Annals of Indian Academy of Neurology
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   Table of Contents - Current issue
January-February 2020
Volume 23 | Issue 1
Page Nos. 1-144

Online since Tuesday, January 21, 2020

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AIAN goes for SIX p. 1
Vinay Goyal
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Myasthenia gravis: Do the subtypes matter? p. 2
J. M. K Murthy
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Disease specific seasonal influence- geography and economy maters p. 3
Jayantee Kalita, Usha K Misra
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Potential of tiny RNAs as a hope to detect Parkinson's disease p. 5
Kriti Kaushik, Jayanth Kumar Palanichamy
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Grave prognosis of the musclespecific kinase (MuSK)-positive myasthenia gravis (MG): A false prejudice p. 6
Fu Liong Hiew
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Medical conferences and me p. 7
Satish Khadilkar
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Role of 24 hr blood pressure variability as a target therapeutic risk factor for poor functional outcome of acute ischemic stroke p. 9
Dinesh Bhatia, S Bagyaraj, S Arun Karthick
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Thymectomy in Non-Thymomatous Myasthenia Gravis: Does An RCT Solve The 75-Year-Old Controversy? p. 10
Nishita Singh, Vinay Goyal
The role of thymectomy in thymomatous myasthenia gravis (MG) is unambiguous. However, its role in non-thymomatous MG (NTMG) remains debatable. The evidence till date is not robust. In this short review, we try to see the pros and cons of thymectomy in NTMG and critically appraise the evidence available till date.
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Mechanical thrombectomy: Answering unanswered p. 13
Rajsrinivas Parthasarathy, Vipul Gupta
The stroke physician community witnessed a major “breakthrough” in acute stroke therapeutics when the results of the first of the many positive trials, “MR CLEAN,” were published showing a significant absolute benefit in favor of mechanical thrombectomy in patients with large vessel occlusion (LVO). Thereafter, the investigators of ESCAPE, SWIFT PRIME, REVASCAT, THRACE, and PISTE concluded the same. Based on the initial studies, the American Stroke Association amended the 2013 guidelines in 2015 to include mechanical thrombectomy as the standard of care in patients with LVO presenting within six hours. In the past year, the horizon was further expanded when two major landmark trials, DAWN and DEFUSE 3, established the benefit of mechanical thrombectomy in the delayed window period in a select group of patients. It further led to the inclusion of the delayed window period treatment strategies in the 2018 guidelines. However, there are many unanswered questions in scenarios like small deficit with LVO, borderline large core, wake-up stroke (WUS), tandem occlusion, imaging of choice, conscious sedation (CS) versus general anesthesia (GA), and choice of technique. In our review, we aim to answer these questions along with a schematic representation of current techniques used in stroke thrombectomy.
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Apomorphine: The initial indian experience in relation to response tests and pumps p. 20
LK Prashanth, R Jaychandran, Raghavendra Seetharam, Rajesh B Iyer
Background: Apomorphine is an option for continuous dopaminergic therapy in Parkinson's disease (PD). However, its effects in varied populations are limited due to its availability. Objective: To assess the efficacy and outcomes of apomorphine in Indian patients. Materials and Methods: Retrospective analysis of PD patients who underwent apomorphine response test (ART), along with the subset, who went on to apomorphine pumps. Results: Twenty-nine confirmed PD patients underwent ART and all PD patients showed good clinical response. 19 subjects developed adverse events which included: nausea (n-15, 51.7%), vomiting (n-10, 34.4%), sleepiness (n-08; 27.5%), yawning (n-07, 24.1%), postural hypotension (n-03, 10.3%), dizziness (n-03, 10.3%), and profuse sweating (n-01, 3.4%). Apomorphine pumps were initiated in six subjects, with significant clinical improvement. Adverse events on pump included subcutaneous nodules, nausea, hypersexuality. Two among them subsequently discontinued the pump primarily due to financial constraints. Conclusions: Apomorphine adds up to the armamentarium for treatment of PD patients in India with good clinical responses.
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Role of 24-hr blood pressure variability as a target therapeutic risk factor for poor functional outcome of acute ischemic stroke p. 25
Nithisha Thatikonda, Vinod Khandait, Aditya Shrikhande, Krittika Singh
Background and Purpose: The present study aims to evaluate the role of blood pressure variability (BPV) as a target therapeutic risk factor for poor outcome of ischemic stroke by finding the association between the two and by finding the population attributable risk (PAR) of BPV compared to other baseline outcome predictors. Methods: A prospective observational study was carried out at GMCH, Nagpur, India from January to June 2019 in 75 patients diagnosed with acute ischemic stroke. BP was recorded hourly for the first 24 hours of admission and base line factors were collected along with measurement of stroke severity. BPV was measured by index of average real-time variability (ARV) while discharge outcome was measured by Barthel Index. Results: 36.5% of patients had poor outcome at discharge. A significant association was found between 24-hr ARV of systolic BP and poor outcome (P = 0.002, 95% CI = 2.22-23.5). Five factors were found to be independent outcome predictors on multiple logistic regression (OR, 95% CI): age (1.07, 1.03–1.10), NIHSS score (1.12, 1.04–1.27), on admission SBP (5.12, 4.01–16.23), on admission RBS (2.23, 1.92–6.49) and 24 Hr ARV-SBP (9.65, 3.02–20.1). The PAR of 24 hr ARV-SBP was 23.6%, second only to NIHSS score (26.4%). Conclusions: Reduction in BP variability might have a beneficial impact on the outcome of patients with acute ischemic stroke. There is further scope to explore optimum therapeutic strategies to minimize BPV in the management of acute ischemic stroke.
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MuSK (Muscle Specific Kinase) positive myasthenia: Grave prognosis or undue prejudice? p. 32
Priyanka Samal, Vinay Goyal, Mamta B Singh, MV Padma Srivastava
Objectives: Patients with muscle-specific kinase (MuSK)-positive myasthenia are generally considered to have a grave prognosis. We present our experience of patients with myasthenia with different antibody status. This is followed by a short discourse on previous studies and the current view on MuSK-positive myasthenia, focusing on the associated prejudice. Materials and Methods: This study compares 23 patients with MuSK-positive myasthenia with 55 patients with acetylcholine receptor–positive myasthenia and 9 patients with double-seronegative myasthenia at a tertiary level center. Results: We did not find any significant difference in terms of clinical characteristics, treatment response to immunosuppressants, long-term prognosis, and quality of life. Conclusion: Seropositivity for antibodies should not be used in isolation to guide the management or predict the prognosis. Undue negative prognostication may affect the morale of patient. Clinical features and response to therapy in addition to antibody status must be considered before planning therapy.
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Burden faced by caregivers of stroke patients who attend rural-based medical teaching hospital in western India Highly accessed article p. 38
Bhavin Mandowara, Alpa N Patel, Amee A Amin, Ajay Phatak, Soaham Desai
Background: Stroke results in significant caregiver burden and strain. Objective: The main objectives of this study is to assess the burden and its consequences in caregivers of stroke patients and to determine the associated factors to caregivers' burden. Methods: A cross-sectional study was conducted over 1 year on 70 consecutive patients who attended the Shree Krishna Hospital, Karamsad stroke clinic. Demographic and clinical characteristics of all patients were recorded after obtaining the consent. The modified rankin scale and Barthel index were administered to the patient, whereas Caregiver strain index, Caregiver burden scale, Patient Health Questionnaire-9, Generalized Anxiety Disorder-7, and Kuppuswami scale were administered to the patient's caregiver. Descriptive statistics were used to portray demographic and clinical profiles. Correlation coefficients were used to assess the association between different scales, and t-test was applied to assess association of caregivers' burden with different categorical variables. Results: The mean age was 60 years for patients and 47 years for caregivers. Nearly 72.8% of patients were male, whereas 57% of caregivers were female. The mean caregiver burden scale score was 28.26. Caregivers' burden decreased with increase in stroke duration (P = 0.01), increase in education level (P = 0.054), and upper socioeconomic status (P = 0.02). Caregivers' burden increased with caring for male gender (P = 0.18), being a female caregiver (P = 0.31), longer caregiver hours (r = 0.51), and increased patient disability (P < 0.01). A strong correlation existed between caregivers' burden and depression (0.72); anxiety and depression (0.84); caregivers' burden and caregiver strain index (0.72). Conclusions: A structured and targeted caregiver intervention is urgently needed to relieve caregivers' burden and related psychological comorbidities in an Indian setup.
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Predictors of levo-dopa induced dyskinesias in Parkinson's disease p. 44
RT Athulya, S Jayakrishnan, Thomas Iype, Reeja Rajan, Paul J Alapatt
Background: Levodopa has a superior antiparkinsonian effect than dopamine agonists making it the standard of care for patients with Parkinson's disease (PD). During the initial stages, PD patients show a steady response to levodopa. Response fluctuations and levodopa-induced dyskinesias (LID) develop subsequently. The timing and onset of dyskinesias vary among individuals, and there are very few studies identifying the predictors of dyskinesia in India. Aims: We aimed to study the clinical profile, disability, and predictors of LID in a patient with PD. Materials and Methods: This was a cross-sectional observational study of consecutive patients with PD attending our movement disorder clinic. Patients on levodopa treatment with a minimum follow-up of 6 months were included in the study. All patients were observed before and after administration of levodopa to assess onset, duration of action, and timing of dyskinesias. Dyskinesias were video recorded and classified. Bivariate analysis was performed using Chi-square test or Fisher's exact test and multivariate analysis using binary logistic regression. Results: This study recruited 110 patients with PD on levodopa therapy. Thirty-one (28.1%) out of 110 had LID. Of these, 25 patients (80.6%) had on-time dyskinesia, 19 patients (61.3%) had off-time dystonia, and 13 patients (41.9%) had diphasic dyskinesia. Majority had only mild-to-moderate dyskinesia. Incapacitating dyskinesias were during off time, primarily affecting the foot. Age, disease duration, disease severity, duration of treatment, and total dose of levodopa were found to be predictors of LID. Multivariate regression analysis showed younger age and longer duration of levodopa treatment to be independent predictors for LID. Conclusions: LID is fairly common in PD though not severely disabling. Patients with younger age of onset, longer disease duration, and severe disease were more likely to get early LID. We observed the lower prevalence of LID when initiating at lower doses and slow titration of levodopa.
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Serum B12, homocysteine levels, and their effect on peripheral neuropathy in Parkinson's disease: Indian cohort Highly accessed article p. 48
Neeharika L Mathukumalli, Mridula R Kandadai, Jabeen A Shaik, Meena A Kanikannan, Rupam Borgohain
Background: Cobalamin deficiency, either due to dietary inadequacy or increased consumption attributable to levodopa-mediated metabolic disturbance, and resultant hyperhomocysteinemia may contribute to peripheral neuropathy (PN) in Parkinson's disease (PD). Aim: The aim of the study is to assess the prevalence of Vitamin B12 deficiency, hyperhomocysteinemia in Indian PD patients, and their association with PN. Materials and Methods: Clinical details were collected in 93 patients over a period of 2 years. Seventy controls were included in the study. Serum B12, homocysteine, folate, electroneurography, and autonomic function tests were done. The prevalence of B12 deficiency and hyperhomocysteinemia in PD patients and controls was assessed. The association of B12 and homocysteine levels with patients' age, disease duration, levodopa equivalent daily dose, cumulative levodopa dose, Unified Parkinson's Disease Rating Scale-III off score, modified Hoehn and Yahr score, and presence or absence of PN was studied. Results: Serum B12, homocysteine levels, prevalence of B12 deficiency, and hyperhomocysteinemia were no different between cases and controls. Seven of 93 (9.68%) PD patients had PN. The median values of serum B12, folate, and homocysteine levels across patients with or without PN could not be compared as only seven of our patients had PN. Conclusion: The prevalence of B12 deficiency, hyperhomocysteinemia, and incidence of PN among our patients is very less when compared to the Western population. The conjecture that PN in PD patients may be secondary to B12 deficiency/hyperhomocysteinemia stands as a speculation.
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Functional outcome of bilateral subthalamic nucleus-deep brain stimulation in advanced parkinson's disease patients: A prospective study p. 54
Swetha Tandra, Balakrishna Ramavath, Rukmini Mridula Kandadai, SA Jabeen, Meena A Kannan, Rupam Borgohain
Background: Deep brain stimulation (DBS) is an accepted modality of treatment in patients with Parkinson's disease (PD). Although DBS was approved in advanced PD, it is being done in early PD as well. It was mainly developed to help the patients of PD to overcome the adverse motor effects associated with treatment and treatment failure. Objective: The objective is to study the efficacy of subthalamic nucleus (STN)-DBS procedure in patients with PD. Materials and Methods: This was a prospective, single-center, follow-up observational study using a direct, structured interview of 40 selected PD patients. Preoperative assessment using Unified PD Rating Scale-III (UPDRS-III), Montreal Cognitive Assessment (MOCA), and Parkinson's Disease Questionnaire-39 were done. All the patients underwent DBS. Postoperatively, similar assessment was done during follow-up period of 6 months. The results were analyzed using Student's t-test. Results: The total score of UPDRS-III was reduced by 35% after STN-DBS intervention which was statistically significant (P < 0.05). STN-DBS intervention was successful in significantly reducing all UPDRS-III subscores but failed to reduce the scores in case of postural stability. MOCA scores of the patients were not found to be affected by STN-DBS intervention (P = 0.1466). Similar findings were also observed for MOCA subscores, but there was significant improvement of verbal fluency in all patients. Quality of life(QoL) improved significantly in all patients after STN-DBS intervention in all areas. Lower baseline UPDRS-III scores were found to enhance the QoL both in “off” and “on” state. However, prolonged disease duration and older age at PD onset were found to be hampering factors in the improvement of QoL. Conclusions: STN-DBS is a safe procedure and can be performed in all patients of PD who develop disabling motor fluctuations to improve their QoL irrespective early or advanced disease.
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Development and validation of quality of life in Parkinson's disease instrument p. 59
Rajeev Aggarwal, Vinay Goyal, Ravindra Mohan Pandey, Nand Kumar, Sumit Singh, Garima Shukla, Madhuri Behari
Context: Parkinson's disease (PD) has devastating effects on quality of life (QoL), but there is no instrument that has been developed for Hindi-speaking persons with Parkinson's disease (PWP). Objective: The objective of this study was to develop and validate an instrument in Hindi language to measure health-related QoL (HRQoL) in PWP. Subjects and Methods: Literature review and interviews of stakeholders were done to create a pool of 68 items to develop a questionnaire. Self-rated global QoL item was also included in the questionnaire. Questionnaire was tested on 300 Hindi-speaking PWP. Item reduction was achieved through factor analysis and clinimetrics to finalize the QoL in PD (QLPD) instrument. Validity and reliability of the QLPD were tested. Results: “QLPD” is a 45-item instrument with nine subscales, namely, activities of daily living, mobility, psychological, fear, social, family, treatment, finance, and nonmotor symptom subscales. Internal consistency of QLPD's summary score and all subscales except treatment subscale was high (α = 0.74–0.94). Intraclass correlation coefficient between summary score and global QoL was 0.79. Summary score and subscale scores were significantly different (P < 0.0001) for predefined five categories on global QoL (very good to very bad). QLPD subscales exhibited good convergent and divergent validity with subscales of 39-item PD questionnaire and short form-36 scale. Higher Hoehn and Yahr stage, lower monthly per capita income, and higher levodopa equivalent daily dosage were found to be independently associated with poor HRQoL. Conclusion: QLPD is a valid and reliable instrument to measure HRQoL in Hindi-speaking PWP.
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Rationalization of using the MR diffusion imaging in B12 deficiency Highly accessed article p. 72
Hatice B Polat, Ayhan Kanat, Fatma B Celiker, Ahmet Tufekci, Mehmet Beyazal, Gizem Ardic, Arzu Turan
Context: The structural imaging of brain does not demonstrate any changes in the vast majority of patients with vitamin B12 deficiency, even in the advanced stages. Aims: We investigated the microstructural changes in the brain with diffusion imaging among patients with biochemical evidence of B12 deficiency. Patients and Methods: We retrospectively analyzed all diffusion-weighted MRI images between the periods 2014–2016 who had biochemical evidence of B12. The age-sex matched controls were chosen from the group with normal B12 levels. Patients with pathological findings in conventional MRI images were excluded from the study. Results: About 37 patients were recruited (22 women, 15 men; mean age, 34.1 ± 9.9 years; age range). They were about thirty-four age-and sex-matched controls (with normal B12 levels), which were also included in the study. The mean apparent diffusion coefficient (ADC) value of amygdala (773.8 ± 49.9 vs. 742.2 ± 24.2, P = 0.01), hypothalamus (721.3 ± 39.2 vs. 700.2 ± 38.2, P = 0.02), striate cortex (737.6 ± 77.6 vs. 704.3 ± 58.2, P = 0.04), suprafrontal gyrus (740.7 ± 46.9 vs. 711.6 ± 40.7, P = 0.007) and medulla oblongata-olivary nucleus (787.3 ± 56.4 vs. 759.7 ± 46.2, P = 0.02) were significantly higher in B12 deficiency group compared to controls, whereas ADC values were similar at hippocampus, thalamus, insula, corpus striatum, cingulate gyrus, occipital gyrus, dentate nucleus, cerebral pedicle, tegmentum, pons, and posterior medulla oblongata. Conclusions: Our study indicates that a significant increase in ADC values occurs in multiple brain regions in patients with vitamin B12.
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Endovascular Treatment for Acute Tandem Occlusion Stroke: Results from Case Series of 17 Patients Highly accessed article p. 78
Luu Vu-Dang, Quang-Anh Nguyen, Trang Nguyen-Thi-Thu, Anh-Tuan Tran, Cong Le-Chi, Kien Le-Hoang, Thien Nguyen-Tat, An Nguyen-Huu, Thong Pham-Minh, Thien Chu-Dinh, Dinh-Toi Chu
Background and Purpose: Tandem occlusive lesion, a major challenge for thrombectomy in acute anterior circulation strokes, is poorly represented in randomized trials. This study demonstrates the findings of thrombectomy in tandem occlusion and comparative analysis of two treatment groups (extracranial versus intracranial first subgroup). Patients and Methods: We enrolled and divided 17 patients with acute tandem ischemic stroke who received endovascular treatment into two groups. Group 1 with completed (100%) internal carotid artery (ICA) occlusion was treated by an extracranial stent, whereas Group 2 with severe (70%–99%) ICA occlusion was prioritized with intracranial thrombectomy. Data of clinical parameters, imaging and angiographic results, periprocedural complications, and results after 3 months were collected and analyzed. Results: The mean age of patients was 70.2 ± 8.8 years, and males accounted for 94.1%. The National Institutes of Health Stroke Scale and Alberta Stroke Program Early CT Score (ASPECTS) baseline were 16.6 ± 4.2 and 7.6 ± 1.1, respectively, with occlusive side was 52.9% on the right. Group 1 including ten cases (58.8%) was treated extracranial lesion with carotid stent before intracranial thrombectomy, and Group 2 with seven cases (41.2%) was prioritized intracranial thrombectomy. In total 17 procedures, there were ten stent retrievers (58.8%), four aspirations (23.5%), and three Solumbra (17.7%). No re-occlusion of carotid stent postoperation was recorded. The good revascularization (thrombolysis in cerebral infarction 2b-3) was archived in 82.4% of patients, while symptomatic hemorrhage was seen in 2 cases (11.8%). Three months after treatment, patients with favorable clinical outcome (Modified Rankin Scale ≤2) accounted for 47.1%. Conclusion: Our study determined a promising outcome with reasonable good recanalization and clinical recovery for endovascular intervention in tandem ischemic. In the subgroup of treatment, “extracranial stent first” had more complex disease with completed ICA occlusion which required longer procedure time may lead to worse outcome.
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Clinical application of circulating microRNAs in Parkinson's disease: The challenges and opportunities as diagnostic biomarker p. 84
Palaniswamy Ramaswamy, Ravi Yadav, Pramod Kumar Pal, Rita Christopher
Discovery of evolutionarily conserved, nonprotein-coding, endogenous microRNAs has induced a paradigm shift in the overall understanding of gene regulation. Now, microRNAs are considered and classified as master regulators of gene expression as they regulate a wide range of processes – gene regulation, splicing, translation and posttranscriptional modifications. Besides, dysregulated microRNAs have been related to many diseases, including Parkinson's and related disorders. Several studies proposed that differentially expressed microRNAs as a potential biomarker. So far, there is no accepted clinical diagnostic test for Parkinson's disease based on biochemical analysis of biological fluids. However, circulating microRNAs possess many vital features typical of reliable biomarkers and discriminates Parkinson's patients from healthy control with much higher sensitivity and specificity. Though they show tremendous promise as a putative biomarker, translating these research findings to clinical application is often met with many obstacles. Most of the candidate microRNAs reported as a diagnostic biomarker is not organ-specific, and their overlap is low between studies. Therefore this review aimed to highlight the challenges in the application of microRNA in guiding disease discrimination decisions and its future prospects as a diagnostic biomarker in Parkinson's Disease.
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Translation and cross-cultural adaptation of spinal cord independence measure version III in hindi language p. 98
Saurabh Kumar, Khushboo, Preeti Panwar, Somya Garg, Sheetal Kalra, Joginder Yadav
Background: The Spinal Cord Independence Measure (SCIM III) specifically assesses individuals with spinal cord injuries. Objectives: The objective of this study was to translate the SCIM-III into Hindi language to make it available for use in large Indian Hindi speaking population in their native language. Methods: The SCIM III was translated into the Hindi version with a forward–backward translation and made ready for application by a translation committee. The tool was then reviewed by a review committee to check the translation. Then, pilot testing was done, where patients' responses and comments were noted. A sample of 10 patients was recruited for the pilot testing. Results: The scale was translated into Hindi by the liberal and literal methods. Translation and replacement of the words was done in discussion with professional translator in Hindi language and expert committee. After forward–backward translation and clinical review submitting the final version and then pilot study was done on 10 patients (7 males and 3 females) of spinal cord injury. The mean age is 27.1 years and mother tongue of all the patients was Hindi (100%). Conclusion: The Hindi version of the SCIM III is easy and understandable to the large Hindi speaking Indian population.
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Glioblastoma multiforme associated with arteriovenous malformation: A case report and literature review Highly accessed article p. 103
Thara Tunthanathip, Kanet Kanjanapradit
Although microvascular proliferation can be observed in glioblastoma, obvious vascularity coupled with coexisting cerebral arteriovenous malformation (AVM) is extremely rare. This report is of a rare case of glioblastoma, coexisting with a cerebral AVM. A 20-year-old male presented with progressive right hemiparesis within 1 month. Cranial magnetic resonance imaging revealed a large bleeding tumor with surrounding dilated vessels. Cerebral angiography demonstrated a left frontal AVM with a 1.2 cm nidus. The patient underwent preoperative embolization and radical resection. The coincidence of glioma and AVM was a rare association. However, the concept of hypervascular glioblastoma has been used in different states from different literature reviews; therefore, the role of proangiogenic factors should be addressed
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Supratentorial Listeria monocytogenes Brain Abscess in a Patient with Liver Cirrhosis p. 107
Romulo Omar Flores-Perez, Cesar Daniel Villarreal-Villarreal, Jesus Alberto Cardenas-de La Garza, Dionicio Angel Galarza-Delgado
Meningitis and meningoencephalitis account for the majority of central nervous system infections by Listeria monocytogenes (Lm). Macroscopic listerial brain abscess is a rare infection. Early recognition of Listeria brain abscesses represents a major diagnostic challenge. Mortality from Listeria brain abscesses is high but can be reduced when appropriate treatment is timely started. Immunosuppressed patients are more often affected, and a high suspicion is needed for prompt identification. Treatment should be individualized taking into account the comorbidities, lesion size and location, bacterial resistance, and clinical and radiological response. We present a case of a supratentorial Lm brain abscess in a patient with liver cirrhosis whose family denied surgical management, and despite the large size, clinical and radiological success was achieved with 4 weeks of ampicillin.
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Sjögren's Syndrome with Cerebral Venous Sinus Thrombosis: A Case Report and Literature Review p. 110
Yue Lang, Weiguanliu Zhang, Xiujuan Wu, Fang Deng, Li Cui
Cerebral venous sinus thrombosis (CVST) is a cerebrovascular disease that is caused by a number of factors, including hypercoagulability and vessel wall damage. Sjögren's syndrome (SS) is a chronic inflammatory autoimmune disease characterized by lymphocyte infiltration of the exocrine glands. CVST could be caused by autoimmune diseases. According to previous reports, the most frequently reported autoimmune diseases which could cause CVST are systemic lupus erythematosus and antiphospholipid syndrome. Reports of SS leading to CVST are scarce. Here, we present a case of a 51-year-old woman who was diagnosed with SS-induced CVST. We tease out knowledge about the pathogenesis, feature of clinic symptom, treatment, and prognosis of SS-associated CVST, and illustrates how a detailed patient history can contribute to an accurate diagnosis.
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Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency p. 113
Sangeetha Yoganathan, Gautham Arunachal, Lisa Kratz, Mugil Varman, Maya Thomas, Sniya Valsa Sudhakar, Samuel Philip Oommen, Sumita Danda
Succinic semialdehyde dehydrogenase (SSADH) deficiency is an autosomal recessive disorder of gamma-aminobutyric acid metabolism. Children with SSADH deficiency usually manifest with developmental delay, behavioral symptoms, language dysfunction, seizures, hypotonia, extrapyramidal symptoms, and ataxia. Diagnosis of SSADH deficiency is established by an abnormal urine organic acid pattern, including increased excretion of 4-hydroxybutyric acid and the identification of biallelic pathogenic variants in aldehyde dehydrogenase 5 family, member A 1 (ALDH5A1) gene. Here, we describe a 15-month-old girl with SSADH deficiency presenting with developmental delay, language deficits, and acute-onset right hemiparesis, following recovery from a diarrheal illness. Brain magnetic resonance imaging revealed hyperintense signal changes involving the left globus pallidus in T2-weighted images with restriction of diffusion in the diffusion-weighted images. Increased excretion of 4-hydroxybutyric acid, threo-4,5-dihydroxyhexanoic acid lactone and erythro-4,5-dihydroxyhexanoic acid lactone was detected by urine organic acid analysis and a diagnosis of SSADH deficiency was confirmed by the identification of homozygous pathogenic variant in ALDH5A1. Stroke mimic is a novel presentation in our patient with SSADH deficiency. She was initiated on treatment with vigabatrin and has shown developmental gains with the recovery of right hemiparesis. Follow-up neuroimaging shows near complete resolution of signal changes in the left globus pallidus, while there was subtle hyperintensity in the right globus pallidus. The phenotypic spectrum of SSADH deficiency is widely expanding, and this disorder should be considered in the differential diagnosis of children with metabolic stroke.
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Hypereosinophilia as a cause of recurrent stroke p. 118
Srikant Venkatakrishnan, Anupam Gupta, Meeka Khanna, Madhu Nagappa, Cecil Ross
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A comparative study of IVIG versus IVIG with IV methylprednisolone in guillain–barre syndrome p. 120
Rahi Kiran Bhattiprolu, Vijay Sardana, Dilip Maheshwari, Bharat Bhushan, Prashant Shringi, Pallav Jain, Vaishal Shah, Bhavin Patel
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A novel mutation in N-terminal actin-binding domain of the DMD gene presenting becker muscular dystrophy as recurrent exertional rhabdomyolysis: A case report p. 123
Jong-Mok Lee
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Novel MRI finding of bilateral globus pallidal involvement in accelerated phase of Chédiak -Higashi Syndrome p. 126
Minal V Kekatpure, Venkatraman Bhat
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Cervical artery dissection-related stroke: Vascular risk factors may have a role p. 129
Salil Gupta, V Sharath Kumar
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ANCA-associated hypertrophic spinal pachymeningitis presenting with longitudinally extensive transverse myelitis: A case report p. 131
Jun Shu, Chunhui Gu, Yiqing Ren, Wenshi Wei
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A case of paraneoplastic neurological syndrome expressing dual antineuronal antibodies: Anti-hu and recoverin p. 133
Ho-Sung Ryu, Shin Yup Lee, Dong Ho Park, Jong-Mok Lee
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Acute Ischemic Stroke Due to Multiple Bee Stings_A Delayed Complication p. 135
Arunmozhimaran Elavarasi, Thekkumpurath M Haq, Thekkumpurath Thahira, Cheminikkara Bineesh, Laxmana B Kancharla
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Stroke as an initial manifestation of thiamine-responsive megaloblastic anemia p. 136
Priyanka Madaan, Prashant Jauhari, Shruthi N Michael, Aditi Sinha, Biswaroop Chakrabarty, Sheffali Gulati
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Danon Disease with Internal Carotid Artery Occlusion Showing Good Clinical Outcome Due to Robust Collaterals p. 139
Mi Young Lee, Bon D Ku, Sang Joon An, Hyeyun Kim, Su-Jin Lee, YeongIn Kim
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A Randomized Control Study on the Efficacy of Thymectomy in Patients with Nonthymomatous (without Chest Tumor) Myasthenia Gravis p. 141
Ji Chen, Zhiming Chen, Feng Miao, Yang Song, Gang Chen, Yongjun Zhu, Liewen Pang, Jianying Xi, Chongbo Zhao, Xiaofeng Chen
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