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   Table of Contents - Current issue
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July-September 2018
Volume 13 | Issue 3
Page Nos. 289-372

Online since Friday, September 7, 2018

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REVIEW ARTICLES  

Posterior fossa acute extradural hematoma in children: Review and management guidelines Highly accessed article p. 289
Sil Kaushik, Chatterjee Sandip
DOI:10.4103/JPN.JPN_86_18  PMID:30271459
Posterior fossa acute extradural hematoma is a rare but potentially fatal disease in children. This article reviews the literature on this topic and offers an evidence based guideline for management of the same.
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Intraspinal anomalies in early onset scoliosis: Current concepts Highly accessed article p. 294
Manoj Singrakhia, Nikhil Malewar, Ajit Jangle
DOI:10.4103/JPN.JPN_100_17  PMID:30271460
Early onset scoliosis (EOS) is deformity of the spine below the age of 5 years. Children with EOS are at risk of impaired thoracic cage development and pulmonary maturation. Initial evaluation consists of determining the etiological cause for EOS, i.e., congenital, neurogenic, idiopathic, or syndromic. The advent of magnetic resonance imaging in recent times has lead to increased awareness of neurogenic causes leading to EOS. Evaluation of spinal cord anomalies in EOS is very important as early diagnosis and treatment can help in deformity stabilization and regression. Also, any surgical or nonsurgical intervention to correct the deformity without prior treatment of spinal cord anomalies can lead to disastrous neurological complications.
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ORIGINAL ARTICLES Top

Electroclinical pattern and epilepsy evolution in an infant with Miller–Dieker syndrome p. 302
Raffaele Falsaperla, Simona Domenica Marino, Silvia Marino, Piero Pavone
DOI:10.4103/JPN.JPN_182_17  PMID:30271461
Aim of the study: To evaluate the electroclinical course and the correlation Electroencephalographic (EEG) pattern and epileptic seizures in an infant with Miller Dieker Syndrome (MDS) during the first year of life. Materials and Methods: MDS was diagnosed in the infant soon after birth and followed up from six months of life to one year, at the Department of Pediatrics, General Pediatric Operative Unit, Policlinico Vittorio Emanuele, University Hospital, XCatania, Italy, with clinical and serial EEG recording. Results: Aside from severe delay in the developmental milestone, the onset of the seizures was first noticed by the parents at the age of 4 months as brief slow tonic movements; at 6 months as tonic movements of the upper limbs with a slow rotations of the trunk, i.e. “subtle spams”; and at 7 months as typical “infantile spams” and tonic seizures. The EEG recording registered pattern of modified hypsarrhythmia (MH) correlated with “subtle spams” at the age of 6 months and at the age of 7 months the same EEG recording of MH associated to clinical expression of classical Infantile Spams (IS). Conclusions: In this infant, the EEG pattern and epileptic seizures were widely variable ranging clinically from brief anomalous movements to “subtle spams” and to typical infantile spams. At the same time, the EEG recording manifested first with MH and one month later with classical hypsarrhythmia. The EEG recording MH correlated first with clinical expression of subtle spams and the EEG remaining unchanged with the classical clinical expression of infantile spams.
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Prevalence of unrecognized autism spectrum disorders in epilepsy: A clinic-based study p. 308
Monica Juneja, Suchit Gupta, Abhinav Thakral
DOI:10.4103/JPN.JPN_136_17  PMID:30271462
Objective: To assess prevalence of unrecognized autism spectrum disorders (ASDs) in children with epilepsy using Diagnostic and Statistical Manual IV (DSM-IV) criteria and to evaluate factors affecting it in this population. It was a cross-sectional study conducted at a teaching hospital. It included randomly selected 106 children in the age 4–12 years with epilepsy, and without any structural anomaly identifiable on computed tomography/magnetic resonance imaging. Children already diagnosed with ASD were excluded. Materials and Methods: Detailed clinical evaluation was carried out. Intelligence quotient (IQ) was assessed using Development Profile-II for all and Binet and Kulshrestha test, wherever possible. Participants were screened using Social Communication Questionnaire (SCQ). Those with SCQ score of ≥15 were evaluated for ASD using DSM-IV criteria. Childhood Autism Rating Scale was administered to assess the severity of autism. Data were analyzed with univariate and logistic regression analyses. Results: A total of nine children were screened positive, of them, eight were diagnosed with ASD using DSM-IV criteria. The prevalence of unrecognized ASD was 7.5/100. On univariate analysis, intellectual disability (P < 0.01) and young age of onset of epilepsy (P = 0.03) were significantly associated with ASD. On multivariable analysis, only intellectual disability was significantly associated with ASD (P < 0.01). There was no significant association with gender, seizure type, frequency of seizures, intractability of epilepsy, or the number of antiepileptic drugs used. Conclusion: ASDs are more prevalent in children with epilepsy than in general population. In cases with associated intellectual disability, co-occurrence of ASD is further increased. All children with epilepsy, particularly those with IQ ≤ 50, irrespective of age of onset of epilepsy, seizure type, frequency of seizures, or intractability of epilepsy, should be screened for ASD.
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Prospective study of diphtheria for neurological complications p. 313
Prem L Prasad, Preeti L Rai
DOI:10.4103/JPN.JPN_130_17  PMID:30271463
Aim: To study the spectrum of neurological complications of diphtheria, timing of onset with respect to respiratory disease, and pattern of recovery. Settings and Design: Prospective, observational, hospital-based study conducted in tertiary care hospital. Materials and Methods: Twenty-eight cases of diphtheria with neurological complications were admitted during the period of study. Demographic profile, age, gender, status of immunization, past history stressing on the severity of the respiratory disease, and complaints regarding diverse complications of diphtheria were recorded. Detailed clinical and central nervous system examinations along with relevant investigations were carried out. Results: Children were in the age group of 3–18 years. All 28 children presented with bulbar symptoms. Isolated palatal palsy was present in 18 children (64%). Third cranial involvement was present in four children. Three children had unilateral lower motor neuron facial palsy and one child had sixth cranial nerve palsy. Nine children developed symmetric limb weakness. Diaphragmatic palsy was present in three children with the onset from 1–3 weeks after pharyngeal diphtheria. Loss of vasomotor tone was present in two children. Recovery was complete` in all 28 children. Conclusion: Pediatricians/neurophysicians should have a high index of suspicion to recognize diphtheritic polyneuropathy. It carries good prognosis, hence timely diagnosis and differentiation from other neuropathies is a prerequisite for rational management and contact tracing.
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Abnormal migration and extrusion of abdominal end of ventriculoperitoneal shunt: An experience of eight cases p. 317
Ashish Chugh, Sarang Gotecha, Gaurav Amle, Anil Patil, Prashant Punia, Megha Kotecha
DOI:10.4103/JPN.JPN_18_18  PMID:30271464
Background: Ventriculoperitoneal (VP) shunt is commonly used in the treatment of hydrocephalus. Migration and extrusion of the distal end of the VP shunt are relatively rarely occurring complications. Aim: To retrospectively analyze patients with extrusion of the abdominal end of ventriculoperitoneal shunts and evaluate the possible etiology and outcome. Settings and Design: All patients presenting with extrusion of lower end of the shunt were included. The variables collected were age, sex, site of extrusion, time duration of extrusion, presence of local infection, meningitis, shunt dependency, and treatment received. Contrast-enhanced computed tomography of brain was carried out in all patients to rule out retrograde migration of infection in the cranial cavity. Materials and Methods: Eight patients of abnormal migration and extrusion of lower end of VP shunt were included. Results: The distal end of VP shunt was extruded from the anus (n = 3), vagina (n = 2), and anterior abdominal wall (n = 3). In five of these patients, shunt catheter was draining cerebrospinal fluid (CSF), the children were afebrile and CSF was sterile. In three children with extrusion of the shunt through the abdominal wall, the shunt tract was infected. Two of these patients had abscess in the shunt tract, which required incision and drainage. Both these patients had meningitis with a growth of Streptococcus species from CSF. Seven patients required further CSF diversion such as endoscopic third ventriculostomy (n = 3) or placement of VP shunt (n = 4). Conclusion: Distal tip migration of VP shunt may prove to have potentially serious complications such as meningitis. A prompt and aggressive protocol of management is recommended.
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Outcome of Ventriculosubgaleal shunt in the management of infectious and non-infectious Hydrocephalus in pre-term infants p. 322
Raja K Kutty, Sunilkumar B Sreemathyamma, Paresh Korde, Rajmohan B Prabhakar, Anilkumar Peethambaran, Gnanaseelan K Libu
DOI:10.4103/JPN.JPN_41_18  PMID:30271465
Background: Hydrocephalus in premature infants is an onerous disease. In such situations, choosing the best option for cerebrospinal fluid (CSF) diversion is difficult. Ventriculosubgaleal shunt is an effective method of temporary CSF diversion in such situations. In this retrospective study, we compare the outcome of ventriculosubgaleal shunt in premature infants with hydrocephalus of infectious and noninfectious etiology. Materials and Methods: All premature children with hydrocephalus secondary to various etiologies who underwent ventriculosubgaleal shunt were studied. The participants were grouped into two depending upon the etiology of hydrocephalus: Group 1 (infectious) and Group 2 (non-infectious). The primary outcome was a successful conversion to ventriculoperitoneal shunt (VPS) and the secondary outcome was mortality. Data were entered into statistical software SPSS version 16 and appropriate statistical analysis was performed to conclude any statistical significance between groups. Results: The study included 16 infants among whom 9 were in the infectious group and 7 in the non-infectious group. Primary end point of conversion to VPS was achieved in 55.5% of patients in group 1 and 85.7% in group 2. The secondary end point, i.e., mortality was observed in 44.4% of patients in group 1 and 14.2% in group 2. The average duration during which this was achieved was 40 days (range 20–60 days) in group 1 and 25 days (range 20–30 days) in group 2. Conclusion: Ventriculosubgaleal shunt is a safe and effective procedure in infants awaiting definitive VPS for hydrocephalus of infectious as well as noninfectious origin. There was no statistical difference in the rate of successful conversion to a permanent VPS from ventriculosubgaleal shunt in hydrocephalus of either etiologies. Complications and time for successful conversion were more in postmeningitic hydrocephalus.
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NEUROIMAGINGS Top

Spontaneous pneumocephalus secondary to leaking myelomeningocele p. 329
Raja Krishnan Kutty, Sunilkumar B Sreemathyamma, Jyothish Laila Sivanandapanicker, Anilkumar Peethambaran
DOI:10.4103/JPN.JPN_17_18  PMID:30271466
Myelomeningocele is one among the most common forms of spinal dysraphism. We report a newborn male child with leaking myelomeningocele who presented with apneic spells. He underwent a magnetic resonance imaging of the neuraxis, which revealed Chiari malformation and severe hydromyelia along with pneumocephalus. He was planned to undergo urgent repair of the neural tube defect but his parents were not willing for surgery. We report this case as spontaneous pneumocephalus secondary to open neural tube defect, which is very rare and sparsely reported.
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Neurocutaneous melanosis with bilateral temporal lobe lesions without leptomeningeal enhancement: A distinct entity or subtype p. 331
Sanjay Kumar, Subir Dey, Yayati Pimpalwar, Akhilesh Rao
DOI:10.4103/JPN.JPN_53_18  PMID:30271467
Neurocutaneous melanosis (NCM) is a rare congenital disorder. Most of the cases described in literature for this entity have involvement of the leptomeninges and other structures of brain such as brain stem, temporal lobes, and spinal meninges and no involvement of leptomeninges and presence of lesions in bilateral temporal lobes. NCM without the involvement of leptomeninges should be considered a distinct entity as the prognosis is favorable as compared to cases with leptomeningeal involvement who develop early hydrocephalus and multiple cranial nerve palsies.
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CASE REPORTS Top

Cornelia de Lange syndrome: A case series from a resource-limited country p. 334
Indar K Sharawat, Lesa Dawman
DOI:10.4103/JPN.JPN_25_18  PMID:30271468
Cornelia de Lange syndrome is a rare genetic condition with developmental disorder and malformation affecting multiple systems. To describe the clinical and laboratory details and outcome of the children diagnosed with Cornelia de Lange syndrome, we retrospectively studied six cases who presented to our hospital between the years 2013 and 2015. Almost all had developmental retardation, with recurrent respiratory tract infections, and feeding difficulties. Synophrys with long curly eyelashes with low anterior and posterior hairline was present in all the children. Cornelia de Lange syndrome is a multisystem developmental disorder requiring interdisciplinary management. Symptomatic treatment generally given as therapy is very difficult. Early diagnosis and prompt management of associated disorder are useful for effective outcome of the disease.
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New onset persistent refractory hypertension after medulloblastoma excision in children—an indicator of poor prognosis: A case series p. 337
Barkha Bindu, Ranadhir Mitra, Gyaninder P Singh, Manoj Phalak
DOI:10.4103/JPN.JPN_127_17  PMID:30271469
Hypertension in the clinical setting of posterior fossa tumors is a known entity and occurs due to medullary compression by the tumor. Such hypertension usually responds to tumor excision. Postoperative hypertension occurring after posterior fossa tumor excision has been attributed to brain stem edema in a single report earlier, which resolved without any intervention. Here, we report two pediatric patients who developed new onset refractory, persistent postoperative hypertension after medulloblastoma excision, and discuss possible causes and the prognostic significance of this condition.
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A rare cause of refractory epilepsy: Posterior periventricular nodular heterotopia p. 340
Meltem C Direk, Mustafa Komur, Anıl Ozgur, Cetin Okuyaz
DOI:10.4103/JPN.JPN_178_17  PMID:30271470
A 15-year-old male patient presented to our outpatient clinic with drug-resistant seizures. Magnetic resonance imaging of the brain showed bilateral posterior nodular heterotopia and left cerebellar dysgenesis. The patient was diagnosed with cortical developmental malformation and medically refractory epilepsy. The filamin A gene mutation was negative. Posterior periventricular nodular heterotopia is a rarer and a more different entity from classical periventricular nodular heterotopia with no gender difference and negative filamin A gene mutation. There is a limited number of case studies on posterior periventricular heterotopia. Therefore, this patient was presented to emphasize that epilepsy may be more refractory to treatment, and central congenital abnormalities including posterior fossa abnormalities are more frequent in patients with posterior periventricular nodular heterotopia.
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Pyogenic meningitis complicated with extensive central nervous system vasculitis and moyamoya vasculopathy p. 343
Sumeet R Dhawan, Jitendra K Sahu, Sameer Vyas, Sunit C Singhi, Pratibha D Singhi
DOI:10.4103/JPN.JPN_125_17  PMID:30271471
Meningitis is an uncommon complications of head trauma. Vasculitis in bacterial meningitis is seen in 9%–25% of adults. Neurological deficits in bacterial meningitis are seen in about one-third of children. Isolated cranial nerve palsies are common, whereas major deficits such as hemiparesis and quadriparesis are rare. We describe a case of a 7-year-old boy who had post-traumatic meningitis complicated with quadriparesis and severe vasculitis of bilateral anterior and posterior circulation with moyamoya vasculopathy.
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Extensive Mongolian spots in a hypotonic infant with GM1 gangliosidosis p. 346
Suprabhat Ranjan, Pratap K Patra
DOI:10.4103/JPN.JPN_180_17  PMID:30271472
Mongolian spots (MS), also known as dermal melanocytosis, are the most frequently seen birthmarks and generally present as large, blue or blue-black macules or patches, mostly limited to the lumbosacral region. They are considered as a benign manifestation; however, extensive MS can be a manifestation of certain underlying inborn errors of metabolism including GM1 gangliosidosis.
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Glutaric aciduria type 1 with microcephaly: Masquerading as spastic cerebral palsy p. 349
Indar K Sharawat, Lesa Dawman
DOI:10.4103/JPN.JPN_79_17  PMID:30271473
Glutaric aciduria type 1 (GA-1) is an autosomal-recessive disorder caused by the deficiency of the mitochondrial enzyme glutaryl-CoA dehydrogenase. A 13-month-old boy presented with microcephaly, developmental delay, and progressive spasticity and was being treated as spastic cerebral palsy, later on had loss of developmental milestones after acute episode of illness at 12 months of age. The magnetic resonance imaging of brain revealed widened Sylvian fissure, hyperintensities in bilateral globus pallidus, and bilateral frontoparietal atrophy along with white matter loss. The urine examination by gas chromatography–mass spectroscopy revealed a marked excretion of glutaric acid and 3-hydroxyglutaric acid. The diagnosis of GA-1 was confirmed on the basis of characteristic neuroimaging, biochemical, and mutation studies. There are rare reports in the literature about association of GA-1 with microcephaly. The child was started on trihexyphenidyl, l-carnitine, and high-dose riboflavin, and dietary therapy in the form of low-protein diet was advised.
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Spontaneous asymptomatic migration of ventriculoperitoneal shunt into thoracic cavity: A case report with review of literature p. 352
Hinglaj Saha, Shib Shankar Burman, Kaushik Saha, Dipak Ghosh
DOI:10.4103/JPN.JPN_27_18  PMID:30271474
Intrathoracic migration of ventriculoperitoneal shunt is a rare complication and usually complicated with pneumonia or cerebrospinal fluid hydrothorax, which leads to diagnosis and early interventions. Very rarely patient remains asymptomatic. Here is a case report of a 6-year-old boy with a rare asymptomatic intrathoracic migration of ventriculoperitoneal shunt.
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Autosomal-recessive spastic ataxia of Charlevoix-Saguenay: A Turkish child p. 355
Faruk Incecik, Ozlem M Hergüner, Atil Bisgin
DOI:10.4103/JPN.JPN_8_18  PMID:30271475
Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations of the SACS gene, characterized by late-infantile-onset spastic ataxia and other neurological features. ARSACS has a high prevalence in northeastern Quebec, Canada. Recently, several ARSACS cases have been reported from outside Canada. We report typical clinical and neuroimaging features in a Turkish child, which confirmed genetic diagnosis of ARSACS.
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Rare and treatable cause of early-onset refractory absence seizures p. 358
Gajanan A Panandikar, Sangeeta H Ravat, Rahil R Ansari, Karan M Desai
DOI:10.4103/JPN.JPN_146_17  PMID:30271476
Glut-1 transporter deficiency syndrome (GLUT1-DS) is a rare disorder caused by the mutation in SLC2A1 gene, which results in impaired glucose transport into the brain. It has a broad spectrum of phenotypic presentation ranging from cognitive decline, microcephaly, and refractory seizures to complex movement disorder. Recognition of this disorder is necessary as it is refractory to antiepileptic drugs (AEDs) and responds significantly to ketogenic diet. We report a case of 7-year-old girl who presented with paroxysmal eye movements in infancy with early-onset absence epilepsy (EOAE), which worsened in early morning and on fasting and was found to be refractory to four AEDs. She had mild developmental delay and subtle ataxia. Cerebrospinal fluid showed hypoglycorrhachia, and molecular analysis identified deletion in exon 4 of SLC2A1 gene (p.leu169del), thus confirming GLUT1-DS. She had a near-complete seizure control on ketogenic diet. Thus, GLUT1-DS should be suspected in all cases of refractory generalized seizures specially EOAE, especially if it worsens on fasting, is associated with development delay, positive family history, or paroxysmal movement disorder.
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Lipid storage myopathy with ketonuria: A case of fatty acid oxidation–related myopathy and encephalopathy due to multiple acyl-CoA dehydrogenase deficiency p. 362
Sadanandavalli R Chandra, Rita Christopher, Gayathri Narayanappa, Nitin C Ramanujam, Pavan Katragadda, Akshata Huddar, Shreyashi Jha
DOI:10.4103/JPN.JPN_21_18  PMID:30271477
Encephalopathy and Myopathy in children of varying ages can be due to variety of causes including Mitochondrial diseases, metabolic diseases like renal tubular acidosis, storage diseases as well as fatty acid oxidation (FAO) disorders. FAO related disorders have variable clinical presentation and manifest in different ages. They may present with hypoglycemia, effort intolerance, multi organ involvement with or without ketonuria. High degree of suspicion and appropriate investigations are mandatory for diagnosis. Here we describe an 11 Year old boy, born to non – consanguineous parents. Presented with exertion induced muscle pain and fatigue of 1year duration, which slowly progressed to severe weakness and vomiting. His reflexes were retained. Therefore metabolic vs inflammatory muscle diseases were considered. Patient had ketonuria with elevated blood levels of medium chain acyl carnitine and long chain acyl carnitine suggestive of MADD. Urine organic acid assessment showed elevated excretion of 2-hydroxyglutarate (2HG), adipate and arabitol. Muscle biopsy showed multiple fine vacuoles on Eosin- hematoxylin stained preparation. Modified Gomori - trichrome stain showed vacuolated fibers with red granular material consistent with ragged red fibers. Oil Red O stains showed vacuolated fibers with ‘oil red O’ positive material suggesting lipid storage. Above combination of features is consistent of MADD. Genetic evaluation is not done due to financial constraint. Patient was started on high dose riboflavin and carnitine, with which the child became near normal. Our patient is a case of MADD presenting as Reye’s syndrome like features and showed excellent response to riboflavin, carnitine, dietary and life style changes. High degree of suspicion is lifesaving.
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Primary pediatric intracranial neuroblastoma: A report of two cases p. 366
Ajit Mishra, Manish Beniwal, Bevinahalli N Nandeesh, Dwarakanath Srinivas, Sampath Somanna
DOI:10.4103/JPN.JPN_68_18  PMID:30271478
Neuroblastoma is the most common pediatric extracranial solid malignancy. It has a high propensity for spread, especially to the bones and lymph nodes. The involvement of central nervous system is uncommon and most of the cases are restricted to the spine. Primary intracranial neuroblastoma is extremely rare and very few cases have been described in the available literature. We report two cases of primary intracranial neuroblastoma in pediatric age group.
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LETTER TO EDITOR Top

Urethral protrusion of the distal end of shunt p. 371
Shailendra D Anjankar
DOI:10.4103/JPN.JPN_54_18  PMID:30271479
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