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   Table of Contents - Current issue
Coverpage
January-March 2021
Volume 16 | Issue 1
Page Nos. 1-86

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REVIEW ARTICLE  

Remission of pediatric diffuse intrinsic pontine glioma: Case report and review of the literature p. 1
Vera Espirito Santo, Joao Passos, Hipolito Nzwalo, Sofia Nunes, Duarte Salgado
DOI:10.4103/jpn.JPN_85_20  
Background: Diffuse midline glioma (DMG) is one of the most aggressive pediatric tumors. Approximately 60% of pediatric DMG patients die within the first year of diagnosis. Complete clinical and radiological remission of DMG is extremely rare. The objective of this study was to describe a case of remission of pediatric DMG and to compare with similar cases published so far. Results: DMG was diagnosed in a 2-year-old girl who presented with brainstem and increased intracranial pressure manifestations. Ventriculoperitoneal shunt and chemotherapy-based treatment were offered. From the diagnosis, in spite of progressive enlargement of the tumoral lesion, her clinical condition improved remarkably. After the end of chemotherapy, progressive and gradual imagiological improvements occurred. At the end of the 60th month of follow-up, she was asymptomatic with total remission. Six pediatric DMG cases, from birth to the age of 3, in whom remission occurred were found in the literature. Histology sample was available in two of them (fibrillary astrocytoma—WHO Grade II and anaplastic astrocytoma—WHO Grade III). None received chemotherapy or radiotherapy. Conclusion: Remission of pediatric DMG is extremely rare and reinforces the biological heterogeneity of the tumor. In the absence of reliable predictors of prognosis, offering the best supportive treatment, including neurosurgical interventions should be considered in similar cases.
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ORIGINAL ARTICLES Top

Open neural tube defects in COVID-19 pandemic: An analysis of 26 neonatal patients in a tertiary care center p. 5
Dattatraya Muzumdar, Akshay Hawaldar, Sagar Bhambhere, Malwinder Singh, Aditya Lunawat, Ruchi Nanavati
DOI:10.4103/jpn.JPN_126_21  
Coronavirus disease-2019 (COVID-19) pandemic has severely affected and disrupted medical practice all over the world since December 2019 till date. This has affected the pediatric surgical practice in general and neurosurgical practice in particular. An analysis of 26 neonatal patients with open neural tube defects who underwent surgery in the neurosurgery department at the King Edward VII Memorial Hospital (KEM), Mumbai during the period of March 2020 till December 2020 is presented. The cumulative experience and challenges encountered in the comprehensive management of these cohort of patients in the difficult period of the pandemic is discussed in accordance with relevant literature on the subject.
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Study of Neurodevelopmental Outcome in Patients with Non-tumoral Hydrocephalus with Shunt Surgery Done in Infancy p. 11
Sandeep Garg, Shilpa Kulkarni, Chandrashekhar Eknath Deopujari, Naresh Biyani
DOI:10.4103/jpn.JPN_37_20  
Background: Hydrocephalus (HC) is a common neurological disorder presenting in infancy, with a myriad of etiologies requiring early neurosurgical intervention. Objective: To study neurodevelopmental outcome in patients with HC with shunt surgery done in infancy. Materials and Methods: This was an observational retrospective cohort study of 50 pediatric patients (2 years to 16 years of age). These patients were diagnosed with HC and were operated on with ventriculo-peritoneal shunt (VP shunt) insertion in infancy (did not include patients with brain tumors) and then later following in the neurology outpatient department (OPD). Clinical records and neurodevelopmental assessment (intelligence quotient [IQ]/development quotient [DQ] and vision and hearing assessment) were reviewed. Results: Only 50% of the patients with congenital HC were diagnosed at birth, which included patients who had been diagnosed antenatally and they had lesser complications and better intellectual outcome (P = 0.12), compared with those who presented later with HC. Patient-related factors such as etiology of HC, antenatal diagnosis, and requirement of shunt revisions had poor correlation with neurodevelopmental outcome. Patients with late postoperative complications had significantly poor neurodevelopmental outcome (P ≤ 0.001). Patients with post-meningitis HC required a significantly higher number of shunt revisions than patients with other causes (P = 0.04). Conclusion: Better neurodevelopmental outcome depends on early diagnosis and early referral for the management than the cause of HC. Regular head circumference monitoring is the most feasible and sensitive screening tool for early pickup. Larger studies are needed for accurate prognostication.
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Paroxysmal nonepileptic events in a pediatric epilepsy clinic p. 17
Ashfak H Mandli, Neelu A Desai, Rahul S Badheka, Vrajesh P Udani
DOI:10.4103/jpn.JPN_33_20  
Aims: We aimed to study the frequency, age, and gender distribution of paroxysmal nonepileptic events (PNEs) in children referred to epilepsy clinic with the diagnosis of epilepsy. We also evaluated the therapeutic implications of correct diagnosis and co-existence of true epilepsy in this population. Settings and Design: All new patients below 18 years attending the Pediatric epilepsy out-patient clinic of PD Hinduja hospital over 6 months were evaluated. Materials and Methods: Patients with history of paroxysmal events characterized by abrupt changes in consciousness or behavior or movement were included. They were assessed on description of events aided by recorded videos. If the diagnosis was not confirmed by this preliminary evaluation, further investigations were advised. Statistical Analysis Used: Chi-square/Fisher’s exact test was used to analyze differences between categorical variables and Kruskal–Wallis test between continuous variables. The data were analyzed by SAS University Edition. All significance tests were two-tailed with α <0.05. Results: Two hundred new patients presenting with paroxysmal events were enrolled over 6 months. After diagnoses, 19% of these children had PNEs, 80% had epileptic events, and 1% remained undiagnosed. Common nonepileptic events seen were physiological in patients below 5 years and psychogenic in older children. Thirty-four percent of patients with PNEs were on anti-epileptic drugs (AEDs). After confirming nonepileptic attacks, only 2.6% patients needed AEDs for coexisting epilepsy which was statistically significant (P < 0.001) change in treatment. Conclusions: Epilepsy mimics are common in children and are often misdiagnosed causing undue stress. Correct diagnosis leads to a drastic change in management like withdrawal of drugs, commencing new treatment if needed, and appropriate referrals.
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Surgical results of selective dorsal rhizotomy for the treatment of spastic cerebral palsy p. 24
Marcelo Volpon Santos, Vinicius M Carneiro, Patricia N B G C Oliveira, Carla A T Caldas, Helio R Machado
DOI:10.4103/jpn.JPN_26_20  
Background: Selective dorsal rhizotomy (SDR) is one of the surgical alternatives for treating spasticity, especially in children with spastic diplegia secondary to cerebral palsy (CP). It is becoming increasingly used, and the results of this operation need to be further highlighted. Aim: The main objective of this article was to present the results of such surgical procedure in a cohort of a specialized center, with a particular focus on a quantitative analysis (goniometry). Materials and Methods: Retrospective review of the medical records and gait analyses of a cohort of 34 patients diagnosed with CP submitted to elective SDR at our institution, in a period of 6 years, was carried out. All patients underwent a thorough clinical and neurological assessment, gait analysis at a dedicated laboratory, and magnetic resonance imaging of whole neuro-axis. Statistical Analysis: For continuous quantitative variables (goniometric angles and muscle tone), a t-student test was used. A scatterplot regression analysis was used for the comparison of modified Ashworth scale (mAS) scores and goniometry measurements. Results and Conclusion: In a mean follow-up of 3.2 years, SDR provides a measurable and consistent improvement in the motor function of spastic patients, as per range of motion and tonus scales, with low complication rates. It also allows for patients to reduce their use of muscle relaxants, even though their global mobility does not change significantly. Therefore, it should be considered for CP patients who suffer with the deleterious effects of spasticity.
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Necrotizing enterocolitis in neonates: Has the brain taken a hit 10 years later? p. 30
Ankita Mondal, Devesh Misra, Ahmed Al-Jabir, Dalal Hubail, Thomas Ward, Bijendra Patel
DOI:10.4103/jpn.JPN_41_20  
Background: The neonate with necrotizing enterocolitis (NEC) is at risk of developing poor neurodevelopmental outcomes. There is a dearth of long-term follow-up studies in this field, with a majority of studies reporting a follow-up duration of 2 years. The aim of this study was to assess neurodevelopment of babies diagnosed with NEC more than a decade ago. This study was carried out in a tertiary hospital with neonatal surgery and intensive care units. Materials and Methods: Retrospective review of notes and telephone interviews with parents of babies diagnosed with NEC between January 2007 and December 2008 was conducted. Evidence of motor, cognitive, and sensory impairment was recorded. Fisher’s exact, χ2, and unpaired t-tests were used. P-values <0.05 were considered significant. Results: Overall mortality in this cohort was 31%. Eighteen patients were followed up to an average age of 11.2 years. Of the 18 patients, 11 (61%) had a neurological impairment. Of the 15 surgically managed patients, 10 (67%) had an impairment and, of the 3 medically managed patients, 1 (33%) had an impairment. Cognitive impairment was the most common (10/18, 56%), followed by motor (6/18, 33%). Ten of 18 (56%) had special education needs, 9 of 18 (50%) had learning difficulties, 6 of 18 (33%) had speaking difficulties, and 4 of 18 (22%) had cerebral palsy. Patients also had behavioral conditions (3/18, 17%), visual impairment (2/18, 11%), and seizures (2/18, 11%). Conclusion: In the field of NEC, there is a hidden neurological burden that neonatal surgeons bequeath to the community. Sixty-one percent of patients are neurologically impaired, affecting the quality of life and function in the long-term. There should be appropriate parent counseling at the point of diagnosis and regular development checks for children with NEC.
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Pediatric skull base tumors: A management challenge p. 35
Matheus F M Ballestero, Stephanie N F de Souza, Romilto C Pacheco Neto, Guilherme G P Gondim, Elvis T Valera, Maristella B F dos Reis, Benedicto O Colli, Ricardo S de Oliveira
DOI:10.4103/jpn.JPN_56_20  
Context: Skull base tumors are varied in children and are particularly challenging to pediatric neurosurgeons, with few papers in the literature describing the evolution, complications, and outcome. The authors evaluated long-term outcomes in children submitted to skull base tumor surgery and performed a literature review. Aims: The aim of this study was to analyze surgical results, complications, and outcomes, on comparison with previous publications. Materials and Methods: A retrospective analysis of children undergoing surgery at a single institution between 2000 and 2018 for lesions of the cranial base was carried out. In addition, a literature review was carried out describing a total of 115 children operated on for skull base tumors. Statistical Analysis: Chi-squared and Fisher’s exact tests were performed to compare the distribution of categorical variables and a nonparametric Mann–Whitney U test was used to perform intergroup comparisons of continuous variables. Results: Seventeen children ranging in age from 8 months to 17 years (mean, 10.9 years) underwent skull base approaches. Tumor types included schwannoma, meningioma, chondroid chordoma, mature teratoma, epidermoid cyst, hemangiopericytoma, rhabdomyosarcoma, myofibroblastic inflammatory tumor, fibromyxoid sarcoma, Crooke’s cell adenoma, ossifying fibroma, osteoblastoma, nasopharyngeal angiofibroma and Ewing’s sarcoma. Gross total resection was achieved in 6 patients (35.3%), 12 patients (70.6%) had benign histology, and 5 patients (29.4%) had a malignant tumor. Transient postoperative cerebrospinal fluid leak affected only one patient. Thirteen children (76.4%) had a residual neurological deficit at last follow-up evaluation. Three (17.6%) surviving patients received adjuvant therapy. The rate of recurrence or lesion progression was 17.6%. Conclusions: Skull base tumors in children present a therapeutic challenge because of their unique pathological composition and can lead to considerable morbidity and mortality in pediatric age.
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Does socioeconomic status have an association with cranio-vertebral anomalies: A step toward healing the curse! p. 44
Ashish R Sharma, Arun Kumar Srivastava, Suyash Singh, Kuntal Kanti Das, Prabhakar Mishra, Kamlesh Singh Bhaisora, Jayesh Sardhara, Anant Mehrotra, Awadhesh K Jaiswal, Sanjay Behari
DOI:10.4103/jpn.JPN_49_20  
Background: The etiological or causal factors of pediatric craniovertebral junction anomalies (CVJA) are still unknown. The disease bears a major proportion of economic and social burdens over a developing country like ours. This article aims to highlight an important modifiable factor that may prove to have a critical causal relationship with disease incidence. Materials and Methods: This is a cross-sectional, single-institutional study, wherein the socioeconomic status (SES) of all the operated pediatric patients of CVJA, between 2014 and 2019, was studied. Variables including the patient’s age, sex, residence status (rural or urban), perioperative data, length of stay, follow-up, and the time between revision surgery (if required) and clinical presentation were noted. Data regarding average household and type of family (nuclear or joint) were also enquired. Results: Sixty-six patients (M:F 56:10) with a mean age of 13.14 ± 3.44 years were included. The mean annual family income was 11.1 ± 12.1 thousands. 43.9% belonged to joint family; according to Kuppuswami and Prasad scale, 42.4% of patients belong to lower class, while 20 patients belong to lower middle class, and 14 patients belong to the below poverty line category. Neither the SES of patient nor rural–urban background affected the surgical outcome. The mean follow-up of patients in our study was 42.3 ± 23.0 months and 83.3% had a good outcome. Discussion: Patients operated for CVJ anomaly in the authors’ institution mainly come from the lower socioeconomic groups. The present study raises several important questions like nutritional deficiencies in reproductive age group females leading to a cascade of events as a causal factor.
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CASE REPORTS Top

Cementifying fibroma of the sphenoid wing in a child: A case report p. 49
NK Venkataramana, Shailesh A V Rao, N Kirshna Chaitanya
DOI:10.4103/jpn.JPN_162_11  
“Cementifying fibroma” is a benign tumor of the fibroblastic tissue containing masses of cementum-like calcified tissue, usually occurring between the third and fourth decades. Cementifying-ossifying fibromas are rare non-odontogenic, fibro-osseous tumors of the periodontal ligament that arise from the mesodermal germ layer3. We report a 12-year-old male child, who presented with a swelling in the left temporal region near the angle of the left eye. These non-neoplastic, locally destructive tumors present as an osseous lesion involving the mandible, maxilla, zygoma, paranasal sinuses, orbit, and rarely the petromastoid regions. The preoperative diagnosis was not clear even with CT and MRI, and, hence, all fibro-osseous lesions were considered as differential diagnosis. The lesion was surgically resected completely, and the histology confirmed it as a cementifying fibroma. According to the WHO classification, this is a variant of cementifying fibromas, which represent a subgroup of cementomas, that is, fibro-osseous lesions containing cementum. Histologically, these are fibrous tissues with calcified structures resembling bone and cementum. Cranioplasty was done simultaneously, with successful clinical results.
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Carbamazepine-associated drug reaction with eosinophilia and systemic symptoms syndrome p. 55
Ankush Sharma, Ekta Joshi, Nitin Gupta, Monika Joshi
DOI:10.4103/jpn.JPN_126_15  
Drug reaction with eosinophilia and systemic symptoms syndrome is a severe type IV (delayed T-cell-dependent reaction) hypersensitivity reaction, characterized by fever, mucocutaneous eruptions, eosinophilia, and systemic inflammatory involvement. It usually begins a few weeks after the exposure to offending drug. Commonly implicated drugs are aromatic anticonvulsants (phenytoin, phenobarbitone, and carbamazepine) and sulfa drugs (sulfonamides, sulfasalazine, and dapsone). It is a potentially life-threatening hypersensitivity reaction. Here we report a case of drug reaction with eosinophilia and systemic symptoms syndrome associated with carbamazepine, which was successfully treated with intravenous methylprednisolone.
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Use of electroconvulsive therapy in an adolescent with mental retardation and catatonia p. 58
Aseem Mehra, Susanta Padhy
DOI:10.4103/jpn.JPN_112_18  
Despite the availability of electroconvulsive therapy (ECT) and being one of the safest modalities of treatment, the use of ECT is still underused in patients with mental retardation with catatonia. However, the available limited literature suggests that ECT can be used safely with proper monitoring and assessment, especially in those presenting with catatonia in mental retardation. We treated a 17-year-old boy who presented to us with catatonia with mental retardation with a course of 12 ECT, with which the catatonia resolved completely. Review of the literature suggests that the occurrence of catatonia is rare in mental retardation. However, ECT can be used in a rare case with precautions.
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Spontaneous spinal intramedullary hematoma in an infant: A rare entity and a diagnostic challenge p. 61
Vibhu Shankar Parashar, Priyanka Aswal, Tarun Kumar Gupta, Gaurav Jaiswal
DOI:10.4103/jpn.JPN_170_18  
Introduction: Spontaneous spinal intramedullary hematoma is a rare cause of acute paraplegia in adults and is extremely uncommon in children. Very few cases with no apparent etiology (such as trauma, vascular lesions) have been reported in adults. We did not find any apparent cause for the hematoma in our patient and to the best of our knowledge, this is first case reported in infants. Case Report: We present the case of a 6-month-old female child admitted with acute-onset paraplegia, bladder bowel involvement, and no history of trauma or bleeding diathesis. The MRI showed an intramedullary mass extending from the D11-L1 level. The mass was excised and histopathology revealed it to be an organizing hematoma. Conclusion: Our case highlights that though it is a rare entity, there is a need for more awareness when dealing with children with sudden paraplegia, acute retention of urine, or neurological deficit. Early diagnosis and prompt surgery are crucial to achieve the best neurological outcome.
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A rare cause of autistic regression in a boy with Down syndrome: Hashimoto encephalopathy Highly accessed article p. 65
Ayse Nurcan Cebeci, Feyza Kutlu, Baris Ekici
DOI:10.4103/jpn.JPN_170_19  
Background: Hashimoto encephalopathy (HE) is a rare condition associated with autoimmune thyroid disease. We aimed to report the youngest patient with Down syndrome and HE with an unusual presentation. Case Report: Six years and six months old boy with Down syndrome admitted due to loss of speech. His physical development was appropriate for his age and had no goiter. Neurological examination revealed the absence of eye contact and stereotypic movements. Autism spectrum disorder was considered based on his result on Gilliam autism evaluation scale. He had subclinical hypothyroidism with markedly elevated anti-thyroid peroxidase antibody level, rare spikes in the frontocentral area were found in electroencephalography, and cranial magnetic resonance imaging was normal. Neurologic improvement was observed to a treatment with glucocorticoid and thyroid hormone. Conclusion: HE might be considered in patients with Down syndrome along with progressive cognitive decline and autistic regression.
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Treatable cause of refractory seizures in an infant with a novel mutation p. 69
Ruchi R Mittal, Ranjith Kumar Manokaran, Saji James
DOI:10.4103/jpn.JPN_68_20  
Pyridoxine-dependent epilepsy is a treatable cause of epilepsy, which is very well known. It is most commonly caused by mutations in ALDH7A1 and PNPO genes. A 5-month-old infant presented with refractory seizures. Magnetic resonance imaging (MRI) brain was normal. Clinical exome sequencing showed a novel mutation in PROSC gene. He responded very well to pyridoxine and has been seizure free since the beginning of the treatment. PROSC gene mutations have been recently described as a cause for pyridoxine-dependent epilepsy. Here, we describe a first case report of PROSC mutation from India with a rare genetic variant presenting as pyridoxine-dependent epilepsy.
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Spastic paraplegia-56 due to a novel CYP2U1 truncating mutation in an Indian boy: A new report and literature review p. 71
Indar K Sharawat, Prateek Kumar Panda, Lesa Dawman
DOI:10.4103/jpn.JPN_86_20  
Spastic paraplegia-56 is a rare autosomal recessive disorder, caused by homozygous or compound heterozygous mutations in the CYP2U1 gene, located on chromosome 4. Till date, only 28 patients with this disorder have been reported in the literature. We report a new case of CYP2U1-related spastic paraplegia-56. We also reviewed previously published patients with this condition from various databases. Next-generation sequencing in the index child detected a novel homozygous two base pair deletion in exon 2 of the CYP2U1 gene that results in a frameshift and premature truncation of the protein 19 amino-acid downstream to codon 361. Together with the presented case, 29 were available for analysis. The mean age at the diagnosis was 17.84 ± 6.86 years. Intellectual disability/cognitive dysfunction and delayed walking or gait disturbance were the most common presenting features. Around half of the patients had neuroregression in between 1 and 2 years. It is clinically imperative to suspect this disease in children with early-onset spastic paraparesis, especially in cases accompanied by baseline development delay or cognitive impairment and consanguinity.
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Siblings with glutaric aciduria type 1 with atypical phenotype with novel pathogenic variant in GCDH gene p. 75
Vykuntaraju Kammasandra Gowda, Balamurugan Nagarajan, Varunvenkat M Srinivasan, Maya Bhat
DOI:10.4103/jpn.JPN_63_20  
Glutaric aciduria type 1 (GA1) is caused by a deficiency of the enzyme glutaryl CoA dehydrogenase. It generally presents with developmental delay, dystonia, and large head. We are reporting siblings of GA1, presenting with an atypical phenotype with novel pathogenic variant. Thirteen-year-old boy presented with global developmental delay and stiffness of limbs. Examination revealed normocephaly and generalized dystonia. MRI T2WI was suggestive of symmetrical posterior putaminal atrophy. Tandem mass spectroscopy (TMS) and urinary gas chromatography-mass spectrometry (GCMS) were normal. Genetic analysis revealed a novel pathogenic homozygous missense variant in GCDH gene. An 8-year-old girl younger sibling of above child also had developmental delay and dystonia, posterior putamen atrophy in the MRI of brain, and same pathogenic variant in GCDH gene. Parents screening showed heterozygous status in both parents of same pathogenic variant. Any child who presents with global developmental delay with dystonia even with normocephaly, isolated symmetrical posterior putamen changes, with normal TMS and GCMS, a possibility of glutaric aciduria type 1 has to be considered.
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Multidrug-resistant Elizabethkingia anophelis septicemia, meningitis, ventriculitis, and hydrocephalus in a preterm neonate: A rare complication of an emerging pathogen p. 79
Abhijit Goyal Honavar, Andrew David, Anushri Amladi, Leenath Thomas
DOI:10.4103/jpn.JPN_45_20  
Elizabethkingia anophelis is an emerging pathogen causing neonatal meningitis. Here, we describe the challenging course and necessity of a long 14-week duration of antibiotics in a 12-day-old male neonate with E. anophelis septicemia and meningitis. He developed ventriculitis and hydrocephalus, and needed a ventriculoperitoneal shunt. At 5-month follow-up he had developmental delay.
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NEUROIMAGING Top

A young child with recurrent episodes of headaches and vision loss: Diagnostic clues? p. 82
Prateek Kumar Panda, Indar Kumar Sharawat, Avinish Singh, Poonam Sherwani
DOI:10.4103/jpn.JPN_91_20  
MELAS is a mitochondrial cytopathy, with maternal inheritance and variable phenotype expression and severity depending on the degree of heteroplasmy. It presents with waxing and waning symptoms, in form of recurrent migrainous headache, transient loss of sight, hemianopsia, transient ischemic attack, or stroke-like episodes, focal seizures and even periods of altered sensorium. Here we present an 8-year-old boy presented with recurrent episodes of migrainous headache associated with vomiting sometimes and recurrent episodes of loss of vision for the past one year. As many of these episodes were precipitated by some febrile illness, so the child was suspected to have neurotuberculosis outside, because of Mantoux positivity. His mother also had similar episodes of recurrent headache and ultimately succumbed to cerebrovascular accident. Mitochondrial genome sequencing revealed heteroplasmic missense variation in the MT-TL1 gene (chrM:3243A>G).
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LETTER TO THE EDITOR Top

Venous air embolism during endoscopic transsphenoidal resection of pituitary tumor: Need to be cautious p. 85
Shalvi Mahajan, Sanjay Kumar, Hemant Bhagat, Rajeev Chauhan
DOI:10.4103/jpn.JPN_124_19  
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