Introduction: Childhood epilepsy is a generalized epilepsy syndrome with a favorable response to antiepileptic drugs; however, a small percentage of typical absence seizures remain refractory to drugs. We studied the safety and efficacy of amantadine in children with refractory absence seizures. Materials and Methods: Of 48 children with typical absence seizures attending the outpatient department of a tertiary care neurological center over a period of 3 years from July 2013 to June 2016, 4 children who were refractory to standard treatment for at least 1 year were selected and were started on amantadine 4–6mg/kg/day, after obtaining informed consent. Observations: The children, aged between 7 and 14 years, had more than 10 episodes of seizures per day in spite of polytherapy with valproate, lamotrigine, clonazepam, levetiracetam, and topiramate in various combinations. Electrographically, all showed the typical generalized 3 Hz spike wave discharges activated by hyperventilation. All the children became seizure free within 1 week after starting amantadine, and there was improvement in their school performance. The children continue to remain seizure free for 6–30 months now. No significant adverse effects were observed on addition of amantadine. Discussion: Amantadine can be tried as a safe add-on drug for children with absence epilepsy refractory to multiple drugs. Further multicenter trials may be needed to prove its effectiveness, as the numbers are small.

Background: The epidemiologic data on demographic features of early-onset multiple sclerosis (EOMS) are rare in the Middle East, and no previous study has explored it. We aim to perform a neuroepidemiologic analysis to emphasize on the demographic features of EOMS in Tehran, Iran, during 2005–2015. Materials and Methods: Our study was performed in Tehran, Iran; the research included patients with EOMS who had experienced their first symptoms before the age of 18 years and those who were referred to Iranian Multiple Sclerosis Society in Tehran during 2005–2015. A total of 300 patients were contacted and filled the checklists by themselves or the physician. The checklist contained data about gender, age at the onset, the first symptom, time interval between the first presentation and the diagnosis, clinical course, family history of MS, and history of smoking in parents. Results: Among the patients with EOMS, 78% were female and 22% were male. Average age of disease onset was 15.6 years (standard deviation, 2.6 years), mean time interval between the first symptoms and disease diagnosis was 16.8 months, the shortest time interval measured was 0.1 month, and the longest time interval was 144 months. The first symptom at the onset of the disease was ocular in 140 patients and sensory in 82 patients. Approximately 16.7% of the patients had a positive family history for MS. The most common clinical course of disease was relapsing-remitting MS (RRMS). Parental smoking history was negative in 63.3% of the patients. Conclusion: In our study, the EOMS was higher in females. Despite the earlier studies, it was found that the polysymptomatic onset was not very common. Optic neuritis was the most initial presentation and RRMS was the most frequent course.

Background: Premature newborn infants are exposed to a wide spectrum of brain lesions which are clinically silent supporting a possible role of cerebral ultrasound screening. Aim of the study is to describe the pattern of cranial ultrasound abnormalities in preterm infants defining the short term and long term neurologic outcomes. Material and Methods: A hospital-based bedside cranial ultrasound was carried out at day 1, 3, 7 and follow-up scan at 3-6 months in the Department of Radio-diagnosis. Results: One hundred infants were included. The different abnormalities detected in cranial ultrasound of premature newborn infants include hydrocephalus in 12%, intracranial hemorrhage in 6%, brain edema in 6%, periventricular leukomalacia in 2%, choroid plexus cyst in 1%, intraventricular septa in 1% and colocephaly in 1%. Conclusion: Gestational age, newborn birth weight and neurologic symptoms were the most important risk factors for detecting brain lesions. The main purpose of cranial ultrasound was the demonstration or exclusion of an intracranial hemorrhage in a preterm neonate.

Background: The current prognosis of medulloblastoma in children is better because of technological advancements and improvements in treatment strategies and genetic investigations. However, there is a lack of studies that focus on medulloblastoma in Thailand. The aims of our study were to conduct a survival analysis and to identify the prognostic factors of pediatric medulloblastoma. Materials and Methods: Fifty-five children, with medulloblastoma, were eligible for analysis between 1991 and 2015. We retrospectively reviewed both the clinical and the histological data. Survival curves were constructed using the Kaplan–Meier method. For comparisons of dichotomous factors, between groups, the log-rank test was used to determine survival. The Cox proportional hazard regression model was used to identify the univariate and multivariate survival predictors. Results: The mortality rate was 49.1% in this study. The median follow-up time was 68.8 months (range: 1–294 months). The 5-year overall survival rate and median survival time were 53.8% (95% CI 38.7–66.7) and 80 months (95% CI 23–230), respectively. Univariate analysis revealed children <3 years of age, hemispheric tumor location, high risk according to risk stratification, and patients who did not receive radiation therapy affected the prognosis. In multivariable analysis, hemispheric tumors (hazard ratio [HR] 2.54 [95% CI 1.11–5.80]; P = 0.01)and high risk groups (HR 3.86 [95% CI 1.28–11.60]; P = 0.01) influenced death. Finally, using conditional inference trees, the study showed that hemispheric tumor locations are truly aggressive in behavior, whereas risk stratification is associated with the prognosis of midline tumors. Conclusions: Hemispheric medulloblastoma and high-risk groups according to risk stratification were associated with poor prognosis.

Objectives: To compare the efficacy of IV phenytoin and IV levetiracetam in acute seizures. Design: Randomized controlled trial. Setting: Tertiary care hospital, November 2012 to April 2014. Patients: 100 children aged 3–12 yrs of age presenting with acute seizures. Intervention: Participants randomly received either IV phenytoin 20mg/kg (n = 50) or IV levetiracetam 30mg/kg (n = 50). Patients who were had seizures at presentation received IV diazepam prior to these drugs. Outcome Measures: Primary: Absence of seizure activity within next 24 hrs. Secondary: Stopping of clinical seizure activity within 20 mins of first intervention, change in cardiorespiratory parameters, and achievement of therapeutic drug levels. Results: Two groups were comparable in patient characteristics and seizure type (P > 0.05). Of the 100 children, 3 in levetiracetam and 2 in phenytoin group had a repeat seizure in 24 hrs, efficacy was comparable (94% vs 96%, P > 0.05). Of these, 18 (36%) in phenytoin and 12 (24%) in levetiracetam group received diazepam. Sedation time was 178.80±97.534 mins in phenytoin and 145.50±105.208 mins in levetiracetam group (P = 0.346). Changes in cardiorespiratory parameters were similar in both groups except a lower diastolic blood pressure with phenytoin (P = 0.023). Therapeutic drug levels were achieved in 38 (76%) children both at 4 and 24 hrs with phenytoin, compared to 50 (100%) and 48 (98%) at 1 and 24 hrs with levetiracetam (P < 0.05). Conclusion: Intravenous levetiracetam and phenytoin have similar efficacy in preventing seizure recurrences for 24 hrs in children 3–12 years presenting with acute seizures.

Background: The peak incidence of traumatic brain injury (TBI) has been reported in children and young adults. Intracranial pressure (ICP) as an important component can be measured with invasive technique, whereas noninvasive measurement of optic nerve sheath diameter (ONSD) is increasingly becoming popular. Positive end-expiratory pressure (PEEP) has been found to affect ICP. We aimed to compare the effect of different values of PEEP on ONSD and to obtain the correlation with ICP measurement. Setting and Design: Neurointensive Care Unit, Trauma Center, AIIMS, New Delhi. Materials and Methods: Pediatric patients with TBI, of either gender, between 1 and 18 years of age in whom ICP was measured using intraparenchymal Codman catheter admitted in neurointensive care unit were enrolled. For this crossover study, the sequence of PEEP (0 or 3 or 5cm H₂O) was randomized and ONSD was measured. The mean of three ONSD values was taken as final value. Statistical Method: The ONSD, ICP, peak airway pressure, and hemodynamic parameters at various stages were compared using two-way repeated measures analysis of variance with Bonferroni correction. A P value of <0.05 was considered to be significant. Results: Ten patients (seven males, three females) participated in the study. There was no significant increase in ONSD values when PEEP was increased from 0 to 3cm H₂O. However, increase in PEEP values from 3 to 5cm H₂O showed significantly increased ONSD values. Conclusion: PEEP up to 3cm H₂O can be safely applied in pediatric patients following TBI. Further increment of PEEP might accentuate the ICP values.

Background: Craniosynostosis (CS) conditions are included with the premature fusion of one or more multiple cranial sutures. As the second leading and most common craniofacial anomaly and orofacial clefts globally. Syndromic and nonsyndromic CS (NSCS) occur as a part of a genetic syndrome unlike Apert, Crouzon, Pfeiffer, Muenke, and Saethre–Chotzen syndromes. Approximately, 90% of the cases of CS arises from NSCS group and it is now a great challenge for the researcher and neurosurgeon for Indian-origin children, a great burden worldwide. Material and Methods: Study design: Prospective study of analysis sequence pattern on CS and NSCS from January 2007 to 2018 was carried out. Inclusion criteria: Diagnosed cases in syndromic and NSCS patients between 3 months and 14 years of age either preoperative or postoperative were included in the study of both groups (syndromic and NSCS). Exclusion criteria: Patients with primary microcephaly (secondary CS), postural plagiocephaly, incomplete data, no visual perception, and who were lost to follow-up, and who had no interest to participate the study were excluded from the study. Bioinformatic analysis: We have performed systematic bioinformatic analysis for all responsible genes by combining with using through the GeneDecks, Gene Runner, DAVID, and STRING databases. Genes testing: FGF family genes, MSX genes, such as Irf6, TP63, Dlx2, Dlx5, Pax3, Pax9, Bmp4, Tgf-beta2, and Tgf-beta3 were found to be involved in Cleft lip and cleft palate (CL/P), and Fgfr2, Fgfr1, Fgfr3, and TWIST, MSX, MSX1, 2 were found to be involved in both the groups of CS (SCS + NSCS). Results: FGFR, MSX, Irf6, TP63, Dlx2, Dlx5, Pax3, Pax9, Bmp4, Tgf-beta2, and Tgf-beta3 demonstrated and find out that in CL/P, and Fgfr2, Fgfr1, Fgfr3, and Twist1 had accurate sequence data with more than accuracy of 95% reported with proper order with additional anomalies CS through newly developed tools. Conclusion: Newly developed techniques of GeneDecks, Gene Runner, DAVID, and STRING databases gave better picture to analyze the larger population, patients (SCS + NSCS) with complex genetic, maternal, parental age, environmental, and stochastic factors contributing to NSCS networking, signaling, and pathways involvement. This bioinformatic tools analyzed better prediction of CS and NSCS sequences guiding us the newer invention modalities of pattern of screening and further development of recent future application.

Aim: To study the clinical outcome of shunt surgeries in children with hydrocephalus and evaluate the risk factors for ventriculoperitoneal (VP) shunt failure. Materials and Methods: Patients who underwent VP shunt surgery for hydrocephalus were included. Medical charts, operative reports, imaging studies, and clinical follow-up evaluations were reviewed and analyzed retrospectively. Results: A total of 137 patients with the average age of 20.7 months, range from 1.5 months to 8.5 years at the time of VP shunt surgery were included. The incidence of overall shunt complications was 35.76%; incidence of shunt revision was 27%, shunt blockade 45.94%, shunt infection 16.21%, shunt migration 10.81%, and shunt malfunction due to abdominal pseudocyst 10.81%. The mortality rate was 5.10%. The shunt revisions in the first 6 months after shunt placement was observed in n = 9 (24%). Hydrocephalus was associated with post-tubercular meningitis and intraventricular hemorrhage (IVH) in shunt placement was associated with multiple shunt revisions (n = 13, 35.13%) (n = 5, 45.4%), respectively. Conclusion: The findings of this study indicate that etiology of hydrocephalus, were associated with the shunt survival. Further prospective controlled studies are required to address the observed associations

Introduction: The frequency and distribution of dystrophin gene deletions vary in patients with Duchene/Becker muscular dystrophy (DMD/BMD). Objective: In this study, we aimed to analyze clinical, biochemical, and dystrophin gene deletion pattern, by using multiplex polymerase chain reaction (PCR) in the population of eastern Uttar Pradesh and the adjoining districts of Bihar and Madhya Pradesh. Material and Method: After clinical assessment, 225 patients of DMD/BMD were analyzed for deletion in dystrophin gene. Clinical features and biochemical parameters were noted. For genetic study, all samples were tested for deletion from 25 exons of DMD gene by using multiplex PCR. Result: Deletions were detected in 169 (75.1%) patients of DMD/BMD. Deletions were observed in both proximal and mid-distal hot spot regions with maximum deletion localized in the mid-distal hot spot region of the gene. The most frequent deletions were observed in exon 50 (14.9%) and exon 49 (10.8%). Conclusion: This study concludes that mid-distal region of dystrophin is highly polymorphic in the population of eastern Uttar Pradesh and responsible for pathogenesis of DMD. The population of eastern Uttar Pradesh shows similar pattern of deletion in dystrophin gene when compared with other ethnic groups of the Indian population.

Background: Ventriculoperitoneal (VP) shunting is the most common neurosurgical treatment for hydrocephalus. In spite of significant developments in the technology and design of shunt systems, shunt surgery is still associated with morbidity. Aim: To identify the problems faced by children on VP shunt and assess their quality of life (QOL). Setting and Design: A cross-sectional exploratory study. Materials and Methods: A total of 31 children on VP shunt were selected through consecutive sampling technique, and hydrocephalus outcome questionnaire was used to collect the data, with the converted metric score ranging from 0 to 1. Hydrocephalus due to stroke, hemorrhage, and malignant tumors was excluded. Results: The mean age of patients was 11.51±4.26 years. Headache and generalized pain were the common problems experienced (42%). The mean score of QOL was 0.67±0.21. Among the three domains, cognitive domain was the most affected. Among the clinicoradiological factors, multiple surgeries (P = 0.02) had the most significant impact on QOL. Conclusion: Children who underwent VP shunt face various health-related problems in different domains and low QOL. Although cognitive domain was the most affected, multiple surgeries had the most significant impact on QOL. Appropriately focused interventions and holistic management are essential to improve the QOL of children undergoing VP shunt.

Tuberous sclerosis complex (TSC) is a neurodevelopmental disorder characterized by dermatologic manifestations and growth of multiple benign tumors often involving the brain, skin, kidneys, heart, lungs, and liver. It exhibits wide phenotypic variation, ranging from the most severe cases with intellectual disability and intractable epilepsy to the mildest, clinically silent forms of the disease. The incidence of TSC is reported to be 1/6000; however, this does not account for those with milder forms of the disease, of which forme fruste is the mildest. Forme fruste is a French term for a “crude or unfinished form.” In medicine, it refers to an atypical or attenuated manifestation of a clinical condition and implies an incomplete, partial, or an aborted disease state. Here, we describe a rare case of forme fruste TSC incidentally diagnosed in an otherwise healthy child, highlighting the implications of the diagnosis for treatment and screening in similarly affected pediatric patients.

Atlantoaxial dislocation (AAD) occurs secondary to joint laxity between C1 and C2 vertebrae, resulting in loss of normal articulation and movement. Etiology of AAD could be genetic, inflammatory, or rarely traumatic. Majority of children with AAD are syndromic (such as Down syndrome) or genetic (such as Ehler–Danlos syndrome or Marfan syndrome). To the best of literature search, there were no reports of AAD among children with congenital hypothyroidism. This case highlights an uncommon association of AAD presenting with features of compressive myelopathy in a child with congenital hypothyroidism. Early detection and neurosurgical intervention could possibly avert this irreversible neurological damage.

Down syndrome (DS), resulting from trisomy 21, is a common cause of mental retardation. Around 20,000 babies with DS are born every year in India. There is an increased risk of cerebral infarction in children with DS, the common causes being thromboembolism secondary to atrioventricular canal defects, right-to-left shunting, myocardial dysmotility, or cardiac valvular abnormalities. Stroke due to other causes can also occur in patients with DS, and one of these is moyamoya disease. This can be diagnosed by magnetic resonance imaging and/or angiography in these patients. Here we report four cases of moyamoya disease in young patients with DS aged 2–3½ years, of a total of 500 cases with DS registered in the Genetic Clinic.

Leigh syndrome (LS) is a progressive neurodegenerative disease caused by either mitochondrial or nuclear DNA mutations resulting in dysfunctional mitochondrial energy metabolism. The onset of clinical features is typically between 3 and 12 months of age; however, a later onset has been described in a few patients. Complex I deficiency is reported to be the most common cause of mitochondrial disorders. We described a patient with a late-onset LS, who presented with gait ataxia, caused by complex I deficiency (NDUFV1 gene).

Orbital lymphangioma is an infrequent benign cystic lesion manifesting in childhood and presenting with slowly progressive proptosis, and restriction of eye movements. Here we report a rare case of 8 year old male patient presenting with unilateral painful proptosis and subconjunctival hemorrhage with decrease of vision and restriction of eye movements. CT scan and MRI were done which revealed an intraorbital and intraconal cystic space occupying lesion. Fronto-orbito zygomatic craniotomy was done for orbital decompression and subtotal excision of tumor and blood evacuation. Histopathological findings were suggestive of lymphangioma.

Spinal arachnoid cyst (SAC) constitutes about less than 1% of all spinal tumors. It commonly occurs in third to fifth decades of life and mostly located in the thoracic region. Sacral extradural arachnoid cyst in the pediatric age group is an extremely rare location of occurrence. A such rare case of extradural arvwachnoid cyst of the sacral region, who presented with urinary incontinence is reported. The patient was managed surgically with laminectomy at S1–S3 vertebral level and complete excision of the extradural sacral arachnoid cyst with closure of transdural communication. The patient tolerated surgical procedure very well with regained bladder sphincter control at 6 months of follow-up. Early diagnosis and surgery are recommended for the treatment of symptomatic pediatric sacral arachnoid cysts.

Split cord malformation (SCM) with simultaneous ventral and dorsal bony spur at a single site is an extremely rare entity with only one other case reported so far. We present a second such case in a 13-month-old female child, who presented with a skin dimple over the lumbar region with overlying hairy patch without any associated lower limb weakness or urinary complaints. Imaging demonstrated a complex Type I SCM with simultaneous ventral and dorsal bony spur at L4-L5 level. Intraoperatively, the patient was confirmed to have a Type Ic SCM with a ventrally based bony spur going dorsally to attach on the hypertrophied posterior arch of L4 and a dorsal spur going ventrally to attach on the L4 vertebral body. After meticulous microsurgical excision of the spur, the child was stable and developed no fresh neurological deficits. We discuss the relevant surgical implications and possible embryological mechanisms involved in such a complex SCM.

Hypokalemic periodic paralysis is a genetic neuromuscular disorder characterized by episodes of painless muscle paralysis associated with low serum potassium, exclusively, during the attack. This may be precipitated by heavy exercise, fasting, or high-carbohydrate meals. We report two siblings, presenting at different ages with varying symptomatology—older sibling with episodic weakness in the morning associated with reduced physical exercise and consumption of large carbohydrate meal, whereas younger sibling complained of muscle stiffness following large carbohydrate meal and at the end of physical exercise. Molecular genetic study showed both siblings and their father were positive for calcium channel alpha-1S subunit (CACNA1S) C3716G>A; p.Arg1239His mutation. It is important to check serum potassium in a child presenting with muscle stiffness or weakness after a carbohydrate meal or vigorous exercise. This condition responds with potassium supplement. Often relevant family history and trigger factors with clinical correlation and blood results can lead to its diagnosis.

Topiramate is a potent antiepileptic drug with multiple modes of action including inhibition of carbonic anhydrase activity. Inhibition of this enzyme predisposes to non-anion gap metabolic acidosis which has been amply described in the literature. However, the severity is yet to be well defined. We encountered a case of topiramate-induced non-anion gap metabolic acidosis associated with hemodynamic perturbations in an 8-year-old child in the postoperative period.

An 8-year-old girl was admitted during the night in our emergency department for an acute episode of seizures. The patient underwent computed-tomography (CT) brain scan (Toshiba ® Aquilion 64-TSX-101A/HC) and magnetic resonance imaging (MRI) brain scan (Philips® Achieva 1.5T). CT scan showed left frontal calcified nodules and calcified periventricular subependymal nodules. Subsequently, MRI evaluation revealed cortical and subcortical nodules that showed low signal with respect to the white matter on T1-weighted imaging sequences and high signal both in T2-weighted imaging sequences and in fluid-attenuated inversion recovery sequences. We also showed a herniation of cerebellar tonsils through the foramen magnum (Chiari malformation Type I [CMI]) with the associated hydrosyringomyelic cavity. Our report showed a rare association between tuberous sclerosis complex and CMI.

Pediatric head injuries are a commonly seen emergency in trauma centers worldwide. There are various modes of injury such as fall from height, road traffic accidents, objects hitting the head, assault, and battered baby. We report here a child who presented to us with a history of sustaining head injury by a stray bull on the road and a retained broken bull horn inside the brain and its subsequent management.

Glioblastoma multiforme (GBM) is the most aggressive intracranial tumor and diffusely infiltrates the surrounding brain tissue. Despite their malignant nature, extraneural metastases from glioblastomas are rare with an estimated incidence of <2%. We present a case of a 9-year-old boy with exophytic brainstem GBM who developed cervical node metastases. He had undergone gross total excision of GBM in January 2017. Histopathological examination confirmed the diagnosis of glioblastoma multiforme. The patient underwent chemotherapy and radiotherapy as per hospital protocol. He developed hydrocephalus after 3 months, which required ventriculoperitoneal shunt. Two more months later, he developed drowsiness and was found to have shunt dysfunction causing hydrocephalus and multiple enlarged cervical lymph nodes. Cerebrospinal fluid diversion and neck node biopsy were performed for the patient but he died. The histopathological examination of the neck node biopsy revealed metastases from glioblastoma. We report this case to create awareness regarding possibility of extraneural metastases even in pediatric brainstem glioblastoma.

Tuberculous meningitis rarely causes refractory epilepsy and is a rare cause of West syndrome. We describe three infants, who had tuberculous meningitis complicated by stroke and paradoxical tuberculoma, and, who later developed West syndrome.

Human tail might be the most interesting cutaneous sign of neural tube defects. From little cutaneous appendixes to 20-cm-long taillike lesions were reported in the literature. They may occur connected to an underlying pathology such as lipoma or teratoma, but most of the time, they conceal an underlying spinal dysraphism. Many classifications about human tails have been suggested in history, but the main approach to these lesions is, independent of the classification, always the same: investigating the possible spinal dysraphism with concomitant pathologies and planning the treatment on the patient basis.

Seckel syndrome and Moyamoya diseases are different entities that rarely associated with each other. Several cases presenting with both these diseases were reported. Intracerebral artery aneurysms and collateral vessels can be seen with Moyamoya. They are commonly treated with medical treatment. We present a 12-years old patient with both Seckel syndrome and Moyamoya disease presented with middle cerebral artery aneurysm which was treated with endovascular modalities.

Cerebrospinal fluid (CSF) ascites is a rare complication of ventriculoperitoneal shunt, where CSF accumulates in the peritoneal cavity as a result of defective absorption. Alternate CSF diversion procedure such as ventriculoatrial (VA) shunt is another way of managing this complication. Although there are reports published on this condition, the scientific literature hardly discussed the anesthetic management in such scenario. Here, we describe such a case with particular attention to perioperative management during VA shunt insertion for CSF ascites.

Teratomas are germ cell tumors commonly composed of cell types derived from all of the three germ layers. Intracerebral teratomas typically present in midline or paraxial lesions located in the pituitary stalk or the pineal region. Teratoma in posterior fossa is a rare entity. We reported a case of midline posterior fossa mature teratoma in a 3-month-old child.

Inflammatory myofibroblastic tumor (IMT) of the central nervous system is a rare entity of unknown etiology and a diagnostic dilemma for radiologists. We report a case of meningeal IMT occurring in a 15-year-old boy. Magnetic resonance imaging showed a large homogeneously enhancing extra-axial mass in left parietal region. Mass was resected en bloc and histopathological examination revealed the lesion to be composed of plasma cells, lymphocytes admixed with histiocytes, and spindle cells without any atypical cells, characteristic of IMT. This case emphasizes the need to consider IMT in the differential diagnosis of tumorlike intracranial meningeal lesions.

Lipidization of the low-grade astrocytic tumor is a very rare phenomenon. We report a case of pilocytic astrocytoma with adipocytic differentiation involving the left cerebellar hemisphere and pontis in an 11-year-old boy. Till date, very few such cases have been reported in children. A young boy presented with a clinical picture suggestive of cerebellar dysfunction since 7 months. Imaging revealed a mass lesion involving the left cerebellar hemisphere measuring 4.5×4.1cm. Subtotal excision of the tumor was carried out. Microscopic features were typical of pilocytic astrocytoma but with extensive lipidization of tumor cells. Immunohistochemically, the tumor cells were immunoreactive to glial fibrillary acidic protein, S-100, and immunonegative to p53 and isocitrate dehydrogenase 1. Ki-67 labeling index was 1%. The patient had an uneventful postoperative period and is doing well on follow-up. An extensive review of prior work was carried out to elucidate the clinicopathologic significance of this entity, if any, with special reference to the pediatric age group.

The occurrence of multiple neural tube defects in a single patient is rare; the cases reported in the past are mostly of thoracic and lumbosacral region. Double occipital encephaloceles are rare; only four cases have been reported till date. Here we report a case of double encephalocele—one in the vertex and the other in the occiput, and a literature study on similar reports.

A 7-day-old baby boy born by lower segment caesarean section as term appropriate for gestational age was admitted with the complaint of fever, lethargy, and refusal to feed. The baby was put on antibiotic treatment for sepsis and meningitis. On the 15th day of the treatment, he developed lower motor neuron paralysis of both lower limbs along with sensory deficit. He also had bladder and fecal incontinence. Magnetic resonance imaging of spine showed spinal epidural lipomatosis extending from T8 to L5 with maximum compression of theca at L3-L4 level.

Incontinentia pigmenti (IP) is a rare X-linked multisystem disease caused because of mutation in the IKBKG (inhibitor of kappa-B kinase gamma, previously NEMO) gene. Involvement of central nervous system is seen in approximately one-third of these patients. Ischemic strokes, symptomatic seizures, and encephalopathy can be seen during neonatal or early infancy age group. Typically, early bilateral brain involvement is seen with periventricular white matter injury, hemorrhagic infarction, and multifocal cortical injury. We reported a patient who did not have early encephalopathic presentation, but presented with right hemiparesis and intellectual impairment. Magnetic resonance imaging of the brain revealed extensive left cerebral white matter volume loss and encephalomalacia with Wallerian degeneration of the left cortical spinal tract. This case highlights a rare presentation of unilateral cerebral atrophy with no definite episode of acute encephalopathy during infancy to suggest pure intrauterine injury. Microvascular occlusion, inflammatory cerebral vasculopathy, and recurrent silent strokes possibly produced this extensive neurologic manifestation antenatally. We also reviewed the complex pathogenic mechanisms involved in IP.

Drug-resistant epileptic encephalopathy such as Dravet syndrome presents with autistic symptoms. Three cases with autism spectrum disorder with comorbid Dravet syndrome were assessed. All the cases presented with onset of seizures before a year and with autistic features. The patients responded to a combination of antiepileptic drugs (AEDs), resulting in reduced frequency of seizures and behavioral issues. Contrary to the belief that both epilepsy and use of AEDs have adverse impact on the cognition of children with an early onset of epilepsy, we found improvement in the symptoms of our patients who presented with autism and epilepsy. Primary treatment approaches such as occupational therapy, special education, speech therapy, and behavioral therapy; effective diagnosis of comorbidities such as epilepsy; and aggressive treatment might help with behavioral improvement. Early diagnosis followed by treatment with AEDs can improve seizures, electroencephalography abnormalities, and behavioral problems.

Citrullinemia type 1 (CTLN1) is a rare inherited urea cycle disorder, which resulted from the deficiency of argininosuccinate synthetase enzyme. We presented an infant who was hospitalized because of acute losses of tonus and cyanotic hypoventilation attacks lasting approximately 4–5min. The physical and neurological examinations were normal. Ammonia level was in the normal range. Citrulline levels increased in both blood and urine. The blood sample was sent to mutation analysis, which showed one novel and one known mutation on ASS1 gene sequencing: a heterozygous novel mutation p.A94V (c.281C>T) and a heterozygous mutation p.W179R (c.535C>T). Urea cycle disorders should be considered in the differential diagnosis of unexplained brief apnea or hypoventilation attacks, even though those symptoms do not lead to hyperammonemia during infancy and childhood as seen in our patient. This is the first case in terms of atypical clinical presentation with a new mutation for CTLN1.

Extent of resection is a very important prognostic marker in adult and pediatric brain tumors. Therefore, radical resections confer an oncological benefit. Resection of intra-axial tumors in proximity to eloquent regions requires intraoperative mapping and monitoring. Continuous subcortical mapping using a suction monopolar device has been recently described for adult tumors. This allows a real-time dynamic mapping of the advancing resection cavity walls, synchronized with the surgeon’s actions during resection. We describe the application of this technique in a child who presented with a rapidly increasing right parietal mass. It was resected using this dynamic mapping technique. This is the first such report of its use in a pediatric brain tumor. We also review the relevant literature briefly.