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1.  Influence of trial design, heterogeneity and regulatory environment on the results of clinical trials: An appraisal in the context of recent trials on acute stroke intervention 
The outcome of randomized controlled trials can vary depending on the eligibility criteria of the patients entering into the trial, as well as the heterogeneity of the eligible population and/or the interventions. If the subject population and/or interventions are heterogeneous, the final outcome of the trial depends on the degree of concordance of effects of the subgroups of interventions on the subgroups of the subject population. The considerations that go into the calculation of sample size and determination of the study stopping rules also would affect the nature of the outcome of the study. In this paper we try to examine these phenomena with respect to the recent trials on endovascular therapy in acute ischemic stroke.
doi:10.4103/0972-2327.143984
PMCID: PMC4251006  PMID: 25506154
Heterogenity in clinical trials; discordant subgroups; endovascular acute stroke intervention; SYNTHESIS Expansion; IMS III; MR Rescue; SWIFT
2.  Bobbling head in a young subject 
Bobble-head Doll Syndrome is a rare and unique movement disorder found in children. Clinically, it is characterized by a to and fro or side to side movement of the head at the frequency of 2 to 3 Hz. It is mostly associated with cystic lesions around the third ventricle, choroid plexus papilloma, aqueductal stenosis and other rare disorders. An eleven year old child presented in the outpatient department with continuous to and fro movement of the head and declining vision for the last one month. MRI Scan showed a large contrast-enhanced lesion in the region of the third ventricle along with gross hydrocephalus. Ventriculo-peritoneal shunt was inserted and the movements of the head disappeared completely. Bobble-head doll syndrome is a rare condition and therefore this case is presented and the literature reviewed.
doi:10.4103/0972-2327.143992
PMCID: PMC4251007  PMID: 25506155
Bobble-head Doll Syndrome; third ventricular tumour; hydrocephalus; ventriculo-peritoneal shunt
3.  Neuropsychological deficits in temporal lobe epilepsy: A comprehensive review 
Temporal lobe epilepsy (TLE) is the most prevalent form of complex partial seizures with temporal lobe origin of electrical abnormality. Studies have shown that recurrent seizures affect all aspects of cognitive functioning, including memory, language, praxis, executive functions, and social judgment, among several others. In this article, we will review these cognitive impairments along with their neuropathological correlates in a comprehensive manner. We will see that neuropsychological deficits are prevalent in TLE. Much of the effort has been laid on memory due to the notion that temporal lobe brain structures involved in TLE play a central role in consolidating information into memory. It seems that damage to the mesial structure of the temporal lobe, particularly the amygdale and hippocampus, has the main role in these memory difficulties and the neurobiological plausibility of the role of the temporal lobe in different aspects of memory. Here, we will cover the sub-domains of working memory and episodic memory deficits. This is we will further proceed to evaluate the evidences of executive function deficits in TLE and will see that set-shifting among other EFs is specifically affected in TLE as is social cognition. Finally, critical components of language related deficits are also found in the form of word-finding difficulties. To conclude, TLE affects several of cognitive function domains, but the etiopathogenesis of all these dysfunctions remain elusive. Further well-designed studies are needed for a better understanding of these disorders.
doi:10.4103/0972-2327.144003
PMCID: PMC4251008  PMID: 25506156
Neuropsychological deficits; temporal lobe epilepsy; neurological correlates
4.  Next-generation sequencing and genetic diagnosis of Charcot-Marie-Tooth disease 
Over 70 different Charcot-Marie-Tooth disease (CMT)–associated genes have now been discovered and their number is growing. Conventional genetic testing for all CMT genes is cumbersome, expensive, and impractical in an individual patient. Next-generation sequencing (NGS) technology allows cost-effective sequencing of large scale DNA, even entire exome (coding sequences) or whole genome and thus, NGS platform can be employed to effectively target a large number or all CMT-related genes for accurate diagnosis. This overview discusses how NGS can be strategically used for genetic diagnosis in patients with CMT or unexplained neuropathy. A comment is made to combine simple clinical and electrophysiological algorithm to assign patients to major CMT subtypes and then employ NGS to screen for all known mutations in the subtype-specific CMT gene panel.
doi:10.4103/0972-2327.144004
PMCID: PMC4251009  PMID: 25506157
CMT; exome; genetic testing; genome; next-generation sequencing
5.  Clinical profile and genetic correlation of patients with spinocerebellar ataxia: A study from a tertiary care centre in Eastern India 
Background:
Progressive cerebellar ataxia inherited by autosomal dominant transmission is known as Spino Cerebellar Ataxia (SCA).
Aims and Objectives:
To look for various clinical profile and molecular genetics of patients with SCAs and their phenotype-genotype correlation of patients with SCAs.
Materials and Methods:
This was a cross-sectional study conducted at Bangur Institute of Neurosciences, Kolkata from June 2010 to April 2013. We selected patients from the neurogenetic clinic of our institute and performed genetic test for SCA 1, 2, 3, 6 and 12. The diagnosis was based on suggestive clinical features and positive genetic study, done by polymerase chain reaction.
Results:
83 patients were tested for trineucleotide repeats and turned out 45 positive for the mentioned SCAs. We found 13(28.9%) SCA-1, 18(40%) SCA-2, 7(15.6%) SCA-3, 6(13.3) SCA-6 and 1(2.2%) SCA-12 patients. Half of the remaining 38 patients had positive family history. The mean age of onset were 38.46 years in SCA-1, 29.55 years in SCA-2, 38.43 years in SCA-3, 47.33 years in SCA-6. Slow saccades were observed in 7(53.8%) SCA-1, 17(94.4%) SCA-2, 4(57.1%) SCA-3, 3(50%) SCA-6 patients. Hyporeflexia was noticed in 5(27.8%) SCA-2 patients. Pyramidal tract involvement was found in 8(61.5%) SCA-1, 4(22.2%) SCA-2, 4(57.1%) SCA-3 and 1(16.7%) SCA-6 patients.
Conclusion:
Our study showed SCA-2 is the most common variety of SCA and genotypic-phenotypic correlation was observed in SCA-1,2,6 and 12 patients.
doi:10.4103/0972-2327.144005
PMCID: PMC4251010  PMID: 25506158
SCA; SCA genetics; spinocerebellar ataxia; spinocerebellar ataxia genetics
6.  Posterior quadrant disconnection for refractory epilepsy: A case series 
Objective:
To analyze the surgical outcome and safety of posterior quadrant disconnection in medically refractory epilepsy arising from the posterior head region from a level IV tertiary care center over a period of three years.
Materials and Methods:
Seven consecutive patients who underwent posterior quadrant disconnection for refractory epilepsy were analyzed.
Results:
We analyzed the data of seven (n = 7) consecutive posterior quadrant epilepsy patients who underwent posterior quadrant disconnection with a mean age of 8.5 years over the last three years of which 4 were male and 3 females. All patients underwent extensive pre-surgical evaluation including detailed history, examination, prolonged video EEG recordings, neuropsychological testing, MRI brain, DTI, PET scan (n = 6), fMRI (n = 4), WADA test (n = 1) and invasive recording (n = 1), Of seven patients four had left sided pathology and three had right sided pathology. All patients except one underwent pure disconnection and one underwent partial resection.
Conclusion:
Posterior quadrant disconnection is effective surgical procedure for medically refractory epilepsy arising from the posterior quadrant in carefully selected patients without morbidity or functional disability across various age groups especially in children. In our series, all seven patient had good seizure outcome and none had functional disabilities.
doi:10.4103/0972-2327.144006
PMCID: PMC4251011  PMID: 25506159
Posterior quadrant disconnection; posterior quadrant dysplasia; posterior quadrant epilepsy; refractory epilepsy
7.  Low plasma antioxidant status in patients with epilepsy and the role of antiepileptic drugs on oxidative stress 
Background:
Oxidative stress has been implicated in various disorders including epilepsy. We studied the antioxidant status in patients with epilepsy and aimed at determining whether there was any difference in the antioxidant levels between patients and controls, patients who are not on antiepileptic drugs (AEDs), and on treatment, between individual AEDs and patients on monotherapy and polytherapy.
Materials and Methods:
Antioxidant levels like catalase, glutathione peroxidase (GPx), vitamin E, glutathione (GSH), thiol group (SH), uric acid, and total antioxidant capacity (TAC) were compared between 100 patients with epilepsy and equal number of controls. Twenty-five patients who were not on AEDs were compared with patients on AEDs and the control group. Patients were divided into monotherapy and polytherapy group and antioxidant status was compared between the two groups and between individual drugs.
Results:
Catalase, SH, vitamin E, and TAC were significantly low in patients with epilepsy than those in the control group (P < 0.001). GSH and uric acid did not show any difference; GPx in patients was significantly higher than those in the control group There were no differences in the antioxidant levels between the treated and the untreated groups; however, it was lower in untreated patients than controls (P < 0.001), suggesting that AEDs do not modify the oxidative stress. Patients on Valproate (VPA) showed higher catalase and GPx levels. Catalase was higher in the monotherapy than polytherapy group (P < 0.04).
Conclusion:
Our study found significantly low levels of antioxidant in patients as compared to controls. AED did not influence the antioxidant status suggesting that seizures induce oxidative stress.
doi:10.4103/0972-2327.144008
PMCID: PMC4251012  PMID: 25506160
Antiepileptic drugs; catalase; epilepsy; glutathione; glutathione peroxidase; seizures; thiol goup; total antioxidant capacity; uric acid; vitamin E
8.  What patients do to counteract the symptoms of Willis-Ekbom disease (RLS/WED): Effect of gender and severity of illness 
Objectives:
This study was carried out to assess different counteracting strategies used by patients with idiopathic Willis-Ekbom disease (RLS/WED). Whether these strategies were influenced by gender or disease severity was also assessed.
Materials and Methods:
A total of 173 patients of idiopathic RLS/WED were included in this study. Their demographic data was recorded. Details regarding the RLS/WED and strategies that they used to counteract the symptoms were asked. The severity of RLS/WED was measured with the help of the Hindi version of international restless legs syndrome severity rating scale. They were asked to provide the details regarding the relief obtained from all the strategies they used on three-point scale: no relief, some relief, and complete relief.
Results:
Of the patients, 72% were females. Mean age of the subjects in this study was 39.6 ± 12.6 years, and male subjects were older than females. Four common strategies were reported by the patients to counter the sensations of RLS/WED: moving legs while in bed (85.5%), asking somebody to massage their legs or massaging legs themselves (76.9%), walking (53.2%), and tying a cloth/rope tightly on the legs (39.3%). Of all the patients who moved their legs, 6.7% did not experience any relief, 64.2% reported some relief, and 28.4% reported complete relief. Similarly, of all the patients who used “walking” to counteract symptoms, 50% reported complete relief, 44.5% reported some relief, and the rest did not experience any relief. Many of these patients reported that massage and tying a cloth/rope on legs brought greater relief than any of these strategies. Tying cloth on the leg was more common among females as compared to males (45.9% females vs. 23.5% males; χ2 = 7.54; P = 0.006), while patients with moderately severe to severe RLS/WED reported “moving legs in bed” (79.3% in mild to moderate RLS/WED; 91.8% in severe to very severe RLS; χ2 = 5.36; P = 0.02).
Conclusion:
Patients with RLS/WED use a variety of strategies to counteract symptoms. These strategies may be influenced by gender, disease severity, and cultural practices.
doi:10.4103/0972-2327.144010
PMCID: PMC4251013  PMID: 25506161
Counter-acting strategies; gender; severity; Willis-Ekbom disease (RLS/WED)
9.  Magnitude of peripheral neuropathy in cirrhosis of liver patients from central rural India 
Context:
Cirrhosis of liver is an important cause of morbidity and mortality and if associated with peripheral neuropathy (PN) it also poses a huge financial, psychological burden for the patients and their families.
Aim:
The aim of the present study was to study the magnitude of PN among subjects with cirrhosis of liver presenting to tertiary care teaching hospital in central rural India.
Settings and Design:
A cross-sectional study was performed in a tertiary care teaching hospital.
Materials and Methods:
In all patients of cirrhosis of liver irrespective of etiology, aged 15 and above, undergone clinical assessment for peripheral nervous systems damage and confirmed by nerve conduction studies.
Statistical Analysis Used:
We used chi square test to study associations. P value ≤0.05 was considered as significant. Crude odds ratios were computed to assess the strength of association between independent variables and dependent variables along with their 95% confidence intervals.
Results:
We included 207 of cirrhosis of liver patients admitted in medicine department from November 2010 through November 2013. Nearly 83% patients were male and 63.2% patients were under the age of 45 years. Common features in these patients were ascites (71%) splenomegaly (63.3%) pedal edema (61.4%) icterus (46.4%) tingling (44.9%) gastrointestinal bleeding(39.1%), ataxia (26.6%), numbness(26.6%), distal motor weakness (21.7%) and paresthesia(20.8%). Among the manifestation of peripheral nerve involvement, loss of ankle reflex was the most common feature in 51.7%, followed by loss of temperature sense 29.5%, loss of vibration sense 20.8%, loss of touch 16.4%, loss of position sense 14.5% and loss of pain in 6.3% of the patients. Peripheral neuropathy was found in 53.6% [95% CI: 46.58- 60.56] study subjects on electrophysiological study.
Conclusions:
Analysis of electrophysiological study shows that the PN is very common in study subjects with cirrhosis of liver, especially in male subjects, during the middle age group.
doi:10.4103/0972-2327.144012
PMCID: PMC4251014  PMID: 25506162
Chronic liver disease; cirrhosis of liver; nerve conduction studies; peripheral neuropathy
10.  Sleep disturbances in drug naïve Parkinson's disease (PD) patients and effect of levodopa on sleep 
Context:
Parkinson's disease (PD) is associated with sleep disturbances, attributed to the neurodegenerative process and therapeutic drugs. Studies have found levodopa to increase wakefulness in some patients while increasing sleepiness in others.
Aims:
To confirm sleep disturbances in drug naïve PD patients and understand the impact of levodopa on their sleep.
Materials and Methods:
Twenty-three drug naïve PD patients and 31 age-gender matched controls were compared using the Parkinson's Disease Sleep Scale (PDSS) and Epworth Sleepiness Scale (ESS). A polysomnogram objectively compared sleep quality. Of the 23 patients, the 12 initiated on levodopa were reassessed subjectively and through polysomnography after 2 months of therapy.
Statistical Analysis:
Data was expressed as mean ± standard deviation, median, and range. Continuous variables were analyzed by Student's T test for normally distributed data and Mann–Whitney U test for skewed data. Discrete variables were compared by Chi Square tests (Pearson Chi square Test or Fisher's Exact Test). Wilcoxon signed ranks test was applied in the analysis of paired data pre- and post-levodopa. A P value < 0.05 was considered as statistically significant. Statistical analysis of the data was done using the Statistical Package for the Social Sciences (SPSS) version 12.
Results:
Drug naïve PD patients had lower PDSS scores than controls. The sleep architecture changes observed on polysomnogram were reduced NREM Stage III and REM sleep and increased sleep latency and wake after sleep onset time. Following levodopa, improved sleep efficiency with reduced sleep latency and wake after sleep onset time was noted, coupled with improved PDSS scores. However, NREM Stage III and REM sleep duration did not increase.
Discussion:
PD patients take longer to fall asleep and have difficulty in sleep maintenance. Sleep maintenance is affected by nocturia, REM behavioral disorder, nocturnal cramps, akinesia, and tremors, as observed in PDSS scores. Levodopa improves sleep efficiency by improving motor scores without altering sleep architecture.
Conclusions:
Poor sleep quality and sleep architecture changes occur secondary to the neurodegenerative process in PD patients. Though levodopa improves sleep quality by reducing rigidity and tremor, it does not reverse sleep architecture changes.
doi:10.4103/0972-2327.144016
PMCID: PMC4251015  PMID: 25506163
Levodopa on Parkinson's disease sleep; levodopa on sleep; sleep in Parkinson's disease
11.  A pilot study on utility of Malayalam version of Addenbrooke's Cognitive Examination in detection of amnestic mild cognitive impairment: A critical insight into utility of learning and recall measures 
Aims:
This pilot study sought to determine whether the Malayalam adaptation of Addenbrooke's Cognitive Examination (M-ACE) can effectively identify patients with amnestic mild cognitive impairment (a-MCI) and the impact of measures of learning and free recall.
Materials and Methods:
A cohort of 23 patients with a-MCI aged between 55-80 years diagnosed as per current criteria and 23 group matched cognitively normal healthy controls (CNHC) were studied. The measures of acquisition and delayed recall were the Rey Auditory Verbal Learning Test (RAVLT) and Wechsler Memory Scale (WMS)-III (verbal and visual subsets) and Delayed Matching-to-sample Test (DMS)-48. Test scores of M-ACE registration and recall scores were included. To examine the differences in test performances between the groups, we compared the number of subjects with test scores less than 1.5 standard deviation (SD) of the control scores. Comparisons between a-MCI and controls were drawn using Fisher's exact test and Mann-Whitney U tests.
Results:
M-ACE registration component ascertained on a 24-point scale failed to demonstrate any differences between a-MCI and controls (P = 0.665) as opposed to recall judged on a cumulative 10-point scale (P = 0.001). Significant differences were noted in RAVLT list learning (P < 0.001) and list recall (P = 0.003), WMS-III paragraph learning (P <0.001) and recall (P = 0.007), visual learning (P = 0.004) and recall (P = 0.001).
Conclusions:
M-ACE recall scores are an effective screening tool to identify patients with suspected a-MCI. Both word list and paragraph learning and recall components have been found to be sensitive to concretely identify a-MCI and impairment on at least 2 tests should be considered in the diagnostic criteria of MCI rather than rely on a single screening battery.
doi:10.4103/0972-2327.144018
PMCID: PMC4251016  PMID: 25506164
Learning; mild cognitive impairment; neuropsychology; recall
12.  Chronic meningitis in systemic lupus erythematosus: An unusual etiology 
Chronic aseptic meningitis is a rare manifestation of systemic lupus erythematosus (SLE). Apart from immunological causes and drugs, the aseptic meningitis group can include some unidentified viral infections that cannot be detected by routine microbiological testing. It is imperative to do complete cerebrospinal fluid (CSF) workup before implicating the symptoms to disease activity or drugs, as untreated infections cause significant mortality in SLE. We present a case of young female with SLE who presented with chronic meningitis of an uncommon etiology.
doi:10.4103/0972-2327.144019
PMCID: PMC4251017  PMID: 25506165
Herpes simplex virus; HSV-2; lupus; meningitis; systemic lupus erythematosus
13.  Langerhans cell histiocytosis of atlantoaxial joint in a middle-aged man presenting with deafness as first symptom and soft-tissue mass at neck showing excellent response to radiotherapy alone: Report of an extremely rare and unusual clinical condition and review of literature 
Langerhans cell histiocytosis (LCH) is a disorder of clonal proliferation of dendritic cell mainly occurring in children. Spine involvement is rare. This usually presents with pain and torticollis when neck is involved. Histopathology with immunohistochemistry is confirmatory. Local curative therapy with excision or curettage is used for localized disease. Radiotherapy is usually reserved for selected cases. Systemic chemotherapy is the treatment of choice for widespread systemic disease. In this article, we present an unusual presentation of atlantoaxial LCH with mastoid involvement resulting in hearing loss as the first symptom and quadruparesis in a middle aged male patient, which was also associated with soft-tissue mass at the nape of the neck and deafness. The patient was treated with radical radiotherapy, which provided excellent response to the disease. Involvement of atlantoaxial joint and temporal bone associated with soft-tissue mass neck and deafness in a middle-aged man is an extremely rare clinical situation.
doi:10.4103/0972-2327.144022
PMCID: PMC4251018  PMID: 25506166
Atlanto-axial joint; deafness; Langerhans cell histiocytosis; male; radiotherapy
14.  Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME): Probable first family from India 
Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME) is an extremely rare syndrome characterized by familial occurrence of postural and action-induced tremors of the hands but showing electrophysiologic findings of cortical reflex myoclonus. Patients also have cognitive decline and tonic-clonic seizures, often precipitated by sleep deprivation or photic stimulation. We describe probably the first family from India of this ill-defined syndrome.
doi:10.4103/0972-2327.144025
PMCID: PMC4251019  PMID: 25506167
Cortical tremor; myoclonus; photic stimulation
15.  Importance of acylcarnitine profile analysis for disorders of lipid metabolism in adolescent patients with recurrent rhabdomyolysis: Report of two cases 
Metabolic myopathies due to disorders of lipid metabolism are a heterogeneous group of diseases. Newborns may present with hypotonia and convulsions, while progressive proximal muscle weakness or recurrent episodes of muscle weakness accompanied by rhabdomyolysis/myoglobinuria may be seen in older ages. There is little knowledge on detection of disorders of lipid metabolism by acylcarnitine profile (ACP) analysis by tandem mass spectrometry outside the neonatal period particularly in cases with recurrent rhabdomyolysis first presenting in adolescence and adulthood. Two adolescent female cases presented with episodes of rhabdomyolysis and muscle weakness. A 13-year-old patient had five episodes of rhabdomyolysis triggered by infections. Tandem mass spectrometry was normal. A 16-year-old female patient was hospitalized eight times due to recurrent rhabdomyolysis. Increased levels of C14:2, C14:1, and C14 were determined in tandem mass spectrometry. Final diagnoses were carnitine palmitoyltransferase II (CPT II) deficiency and very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. Increased serum levels of long-chain acylcarnitine can guide to the diagnosis of lipid metabolism disorders. Serum ACP should be performed before enzyme assay and genetic studies.
doi:10.4103/0972-2327.144031
PMCID: PMC4251020  PMID: 25506168
Carnitine palmitoyltransferase II deficiency; recurrent rhabdomyolysis; acylcarnitine profile; very long-chain acyl-CoA dehydrogenase deficiency
16.  A case of congenital myopathy masquerading as paroxysmal dyskinesia 
Gastroesophageal reflux (GER) disease is a significant comorbidity of neuromuscular disorders. It may present as paroxysmal dyskinesia, an entity known as Sandifer syndrome. A 6-week-old neonate presented with very frequent paroxysms of generalized stiffening and opisthotonic posture since day 22 of life. These were initially diagnosed as seizures and he was started on multiple antiepileptics which did not show any response. After a normal video electroencephalogram (VEEG) was documented, possibility of dyskinesia was kept. However, when he did not respond to symptomatic therapy, Sandifer syndrome was thought of and GER scan was done, which revealed severe GER. After his symptoms got reduced to some extent, a detailed clinical examination revealed abnormal facies with flaccid quadriparesis. Muscle biopsy confirmed the diagnosis of a specific congenital myopathy. On antireflux measures, those episodic paroxysms reduced to some extent. Partial response to therapy in GER should prompt search for an underlying secondary etiology.
doi:10.4103/0972-2327.144034
PMCID: PMC4251021  PMID: 25506169
Congenital myopathy; gastroesophageal reflux; paroxysmal dyskinesia; Sandifer syndrome
17.  Crohns disease with central nervous system vasculitis causing subarachnoid hemorrhage due to aneurysm and cerebral ischemic stroke 
Cerebral vasculitis secondary to Crohn's disease (CD) seems to be a very rare phenomenon. We report a 39-year-old male who presented with headache, vomiting, and left-sided weakness in the known case of CD. Cross-sectional imaging (computed tomography and magnetic resonance imaging,) showed right gangliocapsular acute infarct with supraclinoid cistern subarachnoid hemorrhage (SAH). Cerebral digital substraction angiography (DSA) showed dilatation and narrowing of right distal internal carotid artery (ICA). Left ICA was chronically occluded. His inflammatory markers were significantly raised. Imaging features are suggestive of cerebral vasculitis. Arterial and venous infarcts due to thrombosis are known in CD. Our case presented with acute subarachnoid hemorrhage in supraclinoid cistern due to rupture of tiny aneurysm of perforator arteries causing SAH and infarction in right basal ganglia. Patient was treated conservatively with immunosuppression along with medical management of SAH.
doi:10.4103/0972-2327.144035
PMCID: PMC4251022  PMID: 25506170
Aneurysm; cerebral ischemia; Crohn's disease; extra-intestinal manifestations; subarachnoid hemorrhage; vasculitis
18.  Candida tropicalis brain abscess in a neonate: An emerging nosocomial menace 
Fungi are a relatively uncommon cause of brain abscess in neonates and early infancy. They are usually associated with predisposing factors like prematurity, low birth weight, use of broad-spectrum antibiotics, and prolonged stay in the intensive care unit. Candida tropicalis (C. tropicalis) is rapidly emerging as a nosocomial threat in the neonatal intensive care settings. This case report describes a neonate with C. tropicalis brain abscess who was diagnosed early and managed aggressively with a favorable outcome. Inadvertent use of intravenous antibiotics can have serious complications such as invasive fungal infection. Correct microbiological diagnosis is the key to successful treatment of deep-seated pyogenic infection. Fungal etiology should always be studied in relevant clinical settings.
doi:10.4103/0972-2327.144036
PMCID: PMC4251023  PMID: 25506171
Brain abscess; Candida tropicalis; fungal; neonate
19.  Endovascular treatment of vein of Galen dural arteriovenous fistula presenting as dementia 
Dural arteriovenous fistula (DAVF) is an important cause of neurological dysfunction that is often misdiagnosed, especially in elderly population. Galenic DAVFs are a subtype of the rare falcotentorial DAVFs with a high risk of hemorrhage and aggressive clinical course. In most cases, DAVFs present with pulsatile tinnitus, headache, or orbital symptoms such as chemosis and proptosis. We report a patient with DAVF of Vein of Galen presented with progressive dementia, treated by Onyx embolisation and had good clinical outcome.
doi:10.4103/0972-2327.144037
PMCID: PMC4251024  PMID: 25506172
Dementia; endovascular treatment; vein of Galen dural AV fistula
20.  Intravenous thrombolysis in a patient with left atrial myxoma with acute ischemic stroke 
Intravenous thrombolysis (IVT) is an accepted therapy in patients with acute ischemic stroke presenting within 3-4.5 hours of symptom onset. Selection of the patient for thrombolysis depends on the careful assessment for the risk of post thrombolysis symptomatic haemorrhage (6.2-8.9%) which may be fatal. Atrial myxomas which are the commonest tumors of the heart are associated with stroke due to tumor/clot embolism. There are very few case reports of IVT and its outcome in patients with atrial myxoma with stroke. Some have reported successful thrombolysis, while others have reported intracerebral bleeding. In this report we describe our experience of IVT in atrial myxoma patient with ischemic stroke and review the relevant literature.
doi:10.4103/0972-2327.144038
PMCID: PMC4251025  PMID: 25506173
Cerebral hemorrhage; intravenous thrombolysis; left atrial myxoma; recombinant tissue plasminogen activator
21.  Molecular analysis of PRRT2 gene in a case of paroxysmal kinesigenic dyskinesia patient 
Paroxysmal kinesigenic dyskinesia (PKD) is an abnormal involuntary movement that is episodic or intermittent, with sudden onset, and the attacks are induced by sudden movement. Mutations in proline-rich transmembrane protein 2 (PRRT2) gene have been implicated in the cause of this disorder. This study presents a case of PKD on the basis of clinical findings supported and evidences obtained through a mutational analysis. Sequencing of all the exons of PRRT2 gene revealed a frameshift mutation (p.R217Pfs*8) in exon 2 and a novel transition mutation (c.244C > T) in 5′-untranslated region (UTR). Though mutations in PRRT2 gene are well-established in PKD, this study for the first time presents a novel transition mutation in the exon 2 region.
doi:10.4103/0972-2327.144039
PMCID: PMC4251026  PMID: 25506174
Mutation analysis; paroxysmal kinesigenic dyskinesia; proline-rich transmembrane protein
22.  Factors predicting poor outcome in patients with fulminant Guillaine-Barré syndrome 
This paper describes three patients with acute fulminant Guillain-Barrι Syndrome (GBS) with electrophysiologically inexcitable peripheral nerves not responding to two courses of intravenous immunoglobulin. Their clinical profile is compared with two other GBS patients having similar severity of disease but with demyelinative features, managed similarly during the same period. Patients who failed to respond were elderly with a mean age of 60 years, had prodromal diarrhea, rapid progression of muscle weakness requiring mechanical ventilation within 24 hours, dense weakness of all four limbs with cardiovascular autonomic symptoms and inexcitable peripheral nerves. The remaining two who recovered well were relatively younger with a mean age of 50 years, had no prodromal diarrhea, required ventilatory support by fourth day of illness, no cardiovascular autonomic symptoms and demyelinative neuropathy.
doi:10.4103/0972-2327.144040
PMCID: PMC4251027  PMID: 25506175
Guillain-Barré Syndrome (GBS); inexcitable nerves; intravenous immunoglobulin (IVIG)
24.  Linear nevus sebaceous syndrome 
doi:10.4103/0972-2327.144042
PMCID: PMC4251029  PMID: 25506177
25.  Hot water epilepsy: Phenotype and single photon emission computed tomography observations 
We studied the anatomical correlates of reflex hot water epilepsy (HWE) using multimodality investigations viz. magnetic resonance imaging (MRI), electroencephalography (EEG), and single photon emission computed tomography (SPECT). Five men (mean age: 27.0 ΁ 5.8 years) with HWE were subjected to MRI of brain, video-EEG studies, and SPECT scan. These were correlated with phenotypic presentations. Seizures could be precipitated in three patients with pouring of hot water over the head and semiology of seizures was suggestive of temporal lobe epilepsy. Ictal SPECT showed hyperperfusion in: left medial temporal — one, left lateral temporal — one, and right parietal — one. Interictal SPECT was normal in all five patients and did not help in localization. MRI and interictal EEG was normal in all the patients. The clinical and SPECT studies suggested temporal lobe as the seizure onset zone in some of the patients with HWE.
doi:10.4103/0972-2327.144043
PMCID: PMC4251030  PMID: 25506178
Hot water epilepsy; magnetic resonance imaging; single photon emission computed tomography; temporal lobe epilepsy

Results 1-25 (813)