An Epidemiological Case Control Multi-centre Trial on Cerebral Venous Sinus Thrombosis in Western Maharashtra, India.

INTRODUCTION: Cerebral Sino-Venous thrombosis (CSVT) is common in India; this country has a heterogeneous population. Genetically and physio-gnomically this population differs in their diet as well as in their environment. Despite these differences CSVT has been described from all quarters of India; a common factor embracing all these patients could be nutrition. OBJECTIVES: An epidemiological, case- control, multi-centre trial was carried out in patients of CSVT. A common factor underlying this could be nutrition which has not been highlighted in several studies. Hence, we studied the nutritional aspects of these patients. METHOD: 63 patients of CSVT and 62 controls enrolled prospectively and followed for a year were investigated with special emphasis on their nutritional status. RESULTS: The triceps skin fold thickness, energy baseline, serum Proteins, Albumin, Hemogram and Platelet counts were lower in patients than in the controls while serum Homocysteine, carbohydrates and fats were higher in patients than in controls. CONCLUSION: The results of this study confirm nutritional deficiencies in patients of CSVT and it begs the question of whether nutrition in any way is causal in CSVT. Larger multi-centric trials will help establishing causality. The study also shows that routine evaluation of thrombophilia factors and immunological tests are not necessary in CSVT.

MPV17 Gene Variant Mutation Presenting as Leucoencephalopathy with Peripheral Neuropathy.

Mitochondrial DNA depletion syndromes (MDS) are rare mitochondrial disorders with evolving broad genotype and phenotype. This is a first case report from India about MPV 17, a mitochondrial inner membrane protein gene variant mutation, presenting with neuropathy, leucoencephalopathy and subclinical hepatic dysfunction with detailed clinical and imaging description.

Neurological manifestations of B(12) deficiency with emphasis on its aetiology.

BACKGROUND: It is believed that Pernicious anaemia (PA) is more common in the West. We postulate however that in India PA is probably an important aetiological factor as a cause of Vitamin B12 deficiency in patients having neurological disease. OBJECTIVE: To investigate the aetiological factors resulting in Vitamin B12 (Vit B12) deficiency in patients with subacute combined degeneration (SACD) and other neurological manifestations. METHODS: We undertook a prospective study of 50 patients, all clinically suspected to have Vit B12 deficiency; they were investigated clinically, haematologically, biochemically and radiologically. RESULTS: There was a dominance of males (41 of 50) with the majority in the age group of more than 40 years of age. There was no correlation between the socio-economic and dietary status on the one hand and the clinical manifestation on the other. Anti intrinsic factor antibodies (AIFAB) were positive in 19 of 50 patients (38%) and anti parietal cell antibodies (APCAB) were positive in 28 of 50 (56%) patients. CONCLUSION: We conclude that Pernicious anaemia is an important cause of various neurological manifestations including SACD in the Vitamin B12 deficient population in the age group of more than 40 years, irrespective of the socio-economic and dietary status in the Indian subcontinent. It is supported by the presence of AIFAB or APCAB in this group.

Recurrent acute disseminated encephalomyelitis.

Acute disseminated encephalomyelitis (ADEM) is an inflammatory demyelinating condition, which is usually monophasic. Recurrent ADEM is a much less characterized entity and its differentiation from multiple sclerosis (MS) poses a diagnostic challenge. We report a seven year old girl with recurrence of ADEM after 19 months and discuss the diagnostic issues involved.