding words, and abstract thinking. However, recognition memory, working memory, chronological loop, and word object association are preserved. The patient is not attached to his wife, kids, or family members. Neuroimaging was advised regarding the history of loss of consciousness and other symptoms with nervous system involvement.

On MRI of the brain, there was diffuse cortical thinning of the corpus callosum [Figure 1]. Considering the presenting complaints along with the report of neuroimaging, the patient was diagnosed with MBD and was started with parenteral thiamine 500 mg TID for 3 days followed by 250 mg BD for 5 days and then oral thiamine 100 mg BD for 2 weeks, followed by once daily dose of oral thiamine. He was started on cognitive enhancers (tablet piracetam and citicoline) and the memantine dose was increased to 10 mg OD. The rest of the medications were continued in the same doses.

Figure 1: Magnetic resonance imaging image of the brain showing diffuse cortical thinning of the corpus callosum (sagittal view). The pointed end of the arrows represent the thinning of corpus callosum

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With these medications, family members started noticing gradual improvement in his behavior within a month after starting medications. There was an improvement in sleep, appetite, and self-care; gait has become normal and no anger outbursts were seen, yet the cognitive deficits remained the same with an MMSE score of 13. The patient was followed up once in fortnight initially for 2 months and later once monthly. After 2 months of follow-up, the patient was on tablet memantine 15 mg OD, tablet thiamine 100 mg OD, and cognitive enhancers. Other psychotropic medications were tapered and stopped. There was a slow improvement in his cognitive symptoms, yet not regained completely even after 6 months. His MMSE scores at the end of the 2^nd, 3^rd, 4^th, 5^th, and 6^th months were 15, 15, 17, 19, and 20, respectively.

Discussion

To the best of our knowledge, this is one of the few cases of MBD with an early age of presentation, i.e., <40 years.^[6],[7] Not many studies discussed neuropsychological assessment or specific domains that were impaired in MBD individuals.

In our patient, clinically, there were gait disturbances as well as impaired consciousness and cognitive impairment, whereas imaging showed mild diffuse cortical thinning of the corpus callosum. This gives a mixed picture based on the classification discussed below. Although there is only mild thinning of the corpus callosum, cognitive impairment in the patient is severe. Considering the slower rate of improvement in the symptoms in our patient, the prognosis could be poor.

Recent classification based on clinical symptoms and findings on neuroimaging is of two types.^[8],[9] Type-A presents with symptoms of impaired consciousness or cognitive deficits, seizures, hemiparesis, or dysarthria. These individuals have hyperintense swelling of the corpus callosum on MRI and are associated with a poor prognosis, whereas those with type B present with gait abnormalities, lesser impairment in consciousness, dysarthria, or interhemispheric disconnection symptoms. In type-B MBD, only partial involvement of the corpus callosum is observed on imaging and has a better prognosis. Literature reports that the more the involvement of corpus callosum, the more severe the cognitive decline and the poor the prognosis.

The research focused on the corpus callosal degeneration and cognitive impairment revealed a semi-partial correlation between the anterior portion of splenium and total MMSE scores, whereas no correlation with other parts of the corpus callosum.^[10] Hallam et al. discussed two possibilities for cognitive impairment in individuals with corpus callosal atrophy. First, the cognitive impairment could be entirely due to degeneration of temporal, parietal, and frontal cortical areas which in turn cause secondary corpus callosal atrophy. An alternative possibility being at least a few cognitive impairments could be due to callosal involvement, and therefore reduced interhemispheric interactions.^[10]

Apart from the gait abnormalities and behavioral complaints, our patient had cognitive impairment. The detailed assessment revealed features suggestive of both cortical and subcortical dementia. The patient had impaired recall memory and difficulty with calculations which favors cortical involvement, whereas gait abnormality reduced psychomotor activity, preserved recognition memory, apathy, and dysphasia favor subcortical involvement.

Conclusion

Along with common neurological complications like Wernicke's encephalopathy, substance use disorders with cognitive impairment should raise the suspicion of rare disorders like MBD. The emphasis on neuroimaging in high-risk psychiatric cases is required to enhance the early diagnosis and management of disorders like MBD.

Declaration from the patient and his wife

The patient and his wife have given informed consent for his MRI image and clinical information to be reported in the journal. They understand that their name or initials will not be published and due efforts will be made to ensure privacy and conceal their identity.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

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