Nutritional deficiencies related neurological manifestations are not uncommon in infants and children. Here, we describe an infant with Vitamin B12 deficiency due to depleted maternal Vitamin B12 status presenting with progressive encephalopathy and extrapyramidal signs. Diagnosis of infantile tremor syndrome was established in our patient based on the clinical and biochemical parameters. Magnetic resonance imaging had shown frontotemporal atrophy with widened Sylvian fissures and prominent cerebrospinal fluid spaces. Clinical and imaging findings might create a diagnostic dilemma with glutaric aciduria type I. Knowledge and identification of infantile tremor syndrome are essential, as it is a potentially treatable disorder. Our patient had significant developmental gains with Vitamin B12 treatment and infant stimulation program. Vitamin B12 deficiency must be looked for as a cause of neuroregression in children hailing from low socioeconomic status, infants of vegetarian mother, and infants with delayed or improper weaning. Screening for Vitamin B12 deficiency is essential in all infants and children with unexplained neuroregression, as this disorder is potentially treatable. More population-based studies in India are needed to explore the prevalence of Vitamin B12 deficiency in pregnant and lactating women and also to assess the need for Vitamin B12 supplementation during pregnancy and lactation.

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Aim: Cerebellar mutism (CM) syndrome is a well-known and annoying complication of posterior fossa surgery in the pediatric age group. Risk factors such as the type of tumor, size, involvement of posterior fossa structures and hydrocephalus, and postoperative cerebellar swelling for CM were investigated in this study. Materials and Methods: A consecutive series of 33 children with midline posterior fossa tumors were operated at the SMS Medical College and Hospital, Department of Neurosurgery, Jaipur India, between September 2015 and December 2016. Their speech and neuroradiological studies were systematically analyzed both preoperatively and postoperatively. Results: CM syndrome (CMS) developed in six children (18.18%) in the early postoperative period. The pre- and post-operative irritability, medulloblastoma histology, maximum size more than 45 mm, involvement of superior cerebellar peduncles, and vermian incision were significant single independent risk factors. In addition, male gender also associated with a higher risk for CMS. The latency for the development of mutism ranged from 1 to 12 days (mean 3.5 days). The speech returned to normal in all patients. All cases with CMS accompanied by cerebellar ataxia. Conclusion: The medulloblastoma, irritability, maximum size more than 45 mm, involvement of superior cerebellar peduncles, and vermian incision were significant single independent risk factors for postoperative pediatric CMS. Mutism after posterior fossa tumor resection is also accompanied with ataxia. CM usually has a self-limiting course and a favorable prognosis.

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The aim of this study is to compare the treatment effectiveness of botulinum toxin type A (BTX-A) and phenol blocks in the management of lower limb spasticity and to measure improvement in gross motor functional outcome in children with cerebral palsy (CP). This is a hospital-based prospective, noncontrolled randomized study that took place in a tertiary care center. A total of 61 ambulatory children with CP spastic diplegia, aged from 4 to 10 years, were randomly divided into two groups and included in this study. Twenty-eight children with CP received BTX-A injections and 33 received phenol motor point blocks. The measures performed were as follows: outcome assessment spasticity by the Modified Ashworth scale (MAS), active range of motion (AROM) of lower limb joint by goniometer, and functional improvement by Gross Motor Function Measures (GMFM). Postinjection follow-up done at 2, 6, 12, 24, and 48 weeks. Significant improvement in reduction of spasticity, increased AROM of all joints of lower limbs, and improvement in functional outcome were observed in CP with spastic diplegia after BTX-A injections as compared with the phenol motor point block group. There was no significant side effect after BTX-A injections as compared with phenol injections. BTX-A injections showed superior treatment effects in the reduction of spasticity and improvement in AROM and functional outcome measures with spastic diplegia as compared with phenol blocks. BTX-A injections also revealed fewer clinical side effects and were well tolerated by children with CP.

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It a challenging task for a Neuroanaesthetist to do the tight rope walking of maintaining the homeostasis of the small baby and at the same time complying with to the demands of the surgery and the surgeon. With the advancement of surgical techniques and availability of safer anaesthetic drugs and equipments it is possible to provide anaesthesia to even premature babies. This article gives a comprehensive review of the anatomical and physiological differences between the adult and the pediatric population and the anaesthetic implications of the various neurosurgical disorders.

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Menkes disease (MD) is a rare infantile onset neurodegenerative disorder due to mutations in the X linked ATP7A gene. These patients can present with failure to thrive, severe psychomotor retardation, seizures and hypopigmented hair, which is characteristic of this condition. A number of neuro-radiological findings have been reported in this condition. We report the spectrum of neuro-radiological findings in three affected boys being treated at our centre. We suggest that magnetic resonance imaging (MRI) and, in particular magnetic resonance angiography (MRA) when taken in the context of the clinical presentation may be helpful in making an early diagnosis of this devastating condition.

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Background: Moyamoya vasculopathy is a chronic progressive vaso-occlusive disease affecting the distal intracranial carotid arteries and their proximal branches. It is an important cause of recurrent strokes in children. Surgical revascularization procedures are now considered as the treatment option for moyamoya vasculopathy. The data from Indian children with moyamoya vasculopathy are limited to a very few studies. Study Design: We analyzed the records of children with moyamoya vasculopathy treated at our tertiary care center from 2000 to 2014. Our study population included all patients (aged 0–18 years) with moyamoya disease/ syndrome (MMD/MMS). The demographic data, clinical characteristics, imaging, treatment details, and surgical procedures performed were reviewed. Results: A total of 41 patients (females-19, males-22) were identified. Thirty-three (80.48%) had MMD and eight (19.5%) had MMS. The mean age (±standard deviation) at presentation was 6.26 ± 3.79 years (range: 6 months–14 years). Majority had ischemic events at onset; none had hemorrhagic manifestations. Twenty-eight (68.29%) patients underwent surgery (a total of 33 surgical procedures, bilateral in five and unilateral in 23) and 13 (31.7%) were managed conservatively. The median duration of follow-up was 2.2 ± 1.85 years (range: 4 months–7 years). Two/thirteen patients (15%), who were managed conservatively, had recurrent strokes as against none (0/28) in the operated patients. No mortality was observed in our cohort. Conclusion: We agree with previous studies that Indian patients with moyamoya vasculopathy differ from their Asian and European counterparts. The availability of expertise in revascularization surgeries in various centers should prompt surgery as an efficient and safe treatment option.

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Introduction: Traumatic brain injury (TBI) in children is a significant cause of morbidity and mortality worldwide. Falls are the most common type of injury, followed by motor vehicle-related accidents and child abuse. Aims and Objectives: The aim and objective of this study was to elucidate the various modes of injury, prognostic factors, complications, incidence of various modes of injury, and outcome in TBI in pediatric population. Materials and Methods: Patients with TBI, 18 years or less in age, managed in our Department of Neurosurgery, over a period of 2 years, were studied prospectively. Detailed history, general physical examination, systemic examination, and central nervous system examination including assessment of Glasgow Coma Scale score (GCS) and pupillary size and reaction were noted in every patient. Based on GCS, patients were divided into mild head injury (GCS 13–15), moderate head injury (GCS 9–12), and severe head injury (GCS ≤8) categories. All the patients were subjected to plain computed tomography (CT) scan head, and CT findings were noted. Patients were managed conservatively or surgically as per the standard indications. The outcome of all these patients was assessed by Glasgow outcome scale and divided into good (normal, moderate disability) and poor (severe, vegetative, dead) outcome. Outcome was assessed in relation to age, sex, GCS, pupil size and reaction, CT scan features, intervention, and associated injuries. Results: A total of 403 patients aged between 1 day and 18 years were included in the study comprising 252 males (63%) and 151 females (37.75%). The common modes of injury were fall 228 (56.6%) followed by road traffic accidents 138 (34.2%), assault 10 (2.5%), and others 27 (6.7%) which include sports injury, hit by some object on head, and firearm injury. Majority of our patients had a GCS of 13–15 (mild head injury), 229 (57.3%), followed by 9–12 (moderate head injury) 119 (29.8%), followed by 8 or less (severe head injury) 52 (13%). In group of patients in the category of GCS ≤ 8, poor outcome was seen in 65.3%, followed by patients in group GCS 9–12 at 2.45% succeeded by group of patients with GCS 13–15 at 2.6%, which was statistically significant (P < 0.0001). A total of 354 (87.8%) patients had normal pupils, 37 (9.2%) had anisocoria, and 12 (3%) patients had fixed dilated pupils. Fixed dilated pupil had poor outcome (100%) followed by anisocoria (40.5%) and normal pupils (16%), which was statistically significant (P < 0.0001). Conclusion: Majority of children who suffer from TBI do well although it still continues to be a significant cause of morbidity and mortality in them. The outcome is directly related to the neurological status in which they present to the hospital.

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Objectives: To determine the frequency and immediate outcome of acute neurologic complications (ANCs) in children undergoing congenital heart surgery (CHS). Materials and Methods: Inthis retrospective study, all patients undergoing CHS at our hospital from January 2007 to June 2016 were included. Patients were followed up for the development of seizures, altered level of consciousness (ALOC), abnormal movements, and stroke. Results are presented as mean with standard deviation and frequency with percentages. Results: Of 2000 patients who underwent CHS at our center during the study, 35 patients (1.75%) developed ANC. Seizures occurred in 28 (80%), ALOC in 5 (14%), clinical stroke in 2, brain death in 6 patients. Antiepileptic drugs (AEDs) were started in 32 patients, of which 13 patients required more than one AED. Mean length of stay was 10 ± 7.36 days. Of 35 patients who developed ANC, 7 expired during the study. Conclusion: Neurological complications are scarce but significant morbidity after CHS at our center.

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Accidental poisoning with Abrus precatorius (AP) can rarely produce neurological complication due to its toxic principle “Abrin”. The authors report such a case in a 2-year old child, who subsequently developed central pontine myelinolysis, an association, to the best of the author’s knowledge, has never been reported in literature.

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Angelman syndrome (AS) is known as an intellectual disability related to speech impairment, ataxia and behavioral uniqueness, including a combination of frequent laughter and smiling, apparent happy demeanor, excitable personality and hypermotor behavior. In this report, we present a 5-year-old girl with AS associated with atypical clinical manifestations, including developmental dysplasia of the hip and simian line in the right hand, and her elder sister with AS. Even if any gene mutation cannot be demonstrated, it should be kept in mind that different mutations may exist in the cases that are the suggestive of clinical AS. Therefore, AS patients can be exposed to special education, and their quality of life can be elevated.

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Psammomatoid juvenile ossifying fibroma (PJOF), a variant of juvenile ossifying fibroma (JOF), is a locally aggressive neoplasm of the children and young adults. This entity has predilection for the sinonasal region. It forms a differential diagnosis for many bone neoplasms. We report three cases of PJOF, in young patients whose biopsy showed the presence of psammomatoid bodies in a cellular fibrous stroma. The diagnosis of JOF indicates requirement of extensive surgery due to its locally aggressive nature.

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Cerebral venous sinus thrombosis (CVST) is a critical condition with significant morbidity and mortality. It primarily affects the young and healthy. CVST presents a diagnostic challenge due to its varied presentation patterns. We report the case of a 11-year-old boy diagnosed with CVST after presenting with a long history of continuous headache. He improved following anticoagulation therapy. Despite thorough investigation, no discernible underlying cause could be identified.

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Susac’s syndrome (SS) is a triad of encephalopathy, branch retinal artery occlusion (BRAO), and sensorineural hearing loss as a result of microvascular occlusions of the brain, retina, and inner ear. It is also a disorder of autoimmune endotheliopathy. SS usually affects young women between the age of 20 and 40 years. SS can be misdiagnosed as multiple sclerosis (MS) or acute disseminated encephalomyelitis (ADEM) because of similar findings. A 15-year-old girl presented in June 2015 with vomiting and severe headache. Cerebral magnetic resonance imaging revealed multiple lesions in the corpus callosum. Cerebrospinal fluid findings gave normal results. The initial diagnosis was MS and steroid (1000mg/day) was given. She started to describe hallucinations and became paraplegic. She then underwent plasmapheresis five times without response. Her electroencephalogram was diffusely slow with 2–3 Hz delta rhythm at the frontal regions. Audiological examination showed that she had sensorineural hearing loss in her left ear. Ophthalmologic evaluation revealed BRAO in both eyes. On the basis of these findings, she was diagnosed with SS and treated with intravenous immunoglobulin (IVIG) and aspirin. After monthly treatment with IVIG for 6 months, the patient has almost fully recovered. SS should be kept in mind in the differential diagnosis of MS and ADEM.

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This report details two novel RAB3GAP1 mutations causing Warburg Micro syndrome, a rare autosomal recessive disorder characterized by multiple organ abnormalities involving the ocular, nervous, and endocrine systems. Two Italian sisters were referred to our department for the assessment of congenital bilateral cataracts. They also presented with microphthalmia, postnatal microcephaly, severe developmental delay, and hypotony. Perinatal investigations were negative for any toxins or infectious diseases during pregnancy, including toxoplasmosis, rubella, cytomegalovirus, and herpes virus. Genetic tests were performed on samples from probands and their parents, targeting a total of 114 genes. After sequence analysis of RAB3GAP1, two heterozygous changes were identified in both sisters: C.519G>A, p.(Trp173Ter) and c.2486T>A, p.(Leu829Ter). The identified mutations have not previously been described in the literature, but they affect critical regions of the gene, suggesting a legitimate causal relationship between the genetic alterations and the clinical features of the patients.

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Syringomyelia and scoliosis are not uncommon phenomena in the spectrum of Chiari malformations. However, the presence of holocord syrinx in association with Chiari 1 malformation is quite rare.

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Schwannoma originates from the myelin sheath of peripheral nerves. It accounts for about 8% of all intracranial tumors. Commonly, schwannoma is located in the extra-axial locations; intra-axial schwannomas are extremely uncommon. The schwannoma arising from fourth ventricle is extremely uncommon and authors in a detailed PubMed and MEDLINE search could find only seven cases reported in the literature in the form of isolated cases report, who were managed surgically, with only one being a pediatric case. Authors report second case of intra-fourth ventricular schwannoma occurring in the pediatric age group. The hypothesis of intraventricular schwannoma is postulated to be aberrantly placed multipotent cell during embryogenesis and later transforming into Schwann cell and producing schwannoma. Pertinent literature is reviewed along with diagnosis, and management of such rare case is discussed briefly.

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DiGeorge syndrome (DGS) is the most common microdeletion syndrome. The phenotype of DGS is highly variable involving facial, velopharyngeal, cardiac, immunologic, endocrinal, and neuropsychiatric abnormalities. Although neural tube defects (NTDs) have not been described as components of DGS in standard pediatric textbooks, there have been a few case reports of DGS with NTDs. Furthermore, in patients with DGS, seizures can occur due to hypocalcemia or cortical dysgenesis. Few cases of epilepsy have been reported with NTDs without a cortical defect. Here, we report a case of an infant with DGS with a sacral myelomeningocele inherited from the mother. The infant developed epilepsy without hypocalcemia or cortical dysgenesis which is considered related to the sacral myelomeningocele.

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Inferior petrosal sinus sampling (IPSS) is a minimally invasive method done in adrenocorticotrophic hormone (ACTH)-dependent pituitary adenoma cases where magnetic resonance imaging (MRI) either gives equivocal results or fails to localize it. A 12-year-girl with cushingoid features and raised ACTH levels presented to us with two consecutive MRI’s done outside showing gross change in the morphology of a left-sided pituitary adenoma. Hence, a bilateral IPSS was done which showed a higher IPS/periphery ACTH ratio on the right side as compared to left. Transsphenoidal endoscopic excision of the left pituitary adenoma along with right hemihypophysectomy was performed. ACTH levels fell postoperatively. This case stands distinct in highlighting the discordance in lateralization of pituitary adenoma on MRI and IPSS. Review of literature tells us that while IPSS is more sensitive in accurately diagnosing Cushing’s disease, MRI provides better accuracy in lateralizing the site of adenoma.

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Lipomeningomyelocele (LMMC) with Jarcho–Levin syndrome (JLS) is extremely rare. The syndromic association is one of LMMC with JLS is one of phenotype of spondylocostal dysostosis (SCD). SCD is an autosomal-recessive disorder characterized by defects in the vertebrae and abnormalities of the ribs in the form of segmental fusion, malalignment, or absence of a few ribs. These patients are prone to pulmonary insufficiency and repeated infections. Close anesthetic vigil is also needed to maintain optimal ventilation during surgery. We are reporting a case of 11-month-old male child presented with LMMC swelling and absent left-side multiple ribs. On further evaluation, we found hemivertebrae and scoliosis. This report highlights the experience of operating a child with JLS in prone position.

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Mycotic cerebral aneurysms in neonates are extremely rare and can be difficult to diagnose without a high index of suspicion. We describe a 33-week gestation preterm neonate who developed a mycotic cerebral aneurysm leading to death before repair could be performed. We believe this to be the first literature reported case of a mycotic cerebral aneurysm in a preterm infant. This case revives the ongoing question of when to perform a lumbar puncture in a potentially septic or meningitic infant, while also casting light on maintaining a high index of suspicion for rare intracranial diagnoses that require cranial imaging.

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Hydatid diseases are still endemic pathologies in developing countries which Atatürk University, Erzurum, generally needs surgical treatment. The main aim of the treatment is total cyst various complications of hydatid disease surgery which include cortical collapse which is very serious and can be mortal. Our case was a 6-year-old boy diagnosed with a solitary isointense cystic mass in the left parietal region. There was no surrounding edema. The cyst was completely evacuated with Dowling technique without rupture. In about 10 min after evacuation, hemispheric cortical collapse occurred, and the patient developed cardiac arrest. Although cortical collapse is a rare complication, it can cause perioperative mortality. Special care and efforts should be taken as not to form large defects after cyst evacuation to prevent cortical collapse and related mortality.

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