The congenital myopathies are a heterogeneous group of inherited neuromuscular disorders characterized by early-onset muscular weakness, hypotonia, and developmental delay. The congenital myopathies are further classified into centranuclear myopathies, nemaline myopathies, core myopathies, and congenital fiber-type disproportion based on major pathological features found in muscle biopsies. There is no evidence at present to show that cleft palate is associated with severe nemaline myopathies and fetal akinesia. The results of our study suggest that KLHL40 mutation associated with Cleft palate, nemaline myopathy and fetal akinesia.

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Schizencephaly is a rare type of neuronal migration disorder characterized by the presence of a cerebral hemispheric cleft that extends from lateral ventricles to the cortical surface of the brain. We report a rare case of prenatally diagnosed unilateral schizencephaly in a late preterm infant who manifested with rapidly progressive hydrocephalus with massive enlargement of posterior cerebrospinal fluid spaces with tonsillar herniation that was successfully treated with placement of a ventriculoperitoneal shunt.

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Giant occipital encephalocele is an uncommon condition. The sheer size of the lesion poses a challenge to the surgeon and the anesthetist. Here, we present a 4-month-old girl child presenting with a progressively increasing swelling in the occipital region since birth. The child after evaluation underwent repair of the encephalocele. The purpose of this report was to highlight the difficulties faced during surgery while operating on such a huge occipital encephalocele.

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Background: Intracranial tumors are the most common pediatric solid tumors. Only one-third of these tumors arise from the supratentorial compartment. The abnormal intracranial tumors are unusual but can bleed to an extent causing hemorrhagic shock necessitating blood transfusion in the perioperative period. The perioperative management of these subset of patients poses a unique challenge to both the neurosurgeons and the neuroanesthetic team. Materials and Methods: This study included a case series of 30 patients with giant supratentorial neoplasms who underwent craniotomy and tumor resection from 2014 to 2017 in our Tertiary Care Institute. The clinical data were collected from the patient’s records obtained from the Department of Neurosurgery, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India. The aim of this case series was to characterize the perioperative challenges, management strategies, course, and outcome in 30 children who were operated for elective or emergency resection of giant supratentorial lesions in our hospital. We also reviewed the literature available to guide the anesthetic management of pediatric patients with intracranial tumors. Results: Among the 30 patients, four had significant intraoperative fluid shifts necessitating massive blood transfusion perioperatively. The overall incidence of mortality in our study cohort was 16.67% (5/30). Conclusion: The maintenance of systemic physiological homeostasis by anticipation of complications, vigilant monitoring, and prompt resuscitation is critical to foster favorable outcomes in unison with optimal and safe surgical extirpation of the primary cerebral lesion.

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Background: Many patients presenting with migraine also complain of constipation. The relationship between these two symptoms has not been explored yet in detail. This study, therefore, was carried out to investigate the effect of treatment of constipation with lactulose on the improvement of migraine headache in patients who referred to neurology clinics in Arak. Materials and Methods: A total of 50 patients with migraine were selected based on the Headache International Society (HIS) index and the Rome Foundation is an independent not for profit 501(c) 3 organization that provides support for activities designed to create scientific data and educational information to assist in the diagnosis and treatment of functional gastrointestinal disorders (FGIDs) (ROME III) scale so as to diagnose their migraine and constipation. The patients were randomly divided into an experimental group and a control group. A 15 cc daily of lactulose syrup was prescribed to the experimental group with the antimigraine drugs (10-mg nortriptyline and 10-mg propranonol daily). In contrast, only the standard treatment for migraine was prescribed for the control group. The severity of disability was assessed based on the severity of migraine-induced disability (MIDAS) questionnaire. Having collected the data, the data analysis was carried out using Statistical Package for the Social Sciences (SPSS) (IBM Corp. Released 2013. IBM SPSS Statistics for Windows, Version 21.0. Armonk, NY: IBM Corp.) statistical t-tests, and repeated measures test. Results: The results of the independent sample t-test showed no significant difference between the control and intervention group’s main variables of the research before the intervention (P < 0.05). On the contrary, the results of the repeated measures test indicated that the mean scores ‑of the severity of disability and the severity of migraine pain between the measurement times were significantly different for the intervention and control groups, in a way that after one and/or two months of using lactulose syrup, the severity of disability and pain in the intervention group was lower than those of the control group (P < 0.001). Conclusion: Short-term follow-up of this study showed that lactulose syrup could remove the constipation with no significant side effects––can be used as an adjunct for the treatment of patients with migraine. However, future studies suggested for long-term consequences of constipation control.

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Anti-NMDAR (N-methyl-d-aspartate receptor) encephalitis is a potentially severe form of encephalitis associated with antibodies against NR1 and NR2 subunits of the NMDAR. Anti-NMDAR encephalitis is a treatable cause of encephalitis. An underlying tumor should be actively looked for as this is also considered to be a paraneoplastic syndrome. We report two children with anti-NMDAR encephalitis with a literature review of current evidence in diagnosing and managing this rare condition. Resection of the tumor, glucocorticoids, intravenous immunoglobulin, and plasma exchange often result in improvement, usually within four weeks. Outcome corresponds with the rapidity of commencing appropriate treatment.

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Aim and Objectives: This study aimed to evaluate the predictive role of early post-cooling brain magnetic resonance for developmental outcome in newborns with hypoxic–ischemic encephalopathy. Materials and Methods: A retrospective cohort study was performed on 29 consecutive patients through magnetic resonance evaluation (visual analysis of the images and scoring of the detected lesions; mean diffusivity of semioval centre and lenticular nuclei; and area under the curve of basal ganglia N-acetylaspartate at proton magnetic resonance spectroscopic imaging) and Griffiths Mental Development Scales–third edition at 12 and 24 months. Results: Brain magnetic resonance was performed at a mean age of 5.7 ± 3.7 days. Newborns with no/minor magnetic resonance abnormalities had a better developmental outcome than patients with moderate or severe lesions. Structural and spectroscopic abnormalities in basal ganglia resulted in the most significant predictors for an unfavorable outcome. Conclusion: Normal magnetic resonance in early post-cooling phases is strongly associated with a favorable developmental outcome.

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Glioblastoma (GBM) is an aggressive cancerous neoplasm of the brain that has numerous morphological subtypes. Primitive neuroectodermal differentiation (hereafter, referred to as embryonal tumor [ET] differentiation) in GBM is one of them and is known to occur in adults. Their presentation in pediatric population is rare and can be a source of diagnostic confusion. The dual pathology leads to doubts where one could ask whether it is ET differentiation in GBM specimen or glial differentiation in ET specimen. This histological discrimination has a bearing on the treatment regimens and prognosis. We report a case of a 10-year-old boy presenting with a supratentorial GBM, isocitrate dehydrogenase wild type with ET differentiation, and multiple benign bony lesions of both extremities. He underwent surgical excision for the brain neoplasm followed by radiotherapy and has shown prolonged survival with no recurrence. In this article, we discuss prognostic factors associated with long-term survival of these tumors.

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Albright hereditary osteodystrophy (AHO) is a hereditary metabolic disorder that presents with seizure secondary to hypocalcaemia. A careful phenotypic assessment of patients presenting with seizure clues to the diagnosis of AHO. The characteristic features are short stature,obesity and brachydactyly.Pseudohypoparathyroidism (PHP) is observed in patients with AHO and is characterized by inability of the body to respond appropriately to parathormone, mainly characterized by hypocalcaemia, increased serum parathormone concentration, insensitivity to the biological activity of parathormone, and hyperphosphatemia. In this study, we report a 14-year-old boy with distinctive phenotype of AHO, oral manifestations, and signs of tetany with PHP presenting as recurrent generalized seizure.

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Cerebellar malformations are a rare group of disorders with clinical heterogeneity. The usual posterior fossa malformations comprise of the cystic lesions like Dandy-walker complex, enlarged cisterna magna or arachnoid cysts. The vermis is a commonly associated structure in both cystic and non-cystic posterior fossa malformations. The congenital malformations affecting the cerebellar parenchyma are however very rare. Magnetic resonance imaging (MRI) is an excellent modality to detect and accurately classify these malformations. We describe a case of 14 years old boy with unilateral cerebellar hypoplasia and recurrent seizures with emphasis on the MRI features of this rare entity.

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Introduction: Cervicothoracic spinal dysraphism (CTSD) is relatively rare with reported incidence of 1%–6.5%. The entity has a separate spectrum of associations with other anomaly such as split cord malformation, Chiari malformation, and corpus callosum agenesis as compared with its lumbosacral counterpart. In this study, we have highlighted the associated anomalies (AAs). To the best of our knowledge, this study is one of the largest series reported before. Materials and Methods: In this study, we included the patients with spinal dysraphism operated between December 2007 and December 2017 at the Department of Neurosurgery. All patients underwent neurological and radiological examinations followed by surgical excision of the sac and exploration of the intradural sac. Neurological, orthopedic, and urological abnormalities were analyzed in our retrospective description. The last available follow-up in hospital records was taken for outcome assessment. Results: Of 34 cases, 18 were women and 16 were men. Seven of nine patients in cervical group had AAs, whereas 22 of 25 patients in dorsal group had AA. In this study, we taken 6 patients with Chiari malformation, 4 with corpus callosum agenesis, 7 with hydrocephalus, and 16 with split cord malformation. The follow-up ranges from 1 year to 11 years with a mean of 59.45 months. Conclusion: The management strategy and association with other congenital anomalies separate CTSD as different clinical entity as compared with their lumbosacral counterparts. These patients show relatively favorable outcome with regard to neurological, orthopedic, and urological symptoms. Early surgical intervention after proper radiological and clinical evaluation is recommended.

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