Annals of Indian Academy of Neurology
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   2014| October-December  | Volume 17 | Issue 4  
    Online since November 5, 2014

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Neuropsychological deficits in temporal lobe epilepsy: A comprehensive review
Fengqing Zhao, Hai Kang, LIbo You, Priyanka Rastogi, D Venkatesh, Mina Chandra
October-December 2014, 17(4):374-382
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.
  5,685 251 -
Magnitude of peripheral neuropathy in cirrhosis of liver patients from central rural India
Jyoti Jain, Ramji Singh, Shashank Banait, Nitin Verma, Satish Waghmare
October-December 2014, 17(4):409-415
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.
  4,157 114 -
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
Ramshekhar Menon, VS Lekha, Sunitha Justus, P Sankara Sarma, PS Mathuranath
October-December 2014, 17(4):420-425
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.
  4,006 112 1
Next-generation sequencing and genetic diagnosis of Charcot-Marie-Tooth disease
Ashok Verma
October-December 2014, 17(4):383-386
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.
  3,494 112 2
Crohns disease with central nervous system vasculitis causing subarachnoid hemorrhage due to aneurysm and cerebral ischemic stroke
Shaileshkumar S Garge, Pooja D Vyas, Pranav D Modi, Sharad Ghatge
October-December 2014, 17(4):444-447
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.
  3,513 61 2
Posterior quadrant disconnection for refractory epilepsy: A case series
Javeria Nooraine, Shiva kumar R, Rajesh B Iyer, Ravi Mohan Rao, Seetharam Raghavendra
October-December 2014, 17(4):392-397
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.
  3,306 116 -
Bobbling head in a young subject
Kalyan B Bhattacharyya, Sumit Deb, SN Ghosh, S Mondal
October-December 2014, 17(4):371-373
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.
  2,899 147 -
Factors predicting poor outcome in patients with fulminant Guillaine-Barré syndrome
Nandagopal Nithyashree, Madhuram Dhanaraj, Senthil Kumar, MB Saraswathi
October-December 2014, 17(4):463-465
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.
  2,916 103 -
Sleep disturbances in drug naïve Parkinson's disease (PD) patients and effect of levodopa on sleep
Teresa Ferreira, Sudesh Prabhakar, Parampreet S Kharbanda
October-December 2014, 17(4):416-419
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 naοve 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.
  2,738 107 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
PR Srijithesh, Shakir Husain
October-December 2014, 17(4):365-370
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.
  2,673 115 -
Clinical profile and genetic correlation of patients with spinocerebellar ataxia: A study from a tertiary care centre in Eastern India
Debabrata Pulai, Deb Shankar Guin, Kalyan B Bhattacharyya, Goutam Ganguly, Anindita Joardar, Sarnava Roy, Atanu Biswas, Alak Pandit, Arijit Roy, Asit Kumar Senapati
October-December 2014, 17(4):387-391
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.
  2,609 163 2
Intravenous thrombolysis in a patient with left atrial myxoma with acute ischemic stroke
Girish Baburao Kulkarni, Ravi Yadav, Veerendrakumar Mustare, Sailesh Modi
October-December 2014, 17(4):455-458
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.
  2,677 76 1
Low plasma antioxidant status in patients with epilepsy and the role of antiepileptic drugs on oxidative stress
Bindu Menon, Krishnan Ramalingam, Rajendiran Vinoth Kumar
October-December 2014, 17(4):398-404
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.
  2,635 100 1
Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME): Probable first family from India
Chandra Mohan Sharma, Kunal Nath, Bansi Lal Kumawat, Dinesh Khandelwal
October-December 2014, 17(4):433-436
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.
  2,645 75 1
Sleep disorders in children with cerebral palsy and its correlation with sleep disturbance in primary caregivers and other associated factors
Dheeraj Adiga, Anupam Gupta, Meeka Khanna, Arun B Taly, Kandavelu Thennarasu
October-December 2014, 17(4):473-476
Aims: To observe prevalence of sleep disturbance (SD) in cerebral palsy (CP) children in a specific age-group and its correlation with SD in primary caregivers and other associated factors. Materials and Methods: This was a prospective cross-sectional study. SD assessed using Sleep Disturbance Scale for Children (SDSC) in CP children and Pittsburgh Sleep Quality Index (PSQI) in caregivers. Fifty cases of clinically diagnosed CP [27 females, mean age: 107.9 ΁ 29.5 months (range: 78-180 months)] fulfilling criteria were included. Results: Eighteen (36%) children had pathological sleep total score (TS) and Disorders of Initiating and Maintaining Sleep (DIMS) was the commonest SD (n = 25, 50%). All primary caregivers were mothers. Twenty-five (50%) mothers had SD on PSQI scale. DIMS, Disorders of Excessive Somnolence (DES), and TS had significant correlation with PSQI (P < 0.05). Disorders of Arousal (DA) and TS had significant correlation with seizures (P < 0.05) in CP children. Bed-sharing had significant correlation with SD in caregivers (P < 0.001) but not with CP children. No significant correlation was observed between SD in CP and gross motor function (Gross Motor Function Classification System), use of orthoses, and dental caries. Interpretation: Children with CP have underreported significant SD, which negatively impacts caregiver's sleep also. Seizure disorders and medications contribute significantly to SD.
  2,601 88 1
Endovascular treatment of vein of Galen dural arteriovenous fistula presenting as dementia
Vikram Huded, Syed Zafer Moeed, Romnesh Desouza, Ravikesh Tripathi, Rithesh Nair
October-December 2014, 17(4):451-454
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.
  2,490 80 1
What patients do to counteract the symptoms of Willis-Ekbom disease (RLS/WED): Effect of gender and severity of illness
Ravi Gupta, Deepak Goel, Sohaib Ahmed, Minakshi Dhar, Vivekananda Lahan
October-December 2014, 17(4):405-408
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.
  2,466 64 1
Chronic meningitis in systemic lupus erythematosus: An unusual etiology
Anu Gupta, Vishal Jogi, Manoj Kumar Goyal, Manish Modi, Dheeraj Khurana
October-December 2014, 17(4):426-428
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.
  2,344 94 -
Linear nevus sebaceous syndrome
Leema Pauline, Balakrishnan Kannan, Viveka Saravannan, Venkatesan Prasanna Eswaradass
October-December 2014, 17(4):468-469
  2,361 66 -
A case of congenital myopathy masquerading as paroxysmal dyskinesia
Harsh Patel, Biswaroop Chakrabarty, Sheffali Gulati, Mehar C Sharma, Lokesh Saini
October-December 2014, 17(4):441-443
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.
  2,199 69 -
Molecular analysis of PRRT2 gene in a case of paroxysmal kinesigenic dyskinesia patient
S Prabhakara, Kolandaswamy Anbazhagan
October-December 2014, 17(4):459-462
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.
  2,177 65 -
Candida tropicalis brain abscess in a neonate: An emerging nosocomial menace
Sangeetha Yoganathan, Biswaroop Chakrabarty, Sheffali Gulati, Ajay Kumar, Atin Kumar, Manmohan Singh, Immaculata Xess
October-December 2014, 17(4):448-450
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.
  2,178 62 -
Pure psychiatric presentation in a patient with Fahr's disease
Rosaria Renna, Francesca Plantone, Domenico Plantone
October-December 2014, 17(4):466-467
  2,145 72 -
Hot water epilepsy: Phenotype and single photon emission computed tomography observations
Mehul Patel, Parthasarathy Satishchandra, Hanumanthapura Aravinda, Rose D Bharath, Sanjib Sinha
October-December 2014, 17(4):470-472
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.
  2,036 79 1
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
Dodul Mondal, PK Julka, Manisha Jana, Ritika Walia, Tamojit Chaudhuri
October-December 2014, 17(4):429-432
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.
  2,048 62 -
Efficacy and safety of methylcobalamin, alpha lipoic acid and pregabalin combination versus pregabalin monotherapy in improving pain and nerve conduction velocity in type 2 diabetes associated impaired peripheral neuropathic condition. [MAINTAIN]: Results of a pilot study
D Vasudevan, Manoj M Naik, Qayum I Mukaddam
October-December 2014, 17(4):480-481
  1,792 72 -
Parinaud's syndrome: A rare presentation of lung carcinoma with solitary pineal metastasis
Jasmit Singh, Vernon Velho, Hrushikesh Kharosekar
October-December 2014, 17(4):478-480
  1,771 56 -
Isolated vision loss and disappearing lesions as the manifestation of subacute sclerosing panencephalitis
Rajesh Verma, Rahul Gupta, Vivek Junewar, Ajay Panwar
October-December 2014, 17(4):477-478
  1,739 57 -
Importance of acylcarnitine profile analysis for disorders of lipid metabolism in adolescent patients with recurrent rhabdomyolysis: Report of two cases
Yasemin TopÁu, Erhan Bayram, Pakize Karaoglu, UluÁ Yis, Semra Hiz Kurul
October-December 2014, 17(4):437-440
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.
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Conducting randomized controlled trials in clinical settings of a pilot study
Sunil Kumar Raina
October-December 2014, 17(4):481-482
  1,446 55 -
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