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REVIEW ARTICLES |
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Electroencephalogram after first unprovoked seizure in children: Routine, unnecessary or case specific |
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Arif Khan, Aravindhan Baheerathan DOI:10.4103/1817-1745.111412 PMID:23772234A child is brought into a paediatric emergency unit with an unprovoked, afebrile first seizure. We conduct a clinical assessment of the child and rule out any acute metabolic, traumatic or infectious causes and consequently, make the diagnosis of an epileptic seizure. The International League against Epilepsy (ILAE) suggests that following such a diagnosis, the next step should be the appropriate classification of the seizure type, after which an appropriate syndrome diagnosis should be made. (1) Should an EEG be arranged for this child and if so, should it be arranged within 24 hours or within the next week? If we decide not to arrange an EEG this time and to do so if any further seizures occur, are we practicing evidence based medicine? A recent guideline published by the Royal College of paediatrics and child health (RCPCH) asserted: "There is no need for an EEG following a first simple afebrile seizure". (2) This is a very bold and clear statement but what evidence and what quality of evidence is this statement based upon? This review analyses and discusses prominent literature regarding this widely-discussed topic. |
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Vitamin D deficiency in children with epilepsy: Do we need to detect and treat it? |
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Pooja Harijan, Arif Khan, Nahin Hussain DOI:10.4103/1817-1745.111413 PMID:23772235Children and adolescents treated with antiepileptic drugs are known to have problems with bone metabolism, bone mineral density loss, and 2-3 times the fracture risk of healthy controls. We reviewed the literature regarding bone mineral density in children with epilepsy and vitamin D therapy in children treated with anti-epileptic drugs. Studies of bone mineral density markers in children with epilepsy have mostly found little significant difference in bone mineral density markers in children with epilepsy. They have been limited by small sample size and many of the studies have not corrected for confounding factors such as comorbidities, mobility, nutrition, and obesity. Studies of vitamin D therapy in children with epilepsy have shown little evidence of effect and have been similarly limited by lack of stratification with regard to confounding factors. There is a need for larger studies, using clinically significant outcomes such as fractures, including at risk populations such as symptomatic generalised epilepsy, impaired mobility, and polytherapy. At the present time in the absence of good evidence to the contrary, there remains concern that children with epilepsy are at risk of poor bone health and that vitamin D therapy may be beneficial. As low-dose vitamin D supplementation (400 IU per day) is now recommended for healthy children and it is biologically feasible that children with epilepsy may be at higher risk of clinically significant deficiency, it is important that neurologists ensure that low-dose vitamin D supplementation should be prescribed and compliance followed up in children with epilepsy.
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ORIGINAL ARTICLES |
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Neurobehavior of term neonates with neonatal hyperbilirubinemia |
p. 11 |
Thirunavukkarasu Arun Babu, B Vishnu Bhat, Noyal Mariya Joseph DOI:10.4103/1817-1745.111414 PMID:23772236Objective: To find the effect of neonatal hyperbilirubinemia on neurobehavior of term infants. Materials and Methods: This study was undertaken in the neonatal unit of our tertiary care hospital. Term neonates who developed jaundice with serum bilirubin value of above 15 mg/dl within 1 st week of life were enrolled in the study. Peak total serum bilirubin (PSB) levels of cases were recorded. Age and sex matched normal controls were assigned to every case. Both the groups were assessed by Brazelton's neurobehavioral assessment scale (NBAS) and the scores of the individual clusters were compared. Results: Habituation, range of state, autonomic regulation and regulation of state clusters were significantly altered in the case group, while motor organization cluster was mainly affected in neonates with severe jaundice (PSB > 25 mg/dl). No differences were noted in the reflex and orientation NBAS clusters. Conclusion: Neonatal hyperbilirubinemia causes definite alteration in the neonatal neurobehavior. |
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Supratentorial ependymomas in children: Analysis of nine cases |
p. 15 |
George A Alexiou, Maria Moschovi, Kalliopi Stefanaki, Dimitrios Panagopoulos, Maria Tsotra, George Siozos, George Sfakianos, Neofytos Prodromou DOI:10.4103/1817-1745.111415 PMID:23772237Background: Intracranial ependymomas are the third most common primary brain tumor in children. In the present study, we set out to investigate the expression of p-53, p-27, bcl-2, epidermal growth factor receptor (EGFR) and of neuronal markers in pediatric supratentorial ependymomas, in correlation with Ki-67/MIB-1 proliferation index and prognosis. Materials and Methods: Nine children with supratentorial ependymomas that were treated surgically in our institute over the last seven years were identified and included in the study. The extent of resection was classified as gross total and subtotal, and was determined by MRI scans. The ependymal tumors were classified according to WHO classification. Results: Headache and seizures were the most common presenting symptoms and papilledema the most common sign. In seven cases, gross total excision was performed, and in two cases, the resection was subtotal. All ependymomas were anaplastic. Ki-67/MIB-1 was detected in 20-40% of the nuclei in all tumors. There was also increased expression of p-53, bcl-2, p-27, and EGFR. There was expression of neuronal markers in three cases. After a mean follow-up period of 32.1 months (range 16-74 months), eight children were alive. Five children suffered from tumor recurrence. Conclusions: Complete surgical excision should be the goal of surgery. The prognostic role of Ki-67, p-53, p-27, bcl-2, EGFR, and neuronal markers expression needs to be determined in multi-institutional studies due to tumor's rarity. |
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Congenital myasthenic syndromes: Clinical and molecular report on 7 Sicilian patients |
p. 19 |
Piero Pavone, Agata Polizzi, Maria Roberta Longo, Katia Romano, Michele Vecchio, Andrea D Praticò, Raffaele Falsaperla DOI:10.4103/1817-1745.111416 PMID:23772238Background: Congenital myasthenic syndromes (CMS) are a heterogeneous group of diseases involving neuromuscular transmission. The classification of these syndromes is based on the localization of the defect (pre-synaptic, post-synaptic, and neuromuscular junction) and on the molecular analysis. Aim: To report on a series of 7 patients affected by post-synaptic CMS. Patients and Methods: We examined sex, familiarity, age of onset, clinical symptoms, and response to tensilon test, patellar and pupillary reflexes, presence of cranial nerve involvement, Gowers' sign, presence of ptosis, grade of muscular weakness, and response to the treatment and gene deletions. Results: Ptosis, muscular hypotonia, and light variability in muscular weakness were the main clinical signs. Cholinergic receptor, nicotinic, epsilon (CHRNE) gene mutations were mainly reported. Conclusions: The study points out that the clinical and molecular pattern reported in our patients do not differentiate from the data reported in the literature. Treatment with pyridostigmine and modulation of the therapy allows a good quality of life. |
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Neurological distress in Togolese newborn: Prevalence, causes and clinical features |
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Balaka Bahoura, Assogba Komi, M Ossou-Nguiet Paul, Apetsè Kossivi, Kapitan-Gnimdu Magnoudewa DOI:10.4103/1817-1745.111417 PMID:23772239Background: The transition from fetal to neonatal life during birth is difficult for all babies. We aim to analyze the demography, clinical presentation, causes, and outcome of neurologically distressed newborns. Materials and Methods: We reviewed a total of 615 newborns files admitted with life threatening condition. Amongst them, 453 had presented neurological distress syndrome. Only cases with severe neurological impairment (Apgar Score System [ASS] ≤6) with no other associated injury were included in the study group. The study covered a period from January to December 2011 and located in pediatric intensive care unit. The information regarding clinical presentation, condition of birth, causes of distress, and outcome were analyzed. Neonate examination had been conducted by neonatologist and pediatric neurologist. Results: The sample included 272/453 (60.04%) males and 181/453 (39.96%) females. Newborns were aged from 1 to 14 days. The incidence of neurological distress amongst all admissions was 453/615 (73.65%). Clinical signs were weakness of primary reflexes (86.70%), non reactivity (78.19%), flaccid muscle tone (59.49%) and impaired consciousness (32.29%). On Apgar score, 73 (20.68%) had a score from 0 to 3; 234 (66.29%) had a score 4-6 in the first minute of life. A total of 307 (86.97%) newborns had been resuscitated at birth during the first five minutes. Death rate was 35.69%. Asphyxia (51.27%) and neonatal infection (43.34%) were the most common causes of death. Conclusion: These results show that much effort remains to be done in obstetric care, resuscitation management and improvement in neonatal infection care. |
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Acute demyelinating encephalomyelitis: Clinical characteristics and outcome |
p. 26 |
Ahmed Farag Elhassanien, Hesham Abdel Aziz DOI:10.4103/1817-1745.111418 PMID:23772240Background: ADEM, although relatively uncommon, is probably under-recognized. Objectives: To spotlight the clinical profile and therapeutic outcome of children with ADEM. Materials and Methods: This is a prospective study of patients with ADEM who were admitted to the Pediatric Departments in Aladan and Alfarawanya Hospitals in Kuwait, from January 2009 to January 2011. Clinical, microbiological and radiological data were analyzed. Results: Of 48 patients presented with acute neurological symptoms and signs, 21 patients fulfilled criteria for ADEM. 80.95% of cases were presenting in winter and spring, 57% of patients had a history of upper respiratory tract illness. The commonest presentations were motor deficits, convulsions and altered consciousness. CSF virology studies showed herpes simplex virus (HSV) and Epstein-Barr virus (EBV) (3 patients) whereas nasal and nasopharyngeal swab showed evidence of influenza H1N1 virus (1 patient). Brain MRI was performed in all patients and revealed multiple hyperintense supratentorial brain lesions on T2/FLAIR images. 85.7% of patients had cortical and/or subcortical white matter lesions which were bilateral and asymmetric in location and size. Conclusion: ADEM although rare must be considered in children with acute onset of neurological signs and symptoms and must be distinguished from any acute neurological insult. |
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NEUROIMAGING |
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Neuroradiological findings in maple syrup urine disease |
p. 31 |
Venkatraman Indiran, R Emmanuel Gunaseelan DOI:10.4103/1817-1745.111419 PMID:23772241Maple syrup urine disease is a rare inborn error of amino acid metabolism involving catabolic pathway of the branched-chain amino acids. This disease, if left untreated, may cause damage to the brain and may even cause death. These patients typically present with distinctive maple syrup odour of sweat and urine. Patients typically present with skin and urine smelling like maple syrup. Here we describe a case with relevant magnetic resonance imaging findings and confirmatory biochemical findings. |
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CASE REPORTS |
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Infantile osteopetrosis, craniosynostosis, and Chiari malformation type I with novel OSTEM1 mutation |
p. 34 |
AH Mahmoud Adel, A Al Jabri Abdullah, Faqeih Eissa DOI:10.4103/1817-1745.111420 PMID:23772242We report a case of a 9-month-old Arab infant, with novel OSTEM mutation and unpublished triad of osteopetrosis (OP), craniosynostosis (CS), and Chiari malformation type I (CM1). The index presented with progressive irritability, abnormal movements, following an accidental fall. The history revealed early onset of irritability, progressive visual loss, and global developmental delay, more prominent at the gross motor level and a suspected congenital cytomegalovirus infection. The pregnancy was uneventful with subsequent unremarkable delivery. The parents are Arabs'first cousins with no apparent symptoms or signs of bone disease. Three dimensional brain computed tomography (CT) showed ventriculomegaly, thick calvaria, and CS of the coronal and sagittal sutures. Patient had signs of left lower motor neuron facial palsy, and CT of petrous bones confirms the presence of osteopetrotic petrous with slim mastoid portions of the facial nerve canals both sides. Brain magnetic resonance imaging showed CM1. Skeletal survey showed sclerotic skeleton. He needed ventriculoperitoneal shunt and died at 18 months of age. Molecular testing for OSTEM1 gene revealed novel homozygous mutation that segregated from his parents. This novel OSTEM1 gene novel mutation and the combination of OP, infantile CS, and CM1 is to our knowledge never been reported. |
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Giant cell glioblastoma in the pediatric age group: Report of two cases |
p. 38 |
Sachin Anil Borkar, G Lakshmiprasad, Kiran Chikkanahalli Subbarao, Mehar Chand Sharma, Ashok K Mahapatra DOI:10.4103/1817-1745.111421 PMID:23772243Giant cell glioblastoma multiforme is a rare subgroup of glioblastoma multiforme. It constitutes about 5% of all glioblastoma cases. Pediatric giant cell glioblastoma is extremely rare. We report two such cases of giant cell glioblastoma in pediatric age group (≤18 years). The pertinent literature is reviewed regarding this uncommon entity. |
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Brainstem ganglioglioma in an infant: Case report and review of literature |
p. 41 |
CV Gopalakrishnan, Adesh Shrivastava, Suresh Nair, Neelima Radhakrishnan DOI:10.4103/1817-1745.111422 PMID:23772244Gangliogliomas are well differentiated, usually low grade, neuroepithelial tumors that comprise of neoplastic ganglion cells in combination with neoplastic glial cells. Occasionally, glial cells may show anaplastic features and are then labeled as anaplastic gangliogliomas. Most of the reported gangliogliomas are supratentorial tumors, predominantly in the temporal lobe. Brainstem location has been reported infrequently. As with cortically based gangliogliomas, though the primary treatment is resection, this is often not possible due to the eloquence of surrounding involved parenchyma. Here, we report a case of brainstem tumor in an 8-month-old child that was substantially resected and was histopathologically Grade 1 ganglioglioma. As per review of English literature, there has been no case of brainstem ganglioglioma reported in an infant (less than 1 year age). We discuss the surgical difficulties in the radical excision of such benign tumors and review literature on pediatric brainstem gangliogliomas. |
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Deep brain stimulation improves quality of life in pantothenate kinase-associated neurodegeneration |
p. 46 |
Kiran P Sathe, Anaita U Hegde, Paresh K Doshi DOI:10.4103/1817-1745.111423 PMID:23772245Pantothenate kinase-associated neurodegeneration (PKAN) is an uncommon extrapyramidal movement disorder characterized by the progressive incapacitating dystonia. Medical management is often incapable of reversing the dystonic symptoms. In recent years, stereotactic procedure like deep brain stimulation has been found effective in resolving the disabling dystonia and improving the quality of life. There are few cases in the world literature highlighting the usefulness of this technique. We report a case of 10-year-old girl who underwent bilateral Globus pallidus internus stimulation for PKAN. |
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Novel CLN1 mutation with atypical juvenile neuronal ceroid lipofuscinosis |
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Arif Khan, Kwong S Chieng, Aravindhan Baheerathan, Nahin Hussain, Jayprakash Gosalakkal DOI:10.4103/1817-1745.111424 PMID:23772246We detected a novel CLN1 gene mutation (p.Arg151X, heterogenous) in a 12-year-old boy. Low level of palmitoyl protein thioesterase and granular inclusion pattern in lymphocytes were also consistent with infantile Neuronal ceroid lipofuscinosis (INCL). However, the clinical phenotype was that of atypical juvenile neuronal ceroid lipofuscinosis (JNCL) and consisted of progressive visual loss from the age of 8 years. His visual acuity was 6/60 in both eyes at first presentation, 6/36 one month later, then 6/6 (right eye), and 6/60 (left eye) 6 months later. However, after 4 months, visual acuity dropped to 6/60 in both eyes and at last follow-up, it was 6/60 (right eye) and 3/60 (left eye). Visual hallucinations were also reported. Persistent normal fundi findings, normal electroretinogram (ERG), and delayed visual evoked potentials (VEP) were suggestive of non-retinal adolescence form/atypical JNCL. Visual loss in JNCL is secondary to retinal dystrophy. Our observations suggest that JNCL should be considered in any children presenting with bilateral progressive visual loss even with normal fundi and/or delayed VEP. Electron microscopy of buffy coat and palmitoyl protein thioesterase enzyme study are useful tools in diagnosis. Pertinent issues regarding clinical symptomatology, ophthalmologic findings, and laboratory results are discussed. |
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A rare case of giant terminal lipomyelocystocele with partial sacral agenesis |
p. 52 |
Shashank Ravindra Ramdurg, S Jerwargikar Rajshekhar, Shubhi Dubey, Avinash R Odugoudar DOI:10.4103/1817-1745.111425 PMID:23772247Terminal myelocystoceles (TMCs) are a rare form of occult spinal dysraphism. They constitute approximately 5% of skin covered lumbosacral masses. The TMC is composed of a low-lying conus medullaris with cystic dilatation of caudal central canal, a surrounding meningocele and a lipoma that extends from the conus to a subcutaneous fat collection. A 6-month-old female child presented with a large lumbosacral mass (14 cm × 12 cm × 10 cm) and weakness at the ankle joints since birth. Magnetic resonance imaging and computed tomography scan revealed a low-lying terminal lipomyelocystocele with holocord syrinx and partial sacral agenesis. The child was operated on successfully. This is an interesting and rare case of giant terminal lipomyelocystocoele with syrinx and a partial sacral agenesis. Terminal lipomyelocystocele should be included in the differential diagnosis of congenital lesions presenting as a lumbosacral mass and operated early. |
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Tethered cord syndrome in adolescents: Report of two cases and review of literature |
p. 55 |
Sudhansu Sekhar Mishra, Souvagya Panigrahi, Manmath Kumar Dhir, Deepak Kumar Parida DOI:10.4103/1817-1745.111426 PMID:23772248The symptoms of tethered cord syndrome (TCS) cases mostly appear during infancy and childhood. Though the adolescent presentation of TCS is well-recognized, it continues to pose significant diagnostic and management controversies. In this report, we describe two cases of adolescent onset TCS associated with two different etiologies. Our first case, an 18-year-old girl who presented due to overflow incontinence in association with TCS was diagnosed to have lumbar meningocele. The second case, a 19-year-girl presenting with perianal anesthesia and bowel and bladder incontinence had lipomyelomeningocele as the cause of TCS. Both of them underwent untethering surgery. The clinical charts and follow-up data were studied in respect to the clinical manifestation, surgical intervention and outcome with a brief review of pertinent literature. |
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Coexistence of myositis, transverse myelitis, and Guillain Barré syndrome following Mycoplasma pneumoniae infection in an adolescent |
p. 59 |
Yasemin Topcu, Erhan Bayram, Pakize Karaoglu, Uluc Yis, Handan Guleryuz, Semra Hiz Kurul DOI:10.4103/1817-1745.111428 PMID:23772249Guillain-Barré syndrome (GBS) and transverse myelitis may occur coexistently in the pediatric population. This may be explained by a shared epitope between peripheral and central nervous system myelin. Coexistent transverse myelitis, myositis, and acute motor neuropathy in childhood have not been previously described. We describe a 14-year-old female patient with transverse myelitis, myositis, and GBS following Mycoplasma pneumoniae infection. She presented with weakness and walking disability. Weakness progressed to involve all extremities and ultimately, she was unable to stand and sit. Based on the clinical findings, a presumptive diagnosis of myositis was made at an outside institution because of high serum creatine kinase level. The patient was referred to our institution for further investigation. Magnetic resonance imaging of spine revealed enhancing hyperintense lesions in the anterior cervicothoracic spinal cord. The electromyography revealed acute motor polyneuropathy. Serum M. pneumoniae IgM and IgG were positive indicating an acute infection. Repeated M. pneumoniae serology showed a significant increase in Mycoplasma IgG titer. The patient was given intravenous immunoglobulin for 2 days and clarithromycin for 2 weeks. She was able to walk without support after 2 weeks of hospitalization. This paper emphasizes the rarity of concomitant myositis, transverse myelitis, and GBS in children. |
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Acute encephalopathy with biphasic seizures and late reduced diffusion |
p. 64 |
Saroj S Yadav, Malini A Lawande, Shilpa D Kulkarni, Deepak A Patkar DOI:10.4103/1817-1745.111429 PMID:23772250Acute encephalopathy with biphasic seizures and reduced diffusion (AESD) is a syndrome of encephalopathy characterized by biphasic seizures and altered consciousness in the acute stage followed in the subacute stage by restricted diffusion in the subcortical white matter on magnetic resonance imaging. The etiology of AESD has been attributed to viral infection like influenza A and human herpes virus 6. The exact pathogenesis of AESD is uncertain. Here we report a case of AESD, diagnosed based on clinicoradiological correlation. |
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Vulvar migration of the peritoneal end through the inguinal canal in a female infant: An unusual complication of the ventriculo-peritoneal shunt: A case report and review of literature |
p. 67 |
Mayur Sharma, Vernon Velho, Rahul Mally, K Hrushikesh DOI:10.4103/1817-1745.111430 PMID:23772251Migration of the peritoneal end of the ventriculo-peritoneal shunt through the patent processus vaginalis has been described in preterm male infants with 26 such cases in the literature. The occurrence of this rare complication in the female preterm infants has not yet been reported. We report a 3-month-old premature female infant who presented with a gradual increase in head size since birth. Computed tomography revealed obstructive hydrocephalous secondary to the aqueductal stenosis and ventriculo-peritoneal shunt was performed. Ten days following the procedure she presented with swelling and other signs of inflammation over the right vulvar region. X-ray abdomen confirmed the migration of the peritoneal end into the vulva. Surgical obliteration of the patent processus vaginalis and replacement of the peritoneal end was performed. The patient had no recurrence at 6 months of follow-up. This report presents the unusual complication of a common procedure in a female infant with a review of the current literature. |
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Gelastic seizures and fever originating from a parietal cortical dysplasia |
p. 70 |
Sana Chaouki, Saïd Boujraf, Samir Atmani, Larbi Elarqam, Wafae Messouak DOI:10.4103/1817-1745.111433 PMID:23772252Gelastic seizures (GS) is an uncommon seizure type characterized by sudden inappropriate attacks of uncontrolled and unmotivated laugh and its diagnostic criteria were elaborated by Gascon. These criteria included stereotypical recurrence of laugh, which is unjustified by the context, associated signs compatible with seizure, and ictal or interictal abnormalities. GS can be cryptogenic or symptomatic of a variety of cerebral lesions, the most common being hypothalamic hamartoma. However, GS associated with other types of cerebral lesions are exceedingly rare. The physiopathologic mechanisms of this type of seizure are still undefined. Two reports have described a non-lesional GS arising from a parietal focus. In this paper, we report the first case of lesional GS associated to the parietal area of the brain in a child and this case has associated fever that is likely an ictal symptom. |
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LETTERS TO THE EDITOR |
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The risk of seizure recurrence after a first unprovoked seizure in childhood: A prospective study |
p. 73 |
Sujit Abajirao Jagtap, Anupama Mauskar, Neeta Naik DOI:10.4103/1817-1745.111435 PMID:23772253 |
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Dermoid cyst splitting the spinal cord |
p. 74 |
Sameer S Futane, Pravin Salunke DOI:10.4103/1817-1745.111436 PMID:23772254 |
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Rare case of primary primitive neuroectodermal tumour of sacral region in a child and its follow-up |
p. 75 |
Ashis Patnaik, Sudhansu Sekhar Mishra, Sanjib Mishra DOI:10.4103/1817-1745.111437 PMID:23772255 |
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Megalencephalic leukoencephalopathy with sub cortical cysts: An inherited dysmyelinating disorder |
p. 77 |
Sunil Kumar Bajaj, Ritu Misra, Rohini Gupta, Ranjan Chandra, Amita Malik DOI:10.4103/1817-1745.111438 PMID:23772256 |
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Acute encephalopathy following the use of aluminum hydroxide in a boy affected with chronic kidney disease |
p. 81 |
Majid Malaki DOI:10.4103/1817-1745.111439 PMID:23772257 |
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Subdural effusion in infantile tremor syndrome |
p. 82 |
Garima Chandak Bang, Hema Mittal, Anju Aggarwal DOI:10.4103/1817-1745.111440 PMID:23772258 |
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Surgical management of double giant tuberculomas of brain involving both supratentorial and infratentorial compartments |
p. 84 |
Ashis Patnaik, Sudhansu Sekhar Mishra, Satya Bhusan Senapati DOI:10.4103/1817-1745.111441 PMID:23772259 |
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Tuberculous abscess: The correct perspective |
p. 85 |
Vengalathur Ganesan Ramesh DOI:10.4103/1817-1745.111442 PMID:23772260 |
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Authors' reply |
p. 86 |
Mohd Khalid , Saifullah Khalid, Sushant Mittal, Urooj Ahmad |
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