Annals of Indian Academy of Neurology
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   2016| July-September  | Volume 19 | Issue 3  
    Online since July 25, 2016

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The spectrum of leukodystrophies in children: Experience at a tertiary care centre from North India
Sheffali Gulati, Puneet Jain, Biswaroop Chakrabarty, Atin Kumar, Neerja Gupta, Madhulika Kabra
July-September 2016, 19(3):332-338
DOI:10.4103/0972-2327.179975  PMID:27570384
Objective: The objective of this study is to retrospectively collect and then describe the clinico-radiographical profile of confirmed cases of leukodystrophy who presented over a 5-year period to a tertiary care teaching hospital in North India. Materials and Methods: The case records of 80 confirmed cases of leukodystrophy were reviewed and the cases have been described in terms of their clinical presentation and neuroimaging findings. Results: The cases have been grouped into five categories: Hypomyelinating, demyelinating, disorders with vacuolization, cystic, and miscellaneous. The commonest leukodystrophies are megalencephalic leukoencephalopathy with subcortical cysts (MLC), Pelizaeus-Merzbacher disease (PMD), and metachromatic leukodystrophy (MLD). A notable proportion of hypomyelinating disorders were uncharacterized. Conclusions: Leukodystrophies at this point of time have no definite cure. They have a progressively downhill clinical course. Early diagnosis is imperative for appropriate genetic counseling. A simplified approach to diagnose common leukodystrophies has also been provided. It is important to develop a registry, which can provide valuable epidemiological data to prioritize research in this field, which has many unanswered questions.
  8,180 267 -
Unusual case of recurrent SMART (stroke-like migraine attacks after radiation therapy) syndrome
Ramnath Santosh Ramanathan, Gayathri Sreedher, Konark Malhotra, Zain Guduru, Deeksha Agarwal, Mary Flaherty, Timothy Leichliter, Sandeep Rana
July-September 2016, 19(3):399-401
DOI:10.4103/0972-2327.168634  PMID:27570398
Stroke-like migraine attacks after radiation therapy (SMART) syndrome is a rare delayed complication of cerebral radiation therapy. A 53-year-old female initially presented with headache, confusion and left homonymous hemianopia. Her medical history was notable for cerebellar hemangioblastoma, which was treated with radiation in 1987. Her initial brain MRI (magnetic resonance imaging) revealed cortical enhancement in the right temporo-parieto-occipital region. She improved spontaneously in 2 weeks and follow-up scan at 4 weeks revealed no residual enhancement or encephalomalacia. She presented 6 weeks later with aphasia. Her MRI brain revealed similar contrast-enhancing cortical lesion but on the left side. Repeat CSF studies was again negative other than elevated protein. She was treated conservatively and recovered completely within a week. Before diagnosing SMART syndrome, it is important to rule out tumor recurrence, encephalitis, posterior reversible encephalopathy syndrome (PRES) and stroke. Typically the condition is self-limiting, and gradually resolves.
  5,114 75 -
Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature
Lokesh Lingappa, Nikit Shah, Ananth Sagar Motepalli, Farhan Shaik
July-September 2016, 19(3):395-398
DOI:10.4103/0972-2327.168635  PMID:27570397
Spinal muscular atrophy with respiratory distress syndrome (SMARD1) is a rare cause of early infantile respiratory failure and death. No cases have been currently described from India. Two low-birth-weight infants presented prior to 6 months of age with recurrent apnea and respiratory distress. Both required prolonged ventilation, and had distal arthrogryposis and diaphragmatic eventration. Nerve conduction study revealed motor sensory axonopathy. Genetic testing confirmed mutations in immunoglobulin mu binding protein (IGHMBP2). These two cases establish presence of SMARD1 in our population. Both infants died on discontinuation of ventilation. Antenatal diagnoses done in one pregnancy. Though rare, high index of suspicion is essential in view of poor outcome and aid antenatal counseling.
  3,904 80 -
Looking at "thunderclap headache" differently? Circa 2016
K Ravishankar
July-September 2016, 19(3):295-301
DOI:10.4103/0972-2327.186783  PMID:27570377
The term "thunderclap headache" (TCH) was first coined in 1986 by Day and Raskin to describe headache that was the presenting feature of an underlying unruptured cerebral aneurysm. The term is now well established to describe the abrupt onset headache seen with many other conditions and is also now included in The International Classification of Headache Disorders 3 rd edition beta version rubric 4.4. An essential to label an acute headache as "TCH" and differentiate it from other "sudden onset, severe headaches" is the arbitrary time frame of 1 min from onset to peak intensity for "TCH." What happens in practice, however, is that even those "sudden onset, severe headaches" that do not strictly fulfill the definition criteria are also labeled as "TCH" and investigated with the same speed and in the same sequence and managed based on the underlying cause. This article begins by questioning the validity and usefulness of this "one minute" arbitrary time frame to define "TCH," particularly since this time frame is very difficult to assess in practice and is usually done on a presumptive subjective basis. The article concludes with suggestions for modification of the current investigation protocol for this emergency headache scenario. This proposal for "a change in practice methodology" is essentially based on (1) the fact that in the last two decades, we now have evidence for many more entities other than just subarachnoid hemorrhage that can present as "TCH" or "sudden onset, severe headache" and (2) the evidence from literature which shows that advances in imaging technology using higher magnet strength, better contrast, and newer acquisition sequences will result in a better diagnostic yield. It is therefore time now, in our opinion, to discard current theoretical time frames, use self-explanatory terminologies with practical implications, and move from "lumbar puncture (LP) first" to "LP last!"
  3,796 109 -
Diaphragmatic flutter masquerading as palpitations
Boby Varkey Maramattom, Pravin Sreekumar, R Anil Kumar
July-September 2016, 19(3):402-403
DOI:10.4103/0972-2327.186843  PMID:27570399
  3,851 51 -
"Venous congestion" as a cause of subcortical white matter T2 hypointensity on magnetic resonance images
Jayaprakash Harsha Kamble, Krishnan Parameswaran
July-September 2016, 19(3):411-413
DOI:10.4103/0972-2327.179978  PMID:27570403
Subcortical T2 hypointensity is an uncommon finding seen in very limited conditions such as multiple sclerosis, Sturge-Weber syndrome, and meningitis. Some of the conditions such as moyamoya disease, severe ischemic-anoxic insults, early cortical ischemia, and infarcts are of "arterial origin." We describe two conditions in which "venous congestion" plays a major role in T2 hypointensity - cerebral venous sinus thrombosis (CVST) and dural arteriovenous fistula (dAVF). The third case is a case of meningitis, showing T2 hypointensity as well, and can be explained by the "venous congestion" hypothesis. The same hypothesis can explain few of the other conditions causing subcortical T2 hypointensity.
  3,686 59 -
Polycystic ovary syndrome in patients on antiepileptic drugs
Lakshminarayanapuram G Viswanathan, Parthasarathy Satishchandra, Bipin C Bhimani, Janardhan YC Reddy, Batchu S Rama Murthy, Doddaballapura K Subbakrishna, Sanjib Sinha
July-September 2016, 19(3):339-343
DOI:10.4103/0972-2327.179973  PMID:27570385
Objective: This study aims to discuss the prevalence of polycystic ovary (PCO) and Polycystic ovary syndrome (PCOS) in women with epilepsy (WWE) on valproate (VPA), carbamazepine (CBZ), or phenobarbitone (PB), drug naive WWE and women with bipolar affective disorder (BPAD) on VPA. Materials and Methods: This prospective study included 190 women aged 18-45 years, who had epilepsy or BPAD (on VPA), and consented for study. Patients were grouped as Group 1 (n = 40): WWE on VPA, Group 2 (n = 50): WWE on CBZ, Group 3 (n = 50): WWE on PB, Group 4 (n = 30): drug naοve WWE, and Group 5 (n = 20): women with BPAD on VPA. All women were interviewed for medical, menstrual, drug and treatment history, nature of epilepsy, and seizure control. Chi-square test and Fisher's exact test were done to compare results between the groups. Results: Fifty-two women (52/190; 27.4%) had menstrual disturbances, in which oligomenorrhea was the most common (55.8%). There was a significant difference in the occurrence of PCOS in patients on VPA versus normal population (P = 0.05) and patients on other antiepileptic drugs (AEDs) (P = 0.02). There was, however, no significant difference in the occurrence of PCO between patients on VPA and the untreated epileptic women. VPA group (Epilepsy + BPAD) had a significantly higher occurrence of obesity than other treatment groups (P = 0.043, OR = 2.11). Conclusions: The study observed significantly higher occurrence of PCO in patients on VPA compared to other AEDs and the normal population. The importance of proper clinical evaluation before initiating VPA is highlighted.
  3,568 89 -
Epileptiform activity in the electroencephalogram of 6-year-old children of women with epilepsy
Unnikrishnan Krishnan Syam, Sanjeev V Thomas
July-September 2016, 19(3):318-322
DOI:10.4103/0972-2327.179974  PMID:27570381
Purpose: To study the epileptiform discharges (EDs) in the electroencephalogram (EEG) of 6-8-year-old children of women with epilepsy (WWE). Materials and Methods: All children born to women with epilepsy and prospectively followed up through the Kerala Registry of Epilepsy and Pregnancy (KREP), aged 6-8 years, were invited (n = 532). Out of the 254 children who responded, clinical evaluations and a 30-min digital 18 channel EEG were completed in 185 children. Results: Of the 185 children examined, 37 (20%) children (19 males, 18 females) had ED in their EEG. The EDs were generalized in 7 children, and focal in 30 children. The EDs were present in the sleep record only of 16 (43%) children and in the awake record only of 6 (16%) children. Out of the 94 children for whom seizure history was available, 7 children (7.4%) had seizures (neonatal seizures: 4, febrile seizure: 1, and single nonfebrile seizure: 2) and none had history of epilepsy or recurrent nonfebrile seizures. The odds ratio (OR) for occurrence of ED in the EEG was significantly higher for children of WWE [OR = 3.5, 95% confidence interval (CI) 2.3-6.0] when compared to the published data for age-matched children of mothers without epilepsy. There was no association between the occurrence of ED and the children's maternal characteristics [epilepsy syndrome, seizures during pregnancy, maternal intelligence quotient (IQ)] or the children's characteristics [antenatal exposure to specific antiepileptic drugs (AEDs), birth weight, malformations, IQ]. Conclusion: Children of WWE have a higher risk of epileptiform activity in their EEG when compared to healthy children in the community though none had recurrent seizures.
  3,587 58 -
Evaluating the efficacy of memantine on improving cognitive functions in epileptic patients receiving anti-epileptic drugs: A double-blind placebo-controlled clinical trial (Phase IIIb pilot study)
Priya Marimuthu, Sathyanarayanan Varadarajan, Muthuraj Krishnan, Sundar Shanmugam, Gireesh Kunjuraman, Jamuna Rani Ravinder, Balasubramanian Arumugam, Divya Alex, Porchelvan Swaminathan
July-September 2016, 19(3):344-350
DOI:10.4103/0972-2327.179971  PMID:27570386
Objectives: People with epilepsy have greater cognitive and behavioral dysfunction than the general population. There is no specific treatment available for cognitive impairment of these patients. We aimed to evaluate the effects of memantine, an N-methyl-D-aspartate-type glutamate receptor noncompetitive antagonist, on improving cognition and memory functions in epileptic patients with cognitive and memory impairment, who received anti-epileptic drugs (AEDs). Methods: We did a randomized, double-blind, placebo-controlled parallel group trial, in SRM Medical College Hospital and Research Centre, Kattankulathur, Kancheepuram, Tamil Nadu, India between April 2013 and September 2013. Fifty-nine epileptic patients taking AEDs with subjective memory complaints were recruited and randomized to either Group 1 to receive 16 weeks of once-daily memantine, (5 mg for first 8 weeks, followed by memantine 10 mg for next 8 weeks) or Group 2 to receive once daily placebo. This trial is registered with Clinical Trial Registry of India CTRI/2013/04/003573. Results: Of 59 randomized patients, 55 patients completed the study (26 memantine and 29 placebo). Memantine group showed statistically significant improvement in total mini mental state examination score from baseline (P = 0.765) to 16 th week (P < 0.001) in comparison with the placebo. The Weshler's Memory Scale total score in memantine group improved significantly after 8 weeks (P = 0.002) compared with baseline (P = 0.873) and highly significant at the end of 16 th week (P < 0.001). The self-rated quality of life and memory in memantine group also significantly improved at the study end. Conclusion: We conclude that once-daily memantine (10 mg) treatment significantly improved cognition, memory and quality of life in epileptic patients with mild to moderate cognitive impairment and was found to have a favorable safety profile.
  3,406 108 -
Bloodstream infections in NNICU: Blight on ICU stay
Man Mohan Mehndiratta, Rajeev Nayak, Sana Ali, Ajay Sharma
July-September 2016, 19(3):327-331
DOI:10.4103/0972-2327.179983  PMID:27570383
Background: Bloodstream infections (BSIs) are among the serious hospital-acquired infections. Data regarding BSIs in intensive care units (ICUs) are available but there is limited information regarding these infections in neurology and neurosurgery intensive care units (NNICUs). Objectives: This study was conducted to find out the occurrence of BSI in NNICU patients of a tertiary care institute in India, along with the microbiological profile and risk factors associated with it. Materials and Methods: One hundred patients admitted in the NNICU of a tertiary care hospital for more than 24 h were included in the study. After detailed history, blood samples were collected from catheter hub and peripheral vein of all patients for culture, followed by identification and antibiotic sensitivity testing of the isolates. Results: Out of 100 patients, laboratory-confirmed bloodstream infection (LCBI) was detected in 16 patients. Five patients had secondary BSI, while 11 had central venous catheter (CVC)-related primary BSI. Gram-positive organisms constituted 64% of the isolates, especially coagulase-negative staphylococci and Staphylococcus aureus. Increased duration of CVC was a significant risk factor for catheter-related BSI (CR-BSI). Conclusion: BSIs pose a significant burden for NNICU patients, and increased duration of catheter insertion is a significant risk factor for CR-BSI.
  3,316 94 -
Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity
Boby Varkey Maramattom, Rajat Raja, Anuroop Balagopal
July-September 2016, 19(3):392-394
DOI:10.4103/0972-2327.167701  PMID:27570396
Urea cycle disorders (UCD) are very rare metabolic disorders that present with encephalopathy and hyperammonemia. Of the UCDs, Arginase deficiency (ARD) is the rarest and presents in childhood with a progressive spastic diplegia or seizures. Acute presentation in adulthood is extremely unusual. [1] We present the first case of adult onset ARD presenting with encephalopathy and diffusion weighted MRI findings that resembled a moustache in the midbrain.
  3,314 76 -
Factors influencing nonadministration of thrombolytic therapy in early arrival strokes in a university hospital in Hyderabad, India
Lalitha Pidaparthi, Anitha Kotha, Venkat Reddy Aleti, Abhijeet Kumar Kohat, Mridula R Kandadai, Suryaprabha Turaga, Jabeen A Shaik, Suvarna Alladi, Meena A Kanikannan, Borgohain Rupam, Subhash Kaul
July-September 2016, 19(3):351-355
DOI:10.4103/0972-2327.179976  PMID:27570387
Background: It is a well-known fact that very few patients of stroke arrive at the hospital within the window period of thrombolysis. Even among those who do, not all receive thrombolytic therapy. Objective: The objectives of this study were to determine the proportion of early arrival ischemic strokes (within 6 h of stroke onset) in our hospital and to evaluate the causes of nonadministration of intravenous and/or intraarterial thrombolysis in them. Materials and Methods: Data of all early arrival acute stroke patients between January 2010 and January 2015 were included. Factors determining nonadministration of intravenous and/or intraarterial thrombolysis in early arrival strokes were analyzed. Results: Out of 2,593 stroke patients, only 145 (5.6%) patients presented within 6 h of stroke onset and among them 118 (81.4%) patients had ischemic stroke and 27 (18.6%) patients had hemorrhagic stroke. A total of 89/118 (75.4%) patients were thrombolyzed. The reasons for nonadministration of thrombolysis in the remaining 29 patients were analyzed, which included unavoidable factors in 8/29 patients [massive infarct (N = 4), hemorrhagic infarct (N = 1), gastrointestinal bleed (N = 1), oral anticoagulant usage with prolonged international normalized ratio (INR) (N = 1), and recent cataract surgery (N = 1)]. Avoidable factors were found for 21/29 patients, include nonaffordability (N = 7), fear of bleed (N = 4), rapidly improving symptoms (N = 4), mild stroke (N = 2), delayed neurologist referral within the hospital (N = 2), and logistic difficulty in organizing endovascular treatment (N = 2). Conclusion: One-fourth of early ischemic stroke patients in our study were not thrombolyzed even though they arrived within the window period. The majority of the reasons for nonadministration of thrombolysis were potentially preventable, such as nonaffordability, intrahospital delay, and nonavailability of newer endovascular interventions.
  3,250 104 -
Vasculitic neuropathy in elderly: A study from a tertiary care university hospital in South India
Anish Lawrence, Madhu Nagappa, Anita Mahadevan, Arun B Taly
July-September 2016, 19(3):323-326
DOI:10.4103/0972-2327.179982  PMID:27570382
Objective: To describe clinical, electrophysiological, and histopathological profile of vasculitic neuropathy in elderly subjects aged 65 years or more. Design: Retrospective chart review. Setting: Departments of Neurology and Neuropathology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India. Patients and Methods: Elderly subjects, diagnosed vasculitic neuropathy by nerve biopsy over one decade, were studied. Results: The cohort consisted of 46 subjects. Symptom duration was 21.54 ± 33.53 months. Onset was chronic in majority (82.6%). Key features included paresthesias (89%), weakness (80%), sensory loss (70%), wasting (63%), and relapsing-remitting course (6.5%). Most Common clinico-electrophysiological patterns were distal symmetrical sensorimotor polyneuropathy - 19, mononeuritis multiplex - 9, and asymmetric sensorimotor neuropathy - 10. Diagnosis of vasculitis was not suspected before biopsy in 31 (67.3%). Nerve biopsy revealed definite vasculitis - 12, probable - 10, and possible - 24. Treatment included immunomodulatory agents (41), symptomatic medications only (9), and antiretroviral therapy (1). Twenty-four patients were followed up for mean period of 6.5 months. Outcome at last follow-up was improved (13), unchanged (8), and worsened (3). Conclusion: Vasculitis is an important, treatable cause of neuropathy in elderly. Nerve biopsy should be used judiciously for early diagnosis and appropriate treatment.
  3,162 125 -
Report: Stem cell applications in neurological practice, an expert group consensus appraisal
M Gourie Devi, Alka Sharma, Sujata Mohanty, Neeraj Jain, Kusum Verma, M Vasantha Padma, Pramod Pal, HS Chabbra, Satish Khadilkar, Sudesh Prabhakar, Gagandeep Singh
July-September 2016, 19(3):367-373
DOI:10.4103/0972-2327.186825  PMID:27570390
Introduction: Neurologists in their clinical practice are faced with inquiries about the suitability of stem cell approaches by patients with a variety of acute and chronic (namely neurodegenerative) disorders. The challenge is to provide these patients with accurate information about the scope of stem cell use as well as at the same time, empowering patients with the capacity to make an autonomous decision regarding the use of stem cells. Methods: The Indian Academy of Neurology commissioned an Expert Group Meeting to formulate an advisory to practicing neurologists to counsel patients seeking information and advice about stem cell approaches. Results and Conclusions: In the course of such counselling, it should be emphasized that the information provided by many lay websites might be unsubstantiated. Besides, standard recommendations for the stem cell research, in particular, the application of several layers of oversight should be strictly adhered in order to ensure safety and ethical use of stem cells in neurological disorders.
  3,121 162 -
Hemi-meningitis with hemophagocytic lymphohistiocytosis
Ozan Kocak, Coskun Yarar, Sevgi Yimenicioğlu, Arzu Ekici, Özcan Bör
July-September 2016, 19(3):388-391
DOI:10.4103/0972-2327.165458  PMID:27570395
Hemophagocytic lymphohistiocytosis (HLH) is a rare lymphoproliferative disorder. HLH may occur as a complication of Epstein-Barr virus (EBV), particularly in patients with immunodeficiencies. Herein, we describe a 16-year-old girl with neurological complications associated EBV-induced HLH. Her cerebral magnetic resonance imaging (MRI) showed contrast-enhanced axial T1-weighted images with enhancement of meningeal surface in the right hemisphere that was consistent with right hemi-meningitis. Hydrocephalus, dilated subdural spaces, delayed myelination, edema, diffuse parenchymal atrophy, calcifications, diffuse/patchy white matter abnormalities have all been previously described with HLH. To the best of our knowledge, this is the first case of hemi-meningitis associated with HLH. We suggest that clinicians should consider HLH with vascular disorders when they determine unilateral meningitis on a brain MRI.
  3,162 74 -
Idiopathic CD4 lymphocytopenia with sensorimotor polyneuropathy
Vinod Puri, Ashish Kumar Duggal, Neera Chaudhry
July-September 2016, 19(3):381-384
DOI:10.4103/0972-2327.165470  PMID:27570393
A, 21-years-old, male, presented with acute onset, gradually progressive, predominantly distal, symmetrical weakness of both upper and lower limbs with arreflexia. He had impaired sensations in glove and stocking distribution with distal gradient. He was found to have absolute CD4 + cell count of 188 cells/μL, absolute CD8 cell count, 532 cells/μL and CD4: CD8 ratio of 0.35. Electrophysiology revealed reduced to absent CMAP amplitude as well as SNAPs in various nerves of upper and lower limbs, along with normal conduction velocity and normal F wave latencies. Pattern evoked visual potentials were prolonged, on both sides, P100 being 130 ms, on right and 108 ms, on left side. In the follow up of 2 years, he showed spontaneous but gradual clinical improvement but his electrophysiological parameters as well as CD 4+ cells count did not show any significant improvement.
  3,145 71 -
Sural sensory nerve action potential: A study in healthy Indian subjects
Aarthika Sreenivasan, Khushnuma A Mansukhani, Alika Sharma, Lajita Balakrishnan
July-September 2016, 19(3):312-317
DOI:10.4103/0972-2327.186786  PMID:27570380
Background: The sural sensory nerve action potential (SNAP) is an important electrodiagnostic study for suspected peripheral neuropathies. Incorrect technique and unavailability of reference data can lead to erroneous conclusions. Objectives: To establish reference data for sural SNAP in age-stratified healthy subjects at three sites of stimulation. Materials and Methods: A prospective study was conducted in 146 nerves from healthy subjects aged between 18 years and 90 years, stratified into six age groups (a = 18-30 years, b = 31-40 years, c = 41-50 years, d = 51-60 years, e = 61-70 years, and f >71 years). Sural SNAP was recorded antidromically, stimulating at three sites at distances of 14 cm, 12 cm, and 10 cm from the recording electrode. Mean - 2 standard deviation (SD) of the transformed data was used to generate reference values for amplitudes. Analysis of variance (ANOVA) test was used for inter-group and between three sites comparisons of amplitudes. Results: The lower limits of amplitude at 14 cm were 12.4 μV, 10.4 μV, 6.5 μV, 5.3 μV, 2.9 μV, and 1.9 μV; at 12 cm were 13.5 μV, 13.6 μV, 8.5 μV, 7.8 μV, 3.5 μV, and 2.8 μV; and at 10 cm were 16.3 μV, 16.3 μV, 11.1 μV, 10.0 μV, 4.8 μV, and 3.7 μV for groups a, b, c, d, e, and f, respectively. A statistically significant difference in amplitudes was noted from the three different sites of stimulation (P < 0.001). The amplitude differed significantly above the age of 60 years (P < 0.01) but not between groups e and f (P > 0.05). Conclusion: This study provides reference data for sural SNAP in Indian population at three different sites of stimulation along the calf in six age groups. It also shows significant variation in amplitude from the three different sites of stimulation.
  2,965 103 -
Intractable epileptic spasms in a patient with Pontocerebellar hypoplasia: Severe phenotype of type 2 or another subtype?
Debopam Samanta, Erin Willis
July-September 2016, 19(3):385-387
DOI:10.4103/0972-2327.168629  PMID:27570394
Introduction: Pontocerebellar hypoplasia (PCH) involves a diverse range of etiologies including a group of single gene disorders. Mutations in the tRNA splicing endonuclease complex (TSEN) 54 gene can be responsible for PCH type 2, 4 and 5. The more common and less severe PCH 2 phenotype is caused by homozygosity for the common missense mutation A307S, while the severe phenotype seen in type 4 and 5 is caused by compound heterozygosity of the A307S mutation along with a nonsense or splice site mutation. Report: We report a 4- month-old girl who presented with epileptic spasms that remained intractable to several antiepileptic medications. Magnetic Resonance Imaging (MRI) brain showed fairly severe hypoplasia with superimposed atrophy of the cerebellum and brainstem with prominent extra-axial fluid spaces. Extensive metabolic testing was negative. Commercial testing for PCH via TSEN54 gene revealed missense mutation of Ala307Ser. A novel sequence variant, designated c.17_40 del, was also found and was predictive of an in-frame deletion of eight amino acids. Follow-up over 2 years revealed intractable epileptic spasms, progressive microcephaly and development of prominent choreoathetosis. Conclusion: This case report describes a rare case of PCH with overlapping features of the less severe PCH2 and the more severe PCH4/5 phenotype. It also adds another new entity in the list of genetic conditions where West syndrome and pontocerebellar hypoplasia can be seen together, emphasizing the need for further investigations of the genotype-phenotype correlation of mutations in order to advance our understanding of the pathophysiologic mechanism in these rare conditions.
  2,999 61 -
Endovascular treatment of unruptured posterior circulation intracranial aneurysms
Xianli Lv, Huijian Ge, Hengwei Jin, Hongwei He, Chuhan Jiang, Youxiang Li
July-September 2016, 19(3):302-306
DOI:10.4103/0972-2327.186784  PMID:27570378
Background and Purpose: Endovascular treatment of unruptured posterior circulation intracranial aneurysms (UPCIAs) is limited in the International Study of Unruptured Intracranial Aneurysms (ISUIA). The aim of this study is to evaluate the periprocedural morbidity, mortality, and midterm clinical and angiographic follow-ups of endovascular treatment of UPCIAs. Materials and Methods: Retrospective analysis of all patients treated in a 2-year period (89 patients: 10-78 years of age, mean: 45.5 ± 14.3/92 UPCIAs). Fifty-eight aneurysms were found incidentally, 12 in association with mass effect symptoms and 22 with stroke. Results: A clinical improvement or stable outcome was achieved in 84 patients (94.4%). The two cases of permanent morbidity included a patient with paralysis and another patient with hemianopia. One patient died after treatment of a giant fusiform vertebrobasilar aneurysm. In one patient, the aneurysm ruptured during treatment, resulting in death. Another patient suffered a fatal aneurysm rupture 4 days after treatment. Giant size (P = 0.005) and mass effect presentation (P = 0.029) were independent predictors of unfavorable outcomes in UPCIAs. Angiographic follow-up was available in 76 of the 86 surviving patients (88.4%) with a mean of 6.8 months (range: 1-36 months). Recanalization in six patients (7.9%) at 3 months, 4 months, 4 months, 24 months, and 36 months required retreatment in three patients. In-stent stenosis of >50% was found in three patients. Conclusion: Endovascular therapy is an attractive option for UPCIAs with stable midterm outcome. However, the current endovascular option seems to have a limitation for the treatment of the aneurysm with giant size or mass effect presentation.
  2,974 72 -
Spinocerebellar ataxia type 6 in eastern India: Some new observations
Kalyan B Bhattacharyya, Debabrata Pulai, Deb Shankar Guin, Goutam Ganguly, Anindita Joardar, Sarnava Roy, Saurabh Rai, Atanu Biswas, Alok Pandit, Arijit Roy, Asit Kumar Senapati
July-September 2016, 19(3):360-366
DOI:10.4103/0972-2327.186823  PMID:27570389
Introduction: Spinocerebellar ataxias (SCAs) are hereditary, autosomal dominant progressive neurodegenerative disorders showing clinical and genetic heterogeneity. They are usually manifested clinically in the third to fifth decade of life although there is a wide variability in the age of onset. More than 36 different types of SCAs have been reported so far and about half of them are caused by pathological expansion of the trinucleotide, Cytosine Alanine Guanine (CAG) repeat. The global prevalence of SCA is 0.3-2 per 100,000 population, SCA3 being the commonest variety worldwide, accounting for 20-50 per cent of all cases, though SCA 2 is generally considered as the commonest one in India. However, SCA6 has not been addressed adequately from India though it is common in the eastern Asian countries like, Japan, Korea and Thailand. Objective: The present study was undertaken to identify the prevalence of SCA6 in the city of Kolkata and the eastern part of India. Materials and Methods: 83 consecutive patients were recruited for the study of possible SCAs and their clinical features and genotype were investigated. Results: 6 of the 83 subjects turned out positive for SCA6, constituting therefore, 13.33% of the patient pool. Discussion: SCA6 is prevalent in the eastern part of India, though not as frequent as the other common varieties. Conclusions: Further community based studies are required in order to understand the magnitude of SCA6 in the eastern part, as well as in other regions of India.
  2,828 98 -
Thalamus and vertical gaze: Arguing for an independent association
Sachin Suresh Babu, Laxmi Khanna, Sudhir Peter, Sobhana Chindrippu, Elisheba Patras
July-September 2016, 19(3):426-428
DOI:10.4103/0972-2327.179981  PMID:27570413
  2,847 65 -
Intrasinus thrombolysis in cerebral venous sinus thrombosis: Experience from a university hospital, India
Neeharika L Mathukumalli, Ram Murti Susarla, Mridula R Kandadai, Suryaprabha Turaga, Jabeen A Shaik, Suvarna Alladi, Meena A Kanikannan, Rupam Borgohain, Subhash Kaul
July-September 2016, 19(3):307-311
DOI:10.4103/0972-2327.186785  PMID:27570379
Background: Intrasinus thrombolysis (IST) is believed to improve outcome in patients of cerebral venous sinus thrombosis (CVST) unresponsive to heparin. Purpose: The purpose of this article is to describe our experience with IST in patients of CVST unresponsive to heparin. Materials and Methods: Hospital databases were searched, and patients with CVST who underwent IST from May 2011 to March 2014 were identified. Data on clinical presentation, duration of symptoms, and indications and dosage of IST were retrieved and outcomes analyzed. Results: Twenty-four patients received IST. The presenting symptoms included headache (n = 19), seizures (n = 16), and altered sensorium (n = 14); signs included papilledema (n = 20) and hemiparesis (n = 15). Nineteen patients received unfractionated heparin (UFH), four received low-molecular-weight heparin (LMWH), and one received both. In one patient, microcatheter could not be passed, two patients bled intracranially, and three had nonintracranial bleeds. Among four deaths, none was due to iatrogenic bleeding. On discharge, 10 patients (43.5%) had good improvement with the modified Rankin Scale (score; mRS) ≤2 and eight (34.8%) had partial improvement with mRS = 3, 4. Seventeen patients (73.9%) had mRS ≤2 at 6 months follow-up. Bleeding complications of urokinase were less than those of alteplase. Recanalization of the involved sinuses was achieved in all. Early intervention led to successful recanalization. Functional recanalization decreased intracranial bleeding. Conclusion: Till date, our study is the largest series of IST in CVST reported from India. IST may be more effective than systemic heparin anticoagulation in moribund and unresponsive patients despite the potential for bleeding manifestations. Functional recanalization is adequate for good results. However, a randomized prospective study comparing heparin anticoagulation with IST is warranted.
  2,635 140 -
The factors influencing sleep quality
Serdar Tasdemir, OZ Oguzhan
July-September 2016, 19(3):422-422
DOI:10.4103/0972-2327.186859  PMID:27570410
  2,641 45 -
Functional capacity in a late-onset Pompe disease patient: Effect of enzyme replacement therapy and exercise training
Argyro A Krase, Giorgos K Papadimas, Gerasimos D Terzis
July-September 2016, 19(3):423-424
DOI:10.4103/0972-2327.179980  PMID:27570411
  2,621 43 -
Anti-cysticercus antibody detection in saliva as a potential diagnostic tool for neurocysticercosis
Rumpa Saha, Priyamvada Roy, Shukla Das, Dheeraj Shah, Sunil Agarwal, Iqbal Rajinder Kaur
July-September 2016, 19(3):414-416
DOI:10.4103/0972-2327.179972  PMID:27570404
Objectives: This study was planned to determine the usefulness of anti-cysticercus IgG antibody detection in saliva for neurocysticercosis (NCC) diagnosis, along with serum C-reactive protein (CRP) level to serve as a surrogate marker. Materials and Methods: In this prospective study of 14 months duration, blood and saliva samples were collected from 40 patients suspected to be suffering from NCC and were subjected to anti-cysticercus IgG antibody detection by ELISA. Serum CRP levels were estimated as acute-phase reactant by high sensitivity CRP ELISA. Results: Anti-cysticercus IgG was detected in serum and saliva of 34 and 30 patients, respectively. Cases positive for salivary antibody were positive for serum antibody and their serum CRP level was higher than normal. Cases negative for salivary antibody had low serum CRP levels. Anti-cysticercus IgG detection in saliva was 88.24% sensitive, 100% specific, and had a positive predictive value of 100% and negative predictive value of 60%. Positive salivary anti-cysticercus IgG and high serum CRP level showed a significant association. Difference between CRP levels of patients positive for anti-cysticercus antibody in both serum and saliva, and patients positive for antibody in serum but not saliva was highly significant. Conclusions: Saliva, being painless and noninvasive, can be used as alternative to serum for NCC diagnosis.
  2,587 64 -
Primary CNS vasculitis presenting as intraventricular bleeding
Sreeja Hareendranathan Pillai, Sapna Erat Sreedharan, Girish Menon, Santhosh Kannoth, PN Sylaja
July-September 2016, 19(3):406-408
DOI:10.4103/0972-2327.186845  PMID:27570401
Primary angiitis of the central nervous system (PACNS) is a rare disorder affecting both medium- and small-sized vessels. Intracranial haemorrhages though less reported are in the form of parenchymal haemorrhage and subarachnoid haemorrhage. We report a case of PACNS with intraventricular haemorrhage due to aneurysms secondary to progression of vasculitis.
  2,394 69 -
Congenital muscular dystrophy with inflammation: Diagnostic considerations
Kaumudi Konkay, Meena Angamuthu Kannan, Lokesh Lingappa, Megha S Uppin, Sundaram Challa
July-September 2016, 19(3):356-359
DOI:10.4103/0972-2327.186814  PMID:27570388
Background and Purpose: Muscle biopsy features of congenital muscular dystrophies (CMD) vary from usual dystrophic picture to normal or nonspecific myopathic picture or prominent fibrosis or striking inflammatory infiltrate, which may lead to diagnostic errors. A series of patients of CMD with significant inflammatory infiltrates on muscle biopsy were correlated with laminin α 2 deficiency on immunohistochemistry (IHC). Material and Methods: Cryostat sections of muscle biopsies from the patients diagnosed as CMD on clinical and muscle biopsy features from 1996 to 2014 were reviewed with hematoxylin and eosin(H&E), enzyme and immunohistochemistry (IHC) with laminin α 2. Muscle biopsies with inflammatory infiltrate were correlated with laminin α 2 deficiency. Results: There were 65 patients of CMD, with inflammation on muscle biopsy in 16. IHC with laminin α 2 was available in nine patients, of which six showed complete absence along sarcolemma (five presented with floppy infant syndrome and one with delayed motor milestones) and three showed discontinuous, and less intense staining. Conclusions: CMD show variable degrees of inflammation on muscle biopsy. A diagnosis of laminin α 2 deficient CMD should be considered in patients of muscular dystrophy with inflammation, in children with hypotonia/delayed motor milestones.
  2,362 76 -
Does antiepileptic drug withdrawal predispose patients undergoing temporal lobe epilepsy surgery to late onset of psychiatric morbidity? A report of three cases
Garima Shukla, Priya Agarwal, Rajesh Sagar, Mamta Sood, Aditya Gupta, Ashish Suri, Ajay Garg
July-September 2016, 19(3):377-380
DOI:10.4103/0972-2327.186828  PMID:27570392
Surgery is an established and increasingly utilized treatment option in medically refractory temporal lobe epilepsy. Many psychiatric problems are known to complicate in the postoperative period. Most studies have a follow-up period of less than 24 months. We report the cases of three patients who developed severe psychiatric problems in the late postoperative period after successful temporal lobectomy for refractory epilepsy - Psychosis, major depression with psychosis, and severe anxiety disorder, respectively. None of the patients had past or family history of psychiatric disease. All three patients had undergone anterior temporal lobectomy on the right side for intractable epilepsy. They remained absolutely seizure-free after surgery. We conclude that psychiatric morbidity may arise de novo long after temporal lobectomy. This association between temporal lobectomy for epilepsy and late onset psychiatric morbidity should be carefully studied. Mechanisms underlying this late complication require deeper understanding of the effects of epilepsy surgery.
  2,359 55 -
Postoperative posterior ischemic optic neuropathy (PION) following right pterional meningioma surgery
Boby Varkey Maramattom, Shyam Sundar, Dalvin Thomas, Dilip Panikar
July-September 2016, 19(3):374-376
DOI:10.4103/0972-2327.186826  PMID:27570391
Postoperative visual loss (POVL) is an unpredictable complication of nonocular surgeries. Posterior ischemic optic neuropathy (PION) is particularly feared in spinal surgeries in the prone position. We report a rare case of PION occurring after surgery for a pterional meningioma and discuss the various factors implicated in POVL.
  2,350 59 -
Simultaneous occurrence of scleroderma, neuromyotonia, and inflammatory myopathy: Evidence of common immunological etiology
Deepa Dash, Mukesh Kumar, Vaishali Suri, Madakasira Vasantha Padma, Manjari Tripathi
July-September 2016, 19(3):424-426
DOI:10.4103/0972-2327.179977  PMID:27570412
  2,283 53 -
Adolf Hitler and his parkinsonism
Kurt A Jellinger
July-September 2016, 19(3):419-419
DOI:10.4103/0972-2327.186856  PMID:27570407
  2,049 52 -
Narcolepsy in midbrain structural lesion
Rosaria Renna, Tatiana Koudriavtseva, Antonio Renna, Severino Renna
July-September 2016, 19(3):404-405
DOI:10.4103/0972-2327.186844  PMID:27570400
  1,947 52 -
Kinked carotids: The "python" in the neck
Aastha Takkar, Dheeraj Khurana, Niranjan Khandelwal
July-September 2016, 19(3):409-410
DOI:10.4103/0972-2327.186846  PMID:27570402
  1,918 55 -
Perceived caregiver stress in Alzheimer's disease and mild cognitive impairment: A case control study
Kuljeet Singh Anand, Vikas Dhikav, Ankur Sachdeva, Pinki Mishra
July-September 2016, 19(3):418-418
DOI:10.4103/0972-2327.186855  PMID:27570406
  1,826 51 -
Response to the letter to the editor
SA Jabeen, G Sandeep, Rukmini Mridula, AK Meena, Rupam Borgohain
July-September 2016, 19(3):421-421
DOI:10.4103/0972-2327.186858  PMID:27570409
  1,836 40 -
Choosing controls
Sunil Kumar Raina
July-September 2016, 19(3):417-417
DOI:10.4103/0972-2327.186854  PMID:27570405
  1,774 49 -
Transient symmetric T2-hyperintensities of basal ganglia and brainstem not only point to Leigh syndrome
Josef Finsterer, Sinda Zarrouk-Mahjoub
July-September 2016, 19(3):419-420
DOI:10.4103/0972-2327.186857  PMID:27570408
  1,716 44 -
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