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EDITORIAL |
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Postoperative pneumoventricle following posterior fossa tumor surgery in sitting position: Plugging the aqueduct |
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Dattatraya Muzumdar DOI:10.4103/jpn.JPN_35_20 |
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ORIGINAL ARTICLES |
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Relation between febrile seizure recurrence and hyponatremia in children: A single-center trial |
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Mohammad Reza Navaeifar, Ali Abbaskhanian, Akram Farmanbarborji DOI:10.4103/jpn.JPN_4_19 Background: Febrile seizure (FS) is one of the most common types of seizure in pediatrics. Objective: The aim of this study was to compare serum sodium in children with simple or recurrent FS and seizure without fever. Materials and Methods: This was a cross-sectional prospective study conducted between September 2015 and April 2017 in patients aged between 6 months and 6 years, who were admitted to a tertiary educational medical center in the north of Iran. Patients were categorized into three groups, group A: simple FS, group B: recurrent FS, and group C: afebrile seizure. Serum sodium level was measured on admission and/or when the seizure occurred. Results: The study included 248 patients aged 6 months to 6 years. Their mean age was 22.38 ± 1.34 months. Hyponatremia was found in 6% of group A, 7.5% of group B, and 6% of group C. The mean sodium level in group A (134.46 ± 2.3 mEq/L) and group B (134.35 ± 2.06 mEq/L) did not disclose meaningful difference, but it was significantly lower in febrile groups than in the control group. Conclusion: Although the results did not show that the lower level of serum sodium increased the risk of seizure recurrence during the next 24h in febrile illness, lower serum sodium concentration was more common in FS groups. |
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Auditory and visual P300 responses in early cognitive assessment of children and adolescents with epilepsy |
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Sangeeta Gupta, Arun Prasad, Ramji Singh, Gaurav Gupta DOI:10.4103/jpn.JPN_21_19 Background: The event-related potential P300 has been suggested to be valuable in the assessment of cognitive dysfunctions. Not a great deal of neurophysiological assessment has been performed at early stages in patients with epilepsy involving visual and auditory P300 measures. Aims and Objectives: This study aimed to assess the cognitive status in patients with epilepsy earlier by visual and auditory P300 and to find their correlation with various risk factors. Materials and Methods: P300 was recorded in 60 children with epilepsy in the age-group of 5–18 years and 60 age- and sex-matched controls by a rare-frequent (oddball) paradigm. Mean auditory and visual P300 latencies and amplitudes were compared among patients with epilepsy and controls and among patients with generalized and focal epilepsy by unpaired t-test. Pearson’s correlation coefficient test was computed for studying the correlation between risk factors and P300 responses. A value of P < 0.05 was considered statistically significant. Results: Statistically significant delay in P300 latencies and reduction in amplitudes (both visual and auditory) was found in patients with epilepsy as compared to controls and also among patients with generalized and focal epilepsy. In generalized epilepsy, both visual and auditory P300 revealed significant delay, whereas only auditory P300 delay was found in focal form. No significant correlation was obtained with risk factors. No significant difference was found in P300 responses among patients with and without antiepileptic treatment. Conclusion: Visual and auditory P300 latencies have an important role in the evaluation of early cognitive dysfunctions in children with epilepsy. P300 potentials are not influenced by antiepileptic treatment, whereas the type of epilepsy alters them |
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Intravenous levetiracetam for treatment of seizures in term and preterm neonates |
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Pakize Karaoglu, Semra Hız, Burçin İşcan, Ayşe İ Polat, Müge Ayanoğlu, Nuray Duman, Uluç Yiş’ DOI:10.4103/jpn.JPN_66_19 Context: Seizures are the most frequent neurological disturbance in the neonatal period, and there are no evidence-based guidelines for the treatment of neonatal seizures. Here we report a study on the use of levetiracetam as second-line therapy in the treatment of seizures in term and preterm neonates. Aim: The aim of this study was to assess the efficacy and safety of levetiracetam for seizures of term and preterm neonates. Settings and Design: We retrospectively analyzed data of the patients who had seizures and who were treated with levetiracetam as an add-on therapy to phenobarbital during the neonatal period. Statistical Analysis: The Statistical Package for the Social Sciences (SPSS) software, version 15.0 (SPSS, Chicago, Illinois), was used for statistical analysis. Continuous variables were expressed as mean values and standard deviations. Results: Thirty-six patients (8 term and 28 preterm) received levetiracetam. Mean dose of levetiracetam was 31.67 ± 14.83mg/kg/day. Twenty-five of the patients (69.4%) were seizure free with levetiracetam treatment. Electroencephalography recordings improved in 28 (77.8%) of the patients after levetiracetam. No severe adverse effects were observed. Conclusion: Our data suggest that levetiracetam may be a safe and effective treatment for neonatal seizures, which are unresponsive to phenobarbital. |
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Prevalence of vitamin B12 deficiency in West syndrome: A retrospective chart review |
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Manjeet Singh, Mohit Bansal, Jaya S Kaushik DOI:10.4103/jpn.JPN_68_19 Aims and Objectives: The aim of this study was to describe the vitamin B12 status among children treated for West syndrome and to review the clinical response to vitamin B12 supplementation among those found deficient. Materials and Methods: Hospital records of children with West syndrome with a minimum follow-up of 6 months where serum vitamin B12 was estimated during the course of treatment were identified. Records were studied for etiology, and their response to clinical treatment was noted. Results: The two main etiology were cryptogenic in 12 (46.2%), and perinatal asphyxia in 10 (38.5%) children. Serum vitamin B12 levels (levels < 203 pg/mL) were deficient in two (7.7%) children of the 26 eligible records. On vitamin B12 supplementation, both of these children did not achieve any reduction in the frequency of spasm. Conclusion: In this limited cross-sectional study, vitamin B12 was deficient in 7.7% of children with West syndrome with lack of reduction in frequency of spasm on B12 supplementation. |
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CASE REPORTS |
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A rare case of sphenoid encephalocoele presenting with fifth cranial nerve involvement |
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Rohit Wadikhaye, Vamsi Krishna Yerramneni, Thirumal Yerragunta, Neeraj Sharma DOI:10.4103/jpn.JPN_8_19 A 14-year-old girl presented with chronic headache, recurrent episodes of vomiting, fever, and two episodes of generalized tonic clonic seizure in the past 2 months. Neuroimaging revealed herniation of the brain along with the dura through a defect in the left greater wing of the sphenoid. Left pterional craniotomy was carried out. Herniation of the dural sac along with its contents through the bony defect in the greater sphenoid wing was identified lateral to the V2 nerve passing through the foramen rotundum. The dural defect was repaired. Bony defect was covered with a circular titanium plate. The patient did not have cerebrospinal fluid rhinorrhea postoperatively. At 6-month follow-up, she was asymptomatic. |
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Electroclinical findings of SYNJ1 epileptic encephalopathy |
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Debopam Samanta, Kapil Arya DOI:10.4103/jpn.JPN_10_19 Introduction: Early-onset epileptic encephalopathies are among the most severe early-onset epilepsies, leading to progressive neurodegeneration. An increasing number of novel genetic causes continue to be uncovered as the primary etiology. Results: We report a girl infant of Semitic (Saudi Arabian) descent who presented with multifocal seizures and later developed intractable infantile spasms and myoclonic seizures. Her clinical features and electroencephalography were consistent with early-onset epileptic encephalopathy. Whole exome sequence analysis showed homozygous novel pathogenic variant (variant p.Q287PfsX27; coding DNA c.858_862delACAAA) in the SYNJ1 gene. Conclusion: This is a newly described early-onset epileptic encephalopathy secondary to a critical reduction of the dual phosphatase activity of SYNJ. Clinical features include early-onset intractable focal, myoclonic seizures, infantile spasms, and hypotonia progressing to spastic quadriparesis, opisthotonus, dystonia, profound developmental delay, and a progressive neurodegenerative course. Brain magnetic resonance imaging is usually normal. Electroencephalography shows diffuse slowing with multifocal epileptiform discharges or modified hypsarrhythmia. These findings further expand the clinical spectrum of synaptic dysregulation in patients with severe epilepsy and emphasize the importance of this biological pathway in seizure pathophysiology. |
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Acute hydrocephalus in a case of mumps meningoencephalitis: A rare occurrence |
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Anish Mehta, Rohan Mahale, Kiran Khanapure, Anirudh T Jagannatha, Purushottam Acharya, Rangasetty Srinivasa DOI:10.4103/jpn.JPN_58_19 Mumps is an acute viral illness, which presents with glandular and/or nervous system involvement. The most common central nervous system manifestations of mumps include aseptic meningitis and meningoencephalitis. Mumps meningoencephalitis, which is characterized by fever, vomiting, nuchal rigidity, and altered sensorium, usually develops at least 3–10 days after mumps parotitis. Acute hydrocephalus secondary to mumps meningoencephalitis is rare. Here we report a child who developed acute hydrocephalus following mumps meningoencephalitis and who was treated with external ventricular drainage following which he showed exceptional recovery. |
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Multiple tubercular brain abscesses with obstructive hydrocephalus in an immunocompetent child: A case report |
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Ipsita K Sahoo, Amit K Satapathy, Joseph John DOI:10.4103/jpn.JPN_76_19 Tubercular brain abscesses are rare manifestations in children, and very few cases have been reported till date. It is characterized by an encapsulated collection of pus, containing viable tubercular bacilli. Antitubercular treatment (ATT) is the mainstay of treatment along with surgical drainage or aspiration or excision of the abscess. We hereby report a case of a 15-month-old child with multiple tubercular brain abscesses with obstructive hydrocephalus, managed with ATT and ventriculoperitoneal shunt. |
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A case of split notochord syndrome with left congenital diaphragmatic hernia: A rare association |
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Pradyumna Pan DOI:10.4103/jpn.JPN_85_19 Split notochord syndrome is a rare neural tube malformation involving the brain, spinal cord, and vertebral column. In nearly half of the cases, the malformation also involves the gastrointestinal tract in the form of a dorsal neurenteric fistula and imperforate anus. In the literature, less than 50 cases have been reported. To the best of my knowledge, this is the first reported case associated with a left congenital diaphragmatic hernia. |
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Myelopathy in two brothers with respiratory chain disorder–severe complex 1 deficiency with atlantoaxial dislocation and long spinal arachnoid cyst: A new unreported association |
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Sadanandavalli Retnaswami Chandra, Hansashree Padmanabha, Manisha Gupta, Nupur Pruthi, Gayathri Narayanappa, Rita Christopher DOI:10.4103/jpn.JPN_94_19 Billion of years ago bacteria is believed to have entered a eukaryotic cell and converted to mitochondria. The respiratory chain present in it supplies ATP to all cells and therefore the diseases can have any phenotype. Diagnosis may be difficult to confirm by the conventional methods including genetics. Two brothers born to consanguineous parents had global delay, mild visual impairment and drooping of eyelids since birth in the elder child and dysmorphism in the second one. Both had progressive myelopathy due to retroflexed odontoid ,large arachnoid cyst and tethered cord. Muscle biopsy with special stain was normal but respiratory chain assay revealed severe complex 1 deficiency.Elder child underwent surgical decompression of the arachnoid cyst with duroplasty with significant improvement.Atlanto axial dislocation and large arachnoid cyst as cause of myelopathy is not reported in literature in patients with respiratory chain disorders to the best of our knowledge. |
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Reports of a conus cauda tumor with holocord syrinx in an adolescent girl |
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Smriti Sinha, Prathibha Shankar Ashwini, Pelala Nayan Baba, Rathika Damodar Shenoy DOI:10.4103/jpn.JPN_96_19 Introduction: Spinal cord ependymoma seldom presents with holocord syringomyelia in pediatric age-group. Association of ependymoma with a lipoma is also rare. The child presented critically ill with polymicrobial pneumonia, and the neurologic findings were missed until recovery. We report a case highlighting these findings. Case Report: A 16-year-old adolescent presented critically ill with respiratory failure due to severe pneumonia. Evaluation showed fungal pneumonia with secondary bacterial infection. On recovery, she had nasal regurgitation and required nasogastric tube feeding. Examination showed palatal and left vocal cord palsy. Neuroimaging of brain showed conus cauda tumor with syringobulbia and holocord multiseptate syrinx extending from medulla to filum terminale with lipoma. Histopathology examination showed myxopapillary ependymoma. She improved with excision and postoperative radiotherapy. Discussion: Our case is a rare report of an adolescent girl with conus cauda tumor and holocord syrinx. |
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A case of deep cerebral venous thrombosis presenting like acute necrotizing encephalopathy |
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Sachin Dangi, Namita Gwasikoti DOI:10.4103/jpn.JPN_117_19 Acute necrotizing encephalopathy (ANEC) is a rapidly progressive neurologic disorder that occurs in children after common viral infections such as influenza A and herpes simplex virus. It is observed more commonly in Asian countries. Magnetic resonance imaging findings in ANEC include symmetrical brain lesions, preferentially affecting the thalamus bilaterally. However, similar neuroimaging findings are also observed in deep cerebral vein thrombosis, which can lead to misdiagnosis. We report a case of 2½-year-old child who presented like acute necrotizing encephalopathy but on further investigations was found to be having deep cerebral vein thrombosis. |
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An unusual presentation of Menkes disease masquerading as a leukodystrophy with macrocephaly |
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Anshula Tayal, Aman Elwadhi, Suvasini Sharma, Bijoy Patra DOI:10.4103/jpn.JPN_141_18 Background: Menkes disease is an X-linked neurodegenerative disease caused by mutation in ATP7A gene, which codes for copper-transporting ATPase. It usually presents in early infancy with neuro-regression, hypotonia, seizures, and kinky hair. Magnetic resonance imaging (MRI) of the brain shows cerebral atrophy, subdural effusions, and tortuous cerebral blood vessels. Case Characteristics: We report the case of a 7-month-old boy who presented with global developmental delay, seizures, and increasing head size since 2 months of age and history of sibling death. He had macrocephaly, sparse, hypopigmented hair, seborrheic dermatitis of scalp, hypotonia, and brisk reflexes. Brain MRI was suggestive of megalencephalic leukodystrophy. Careful reexamination of films revealed tortuous blood vessels. Serum copper and ceruloplasmin levels were significantly reduced, leading to diagnosis of Menkes disease. Conclusion: This case exemplifies a rare presentation of Menkes disease, simulating a leukodystrophy with macrocephaly. Tortuosity of cerebral blood vessels is an important finding, which can help in differentiating Menkes disease from white matter disorders. |
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Miller Fisher variant of Guillain–Barré syndrome in a child |
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Sushant S Mane, Umesh Nagesh, Vaijinath T Sathe, Jyothi Janadhanan DOI:10.4103/jpn.JPN_146_18 Miller Fisher syndrome (MFS), a rare form of Guillain–Barré Syndrome, presents with the classical triad of ophthalmoplegia, areflexia, and ataxia. We describe the case of a 7-year-old boy who presented with diplopia, speech difficulty, dysphagia, gait disturbance, and difficulty in eyeball movements since 5 days. On examination, the child was having ataxia, areflexia, ophthalmoplegia, drooling of saliva, dysphonia, and absent gag reflex. MFS and brain stem encephalitis were kept as the differential diagnoses. The patient improved gradually over 3 weeks, following a treatment with intravenous immunoglobulin. |
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NEUROIMAGING |
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Black holes in the brain and spine: A dark disease |
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Bhanudeep Singanamalla, Sumeet Dhawan, Arushi Gahlot Saini, Paramjeet Singh, Naveen Sankhyan DOI:10.4103/jpn.JPN_110_19 A 7-year-old girl presented with difficulty in walking and bilateral vision impairment since past 15 days. On examination, she had disc pallor, flaccid paraparesis with positive Babinski sign, and reduced sensations below clavicle. She was diagnosed as anti-aquaporin-4 (AQP-4)-positive neuromyelitis optica. This article emphasizes the importance of recognizing its classical neuroimaging findings distinct from other disorders. |
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LETTERS TO EDITOR |
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Prevalence of unrecognized autism spectrum disorders in epilepsy: A clinic-based study |
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Mahmood D Al-Mendalawi DOI:10.4103/jpn.JPN_138_18 |
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Hereditary chin trembling |
p. 66 |
Sedat Isikay DOI:10.4103/jpn.JPN_140_18 |
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Coexistence of type 1 diabetes mellitus and periventricular heterotopia in a child: A case report |
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Faruk Incecik, Fatih Gürbüz DOI:10.4103/jpn.JPN_153_18 |
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