Sanjith Aaron

Clinical and laboratory features and response to treatment in patients presenting with vitamin B12 deficiency-related neurological syndromes.

AIMS AND OBJECTIVES To study the clinical and laboratory features of patients admitted with vitamin B12 deficiency-related (B12def) neurological syndromes. SETTINGS AND DESIGN A hospital-based retrospective and prospective study conducted at a referral teaching hospital. MATERIALS AND METHODS Consecutive patients admitted with vitamin B12 deficiency-related neurological disorders during a three-year period from June 2000 to May 2003 were included. Data regarding clinical and laboratory features were obtained. Follow-up was done at least six months following treatment with parenteral vitamin B12. Chi-square test was used for statistical analysis. RESULTS A total of 63 patients (52 males) with a mean age of 46.2 years were studied. The mean duration of symptoms at presentation was 10.3 months. Myeloneuropathy (54%) was the commonest neurological manifestation, followed by myeloneuropathy with cognitive dysfunction (34%), and peripheral neuropathy (9%). Neuropsychiatric manifestations and dementia were observed in 38% and 19% of patients respectively. All the patients had megaloblastic changes in the bone marrow smear. Eleven (17.5%) patients had both hemoglobin and the mean corpuscular volume (MCV) within the normal range. Follow-up after at least six months of therapy with parenteral B12 showed improvement in 54% patients. CONCLUSIONS A high index of suspicion of B12def is required in patients presenting with myelopathy, cognitive decline, or neuropathy. A normal hemoglobin or MCV does not exclude B12def; therefore, other tests such as bone marrow smear and serum vitamin B12 assay are essential, as the condition is often reversible with treatment.

Decompressive craniectomy in cerebral venous thrombosis: a single centre experience

Background Cerebral venous thrombosis (CVT) is an important cause for stroke in the young where the role for decompressive craniectomy is not well established. Objective To analyse the outcome of CVT patients treated with decompressive craniectomy. Methods Clinical and imaging features, preoperative findings and long-term outcome of patients with CVT who underwent decompressive craniectomy were analysed. Results Over 10 years (2002–2011), 44/587 (7.4%) patients with CVT underwent decompressive craniectomy. Diagnosis of CVT was based on magnetic resonance venography (MRV)/inferior vena cava (IVC). Decision for surgery was taken at admission in 19/44 (43%), within 12 h in 5/44 (11%), within first 48 h in 15/44 (34%) and beyond 48 h in 10/44 (22%). Presence of midline shift of ≥10 mm (p<0.0009) and large infarct volume (mean 146.63 ml; SD 52.459, p<0.001) on the baseline scan influenced the decision for immediate surgery. Hemicraniectomy was done in 38/44 (86%) and bifrontal craniectomy in 6/44 (13.6%). Mortality was 9/44 (20%). On multivariate analysis (5% level of significance) age <40 years and surgery within 12 h significantly increased survival. Mean follow-up was 25.5 months (range 3–66 months), 26/35 (74%) had 1 year follow-up. Modified Rankin Scale (mRs) continued to improve even after 6 months with 27/35 (77%) of survivors achieving mRs of ≤2. Conclusions This is the largest series on decompressive craniectomy for CVT in literature to date. Decompressive craniotomy should be considered as a treatment option in large venous infarcts. Very good outcomes can be expected especially if done early and in those below 40 years.

Underlying prothrombotic states in pregnancy associated cerebral venous thrombosis

BACKGROUND The exact pathogenesis of pregnancy associated cerebral venous thrombois is still unsettled. Aims : To identify possible inherited and acquired prothrombotic risk factors and also identify the factors associated with mortality in pregnancy associated CVT. SETTINGS AND DESIGN Prospective cohort study to identify prothrombotic risk factors and case control study of influence of local traditional practice of puerperal water restriction on postpartum CVT. MATERIALS AND METHODS Consecutive patients with pregnancy associated CVT seen over a period of three years. Thrombotic workup included genetic markers, protein assays, and other factors. STATISTICAL ANALYSIS Univariate and chi-square analysis. RESULTS Of the 41 patients studied during the study period, 71% of patient had a single and 34% had multiple prothrombotic risk factors. Methylene tetrahydro-folate reductase (MTHFR) heterozygosity (19.5%) and factor V Leiden heterozygous (7.3%) were the commonest genetic markers. Hyperhomocysteinemia (34%) and elevated factor VIII levels (14.6%) were the other important risk factors. In this cohort the mortality was 17%. Mortality increased by odds of 1.3 for every additional prothrombotic marker. The factors associated with increased mortality included: status epileptics (P = 0.05, OR 13.2, 95% CI 1.002 - 173), deep venous system involvement (P = 0.016, OR 9.64, 95% CI 1.53 - 60.6), presence of midline shift (P = 0.012, OR 24.7, 95% CI 2.05 - 29.8) and diffuse cerebral edema (P = 0.006, OR 14.5, 95% CI 2.18- 96.4). The traditional practice of decrease intake of water during puerperium was significant in woman with pregnancy associated CVT when compared to control subjects (P < 0.02). CONCLUSION In patients with pregnancy associated CVT, prothrombotic markers can be multiple and are associated with increased odds of mortality. Deep venous system involvement, presence of midline shift and diffuse cerebral edema increased mortality. Peuperial water restriction may be a modifiable risk factor.

Pulmonary Distress Following Attempted Suicidal Hanging

OBJECTIVE To assess the incidence of post-hanging pulmonary distress in cases of attempted suicidal hanging and predictors of outcome among these patients. DESIGN Five-year retrospective analysis. SETTING Tertiary care center in south India. PATIENTS A total of 335 patients who attempted suicidal hanging, aged above 16 years, were admitted during this period. Thirty-eight of them with pulmonary distress established clinically and with radiological evidence of pulmonary injury post hanging met the inclusion criteria. MEASUREMENTS Data from ICU records of 5 years, X-rays and laboratory investigations were reviewed. In patients identified to have post-hanging pulmonary distress, the neurological status, chest x-rays, arterial blood gas values and outcome data were collected and analyzed. RESULTS Eleven percent (n = 38) of the 335 patients admitted following attempted suicidal hanging were diagnosed to have post-hanging pulmonary distress. The overall mortality among post-hanging patients was 5%, which increased to 34.2% (n = 13) in the presence of pulmonary distress (P < or = 0.001). Among the prognostic factors evaluated, a PaO 2 / FiO 2 (P/F) ratio of < 100 at admission predicted a poor outcome (P < or = 0.001). CONCLUSION Post-hanging pulmonary distress is a relatively common complication of hanging and is associated with increased mortality. P/F ratio from arterial blood gas at admission was the only significant predictor of outcome in this group of patients.

Ophthalmic masquerades of the atherosclerotic carotids

Patients with carotid atherosclerosis can present with ophthalmic symptoms. These symptoms and signs can be due to retinal emboli, hypoperfusion of the retina and choroid, opening up of collateral channels, or chronic hypoperfusion of the globe (ocular ischemic syndrome). These pathological mechanisms can produce many interesting signs and a careful history can bring out important past symptoms pointing toward the carotid as the source of the patients presenting symptom. Such patients are at high risk for an ischemic stroke, especially in the subsequent few days following their first acute symptom. It is important for clinicians to be familiar with these ophthalmic symptoms and signs caused by carotid atherosclerosis for making an early diagnosis and to take appropriate measures to prevent a stroke. This review elaborates the clinical features, importance, and implications of various ophthalmic symptoms and signs resulting from atherosclerotic carotid artery disease.

Mechanical thrombectomy for acute ischemic stroke in pregnancy using the penumbra system

Even though intravenous thrombolysis with tissue plasminogen activator (IV tPA) is the standard of care in acute ischemic stroke, its use in pregnancy is not clearly defined. Mechanical thrombectomy devices can be an option; however, literature on the use of such mechanical devices in stroke in pregnancy is lacking. Here we describe two cases that developed acute embolic stroke during pregnancy who were successfully treated by mechanical clot retrieval using the Penumbra system 28 (Penumbra Inc., Alameda, California, USA). To the best of our knowledge, these are the only case reports on the use of the Penumbra device in pregnant patients with acute ischemic stroke.

Natural history of multiple sclerosis from the Indian perspective: Experience from a tertiary care hospital.

CONTEXT Multiple sclerosis (MS) has a spectrum of heterogeneity, as seen in western and eastern hemispheres, in the clinical features, topography of involvement and differences in natural history. AIM To study the clinical spectrum, imaging, and electrophysiological as well as cerebrospinal fluid (CSF) characteristics and correlate them with outcome. SETTINGS AND DESIGN Retrospective analysis of MS patients during a period of 20 years. SUBJECTS AND METHODS Cases were selected according to recent McDonalds criteria (2010), They were managed in the Department of Neurology, Christian Medical College, Vellore. STATISTICAL ANALYSIS USED Chi-square and Fishers exact tests were used for categorical variables. Multiple binary logistic regressions were done to assess significance. Kaplan-Meier curves were drawn to estimate the time to irreversible disability. RESULTS A total of 157 patients with female preponderance (55%) were included. The inter quartile range duration of follow-up was 9.1 (8.2, 11) years for 114 patients, who were included for final outcome analysis. Relapsing remitting MS (RRMS) (54.1%) was the most common type of MS seen. RRMS had a significantly better outcome (odds ratio: 0.12, 95% confidence interval: 0.02-0.57, P = 0.008) compared to progressive form of MS (primary progressive, secondary progressive). The Expanded Disability Status Scale score of patients at presentation and at final follow-up was 4.4 ± 1.31 and 4.1 ± 2.31, respectively. During the first presentation, polysymptomatic manifestations like motor and sphincteric involvement, incomplete recovery from the first attack; and, during the disease course, bowel, bladder, cerebellar and pyramidal affliction, predicted a worse outcome. CONCLUSION A high incidence of optico-spinal presentation, predominance of RRMS and a low yield on cerebrospinal fluid (CSF) studies are the major findings of our study. A notable feature was the analysis of prognostic markers of disability.

Role of penumbra mechanical thrombectomy device in acute dural sinus thrombosis

Background: In dural venous sinus thrombosis (DVST), the mortality ranges 5–30%. Deep venous system involvement and septic dural sinus thrombosis have a higher mortality rate. In acute occlusion, collateral flow may not be established, which may result in significant edema and mass effect. Endovascular interventions may be considered as a treatment option in appropriate high-risk patients with DVST. Materials and Methods: Eight patients with magnetic resonance imaging (MRI)-confirmed dural sinus thrombosis, who did not respond to the conventional standard medical treatment, were subsequently treated with mechanical thrombectomy using the Penumbra System®. In all cases, medical treatment including anticoagulants were continued following the procedure for a minimum period of 1 year. Results: Recanalization of the dural sinus thrombosis was achieved in all 8 cases. There were no immediate or late endovascular-related complications. One death occurred due to an unrelated medical event. At 6 months, there was notable improvement in the modified Rankin Score (mRS), with 5/8 (62%) patients achieving mRS of 2 or less. The follow-up ranged between 3 months and 26 months (mean: 14.5 months), and there were no new neurological events during the follow-up period. Conclusion: Cerebral venous sinus thrombosis is a rare but life-threatening condition that demands timely diagnosis and therapy. In cases of rapidly declining neurological status despite standard therapy with systemic anticoagulation and anti-edema measures, mechanical thrombectomy could be a lifesaving and effective option. In this study, good outcomes were observed in the majority of patients at long-term follow up.

Stuck with a drowsy patient, evoke the Percheron

BACKGROUND Strokes caused by normal variants of the cerebral circulation can be difficult to diagnose, hence a high index of suspicion is needed. This case series discusses the clinical and radiological aspects of one such stroke caused by occlusion of the artery of Percheron (AOP). MATERIALS AND METHODS Computerized discharge summaries, outpatient records and imaging from picture archiving and communication system (PACS, GE), of patients with AOP infarction over a period of 12-years (2002-2014) were identified and their clinical and radiological features analyzed. RESULTS Of 3589 strokes (both ischemic and hemorrhagic), 17 (0.47%) were due to AOP infarction. Their mean age was 50 years (range: 31-72 years). Disorders of consciousness (94%) were the most common presenting symptoms followed by gaze (53%) and memory impairment (24%). At follow-up, 2/17 (12%) patients developed extrapyramidal features. All patients had bilateral paramedian thalamic infarcts on magnetic resonance imaging (MRI). Associated anterior thalamic (5/17; 30%) and mid brain (10/17; 59%) infarcts were also seen. CT scan done in 11/17 patients prior to the MRI picked up only 6/11 (55%) of these infarcts. The most common etiological factors detected using the Trial of Org 10172 in Acute Stroke Treatment (TOAST) criteria were cardio embolic (8/17; 47%) followed by small vessel occlusion (7/17; 41%). Mortality occurred in 2/17 (12%) patients. At 6 months, a modified Rankin score of 2 or less was seen in 8/17 (47%) patients. CONCLUSIONS Artery of Percheron infarcts should be considered in the differential diagnosis of patients presenting with sudden alterations in consciousness. MRI should be the investigation of choice. An embolic etiology should be actively looked for.

Genetic characterization of Spinocerebellar ataxia 1 in a South Indian cohort

BackgroundSpinocerebellar ataxia type 1 (SCA1) is a late onset autosomal dominant cerebellar ataxia, caused by CAG triplet repeat expansion in the ATXN1 gene. The frequency of SCA1 occurrence is more in Southern India than in other regions as observed from hospital-based studies. However there are no reports on variability of CAG repeat expansion, phenotype-genotype association and founder mutations in a homogenous population from India.MethodsGenomic DNA isolated from buccal mouthwash of the individuals in the cohort was used for PCR-based diagnosis of SCA1. Subsequently SNP’s found within the ATXN1 loci were identified by Taqman allelic discrimination assays. Significance testing of the genotype-phenotype associations was calculated by Kruskal-Wallis ANOVA test with post-hoc Dunnett’s test and Pearson’s correlation coefficient.ResultsBy genetic analysis of an affected population in Southern India we identified 21 pre-symptomatic individuals including four that were well past the average age of disease onset of 44 years, 16 symptomatic and 63 normal individuals. All pre-symptomatic cases harbor “pure” expansions of greater than 40 CAGs. Genotyping to test for the presence of two previously identified SNPs showed a founder effect of the same repeat carrying allele as in the general Indian population. We show that SCA1 disease onset is significantly delayed when transmission of the disease is maternal.ConclusionsOur finding of early disease onset in individuals with a paternally inherited allele could serve as valuable information for clinicians towards early detection of SCA1 in patients with affected fathers. Identification of older pre-symptomatic individuals (n = 4) in our cohort among individuals with a shared genetic and environmental background, suggests that second site genetic or epigenetic modifiers might significantly affect SCA1 disease progression. Moreover, such undetected SCA1 cases could underscore the true prevalence of SCA1 in India.