Meckel-Gruber syndrome is a rare autosomal recessive lethal malformation characterized by typical manifestations of occipital encephalocele, bilateral polycystic kidneys and post axial polydactyly. The worldwide incidence varies from 1 in 13,250 to 1 in 140,000 live births. Highest incidence was reported in Gujarati Indians. We report a rare case of Meckel-Gruber syndrome and review of literature.

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Objectives: Most studies comparing inter-ictal background quantitative electroencephalography (EEG) measures in generalized epilepsies with normal controls do not specifically determine patients with juvenile myoclonic epilepsy (JME) as a separate group. The study aims at comparing absolute spectral power and global field coherence in various frequency bands between patients diagnosed exclusively with JME and 10 healthy controls, and correlating significantly different quantitative EEG measures with various clinical characteristics and standard EEG abnormalities. Materials and Methods: Clinical and EEG data were collected from 10 patients with JME and 10 healthy controls. Spectral power and global field spectral coherence were calculated using Welch's averaged periodogram method. The data was analyzed using descriptive statistics, Fisher's exact test and t-test. Results: Statistically significant (or trend level) higher power (global α and θ, frontal α and θ, left temporal θ, right occipital α, δ and γ₁ , and central δ, θ, α, β, and γ₂ ) and coherence (global α and γ₁ ) was found in JME patients when compared to controls. Significant correlation of left frontal and central θ-power with presence of absence seizures (negative), central δ-, and θ-power with the presence of psychiatric comorbidity and central θ-power with frequency of myoclonic seizures was found. Conclusion: Findings on global-frontal and temporal-occipital power support "mild diffuse epileptogenic state" and "θ-activity as an endophenotype" concepts in JME patients, respectively; findings suggest future studies on JME to include psychiatric comorbidity while selecting the sample; some spectral measures (e.g., central θ-power) do relate to progression of JME while some do not.

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Valproic acid (VPA) is widely used as an anti-epileptic drug. The primary mechanism of VPA toxicity is interference with mitochondrial beta-oxidation, and it can exacerbate an underlying mitochondrial cytopathy. We report a case of Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes unmasked by use of Sodium Valproate in a 12-year-old boy who presented with headache and seizures. There was precipitation of encephalopathy, myopathy, lactic acidosis, and hepatic damage within two days of valproate use, after withdrawing of which there was a remarkable clinical and biochemical recovery.

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We present a 9-year-old boy with history of perinatal asphyxia and neonatal seizures; who presented with delayed development of speech, with predominant dysarthria, dysphagia, and drooling of saliva and unable to protrude tongue along with delayed motor and mental milestones. He had complex partial seizures since last 3 years requiring multiple anti-epileptic drugs. He had dysarthria, nasal twang, and drooling of saliva with difficulty in chewing and swallowing. Hearing and understanding were normal. Bilateral trigemino-facio-linguo-pharyngeal palsy was noticed on voluntary movements with normal jaw jerk with preserved automatic and emotional motor movements. Electroencephalography revealed focal left fronto-temporal epileptiform discharges and brain imaging was suggestive of bilateral cortical and subcortical region encephalomalacia, predominantly involving bilateral opercular region. The clinical and neuroimaging features correspond to bilateral opercular syndrome which could have resulted from the perinatal insult in this case.

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Hutchinson-Gilford progeria syndrome (HGPS) is a very rare genetic disorder characterized by premature ageing, severe growth failure, and very early onset atherosclerosis. Psychologically and emotionally child-like, these patients suffer from physiological changes of old age. Early and progressive atherosclerosis of intra-cranial vessels in HGPS patients, along with a thin skin and fragile vessels, make these patients susceptible to intra-cranial hematomas following relatively trivial injuries and to severe intra-cranial disease. Anesthetizing HGPS patients for surgery can be challenging due to the presence of a possible difficult airway, multi-system derangements, and associated skin, bone and joint disease. We report here one such child with HGPS who underwent craniotomy and evacuation of an extradural hematoma that developed after minor head trauma. Securing his airway during surgery was difficult.

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Virchow-Robin spaces (VRS) or the perivascular spaces are small pial lined, cystic structures in the brain and are filled with interstitial fluid. They are normal spaces, identified in all age groups and are common in places where the penetrating vessels enter into the substance of brain. Occasionally, these spaces can be enlarged and are termed as giant tumefactive perivascular spaces (GTPVS). When enlarged, these cysts are commonly confused with other lesions such as cystic neoplasms. The pathognomonic imaging appearance helps in the diagnosis of this condition in most instances and invasive management is unwarranted. We report a 4-year-old male with GTPVS. In our patient, GTPVS were diagnosed incidentally on brain imaging ordered for a head trauma and he was managed conservatively. During 1-year follow-up, he remained asymptomatic and the size of the cysts was virtually unchanged.

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Background: Traumatic head injury is a common cause of mortality and acquired disability in infants and children. However, patterns and outcome of head injury in infants are different from other age groups. Aims and Objectives: Aim of our study was to find out epidemiological factors, characteristics of injury, and outcome in infants with traumatic brain injury. Materials and Methods: This is a retrospective study from March 2009 through Feb 2012, at JPNATC, AIIMS, New Delhi. The clinical records of all patients, admitted with head injury were evaluated. Twenty-nine infants with traumatic brain injury were followed up and outcome was analyzed. Results: Twenty-nine infants with traumatic brain injury were included in the study. Of these 17 (59%) were boys and 12 (41%) were girls. Fall from height was recorded in 27 (93%) patients and road traffic accident was the mode of injury in 2 (7%). Mild head injury (GCS 14-15) was found in 18 (62%) patients, moderate in 4 (14%) patients (GCS 9-13), severe (GCS 3-8) in 7 (24%) patients. SDH was the most common injury in 8 (27%) patients. Out of these 4 (14%) were immediately operated, 25 (86%) were managed conservatively. Overall mortality was 11% (3 patients). Glasgow Outcome Scale was 5 in 20 (69%) patients and 3 (10.3%) patients each had GOS 3 or 4. Conclusion: Infants suffered significant brain injury due to fall. Traumatic brain injury in infants generally carries good outcome. Severe head injury was observed to be a predictor of poor outcome.

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The diagnosis of juvenile neuronal ceroid lipofuscinosis (JNCL) is usually based on age of onset, initial clinical symptoms, clinical progression, and pathologic findings. Our cases manifested atypical clinical symptomatology and/or pathologic findings and therefore, represent variant forms of JNCL. Case 1 and 2 presented with slow developmental regression from the age of 4 years and became blind and wheelchair bound at around 8 years. Pathologic finding of lymphocytes showed fingerprint inclusion which was consistent with JNCL. Mutational analysis was positive for CLN5 which usually presents as variant late infantile NCL (LINCL) and more common in Finnish population. Case 3 presented with progressive visual loss from the age of 8 years. Clinical symptomatology and age of onset were similar to that of JNCL but was found to have low palmitoyl protein thioesterase, granular inclusion body, and CLN1 mutation, thus representing milder form of INCL. These three cases demonstrated phenotypic-genotypic variations. Pertinent issues relating diagnostic difficulties, ophthalmologic, neuroradiological, and laboratory aspects are discussed.

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Background: Craniosynostosis is a congenital defect that causes one or more sutures on an infant's skull to close earlier than normal. Though both genetic and environmental factors play a role in its pathogenesis, there is no published Indian data to verify this. Materials and Methods: In this case-control study, we investigated the association of craniosynostosis with parental age in 50 children with craniosynostosis attending the surgical outpatient department of a tertiary care institution in North India. Results: There was a significant association of craniosynostosis with advanced parental [OR 2.17 (95% CI 1.08 to 4.36)] but not maternal age. Education status of parents also revealed that those having a higher education had an increased risk of having a child with craniosynostosis [maternal education, OR 2.32 (95% CI 1.2 to 4.76); paternal education, OR 2.51 (95% CI 1.21 to 5.0)]. Molecular analysis by sequencing confirmed following amino-acid substitution in differentExons of the FGFR2 gene. Besides these, we found other novel identical mutations in FGFR2 gene in both syndromic and non-syndromic craniosynostoses. Conclusion: This is the first epidemiological study in India that provides evidence that, advanced paternal age and higher parental education level might be associated with an increased risk of craniosynostosis. New mutations were identified in cases of both syndromic and non-syndromic craniosynostosis.

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Extraneural metastasis (ENM) in patients with medulloblastoma is a rare but a well-described phenomenon, both in children and adults. Most of the ENM involve bone and bone marrow and rarely involve other solid organs. Subcutaneous and muscular metastasis is an extremely rare event, more so in children, with only two cases documented in the pediatric population. We describe a case of medulloblastoma with ENM in right masseter and subcutaneous plane along with concomitant central nervous system relapse, 4 years after the primary diagnosis, with a brief review of the literature.

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Introduction: Mononeuropathies, in general, are very uncommon in childhood. Sciatic neuropathy (SN) is probably underappreciated in childhood and likely to represent nearly one quarter of childhood mononeuropathies. Materials and Methods: We present a 7-year-old girl who presented with painful right lower limb and abnormal gait. Detailed investigation revealed transient eosinophilia, abnormal neurophysiology, and magnetic resonance imaging (MRI) suggestive of isolated sciatic neuropathy. Results: She has responded very well to physiotherapy and has made a complete motor recovery, although she is left with an area of abnormal sensation affecting the lateral border of her right leg and the dorsum of her foot. Discussion: Differential diagnoses for pediatric SN have been discussed including compressive neuropathies in children and various hyper-eosinophilia syndromes. Compressive neuropathies in childhood are very rare and compression of the sciatic nerve is the second most common group after peroneal nerve lesion.

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Neuromyelitis optica (NMO) also named Devic's disease is an acute demyelinating disorder that primarily affects the spinal cord and optic nerves. NMO can occur rarely in children but pediatric NMO cases need specific consideration owing to possible poor visual and motor outcome. In this case report, a NMO case of a 10-year-old girl with bilateral optic neuritis, cerebral, and spinal cord involvement is presented.

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Systemic lupus erythematosus (SLE) is a multi-system auto-immune disorder that is characterized by widespread immune dysregulation, formation of auto-antibodies, and immune complexes, resulting in inflammation and potential damage to variety of organs. It is complicated by neurological manifestations in 25-95% of the patients. Acute transverse myelitis (ATM) may be a complication in 1-2% of patients with SLE but in some patients it may be the initial manifestation of SLE. This sub-group of patients where ATM is the presenting feature may not fulfil the ACR criteria for the diagnosis of SLE which may delay the diagnosis and may affect the outcome. In those patients where the involvement is more than four segments of the spine are believed to have poor prognosis, but early diagnosis and treatment may alter the course and lead to a better outcome. We describe a young Polish girl where ATM was the initial manifestation of SLE involving almost the whole length of spine but she had a reasonably good outcome following early diagnosis and aggressive treatment.

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Craniopharyngiomas are rare embryonic tumors with low grade of malignancy that arise in supra-or intra-sellar areas with severe ophthalmological, neurological, and endocrine damages. Among pituitary deficits, somatotroph and gonadotroph deficiencies are the most challenging because of potential increased risk of tumor growth and recurrence. While data exist to suggest that growth hormone (GH) treatment is safe, very little is known about sex hormones replacement on tumor growth. Our aim was to report 3 craniopharyngiomas with tumor increase under GH and/or estrogen (E2) therapy. The three patients, aged 21, 22, and 23, were studied for severe short stature related to calcified (n = 1) or apparently stable (for more than 2 years) craniopharyngiomas with somatotroph and gonadotroph deficiencies. After 4 months to 1 year GH (n = 2) and/or E2 replacement (n = 3), there was an increase in craniopharyngiomas' size with signs of intracranial hypertension in two cases. In our three craniopharyngiomas that were either totally calcified or stable before substitution, the tumor increase seemed to be the result of GH and/or E2 substitution. But, as spontaneous evolution of these tumors is unpredictable, we could not exclude a mere coincidence.

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Cysts associated with arteriovenous malformations (AVMs) are either secondary to hemorrhage or after radiosurgery. Untreated and unruptured AVMs with large cysts are rare. We here describe a child with medial parietal AVM associated with cyst, without any history of hemorrhage or radiosurgery. Surgical excision led to cure for the patient.

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Myxomas are benign tumors arising from mesenchymal tissues throughout the body. These tumors are usually seen in the atrium of heart and the jaw bone. Only a few cases of primary intracranial myxomas have been described in the literature. A rare case of primary myxoma of the occipital region is presented. A 12-year-old boy had mild occipital headache for the past 2 months which was unnoticed. Local hairdresser noticed a bulge in the occipital region while doing haircut and informed the parents and medical opinion was taken. He was seen by a neurosurgeon and after investigations he underwent craniotomy. Near total resection of the tumor was achieved. Histopathology and immunohistochemistry confirmed it to be a myxoma with no underlying cardiac focus. Following surgery the patient had rapid recovery.

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We report an 18-month-old female child with ventriculo-peritoneal shunt related thalamic abscess treated with stereotactic aspiration. Deep seated abscesses are complex due to difficult access and are associated with an increased risk of intra-ventricular rupture as well as antibiotic resistance, a fact which justifies a more aggressive and immediate neurosurgical management.

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Dermoid cysts are congenital cystic tumors arising from embryonic rests and commonest site is in the thoracic region of the spinal canal. The authors reported a case of dermoid cyst in a 17-year-old boy appearing after lumbar meningomyelocele repair at 2 months of age. The boy presented with 6 months history of gradually progressive globular swelling at the site of previous scar and weakness of the left foot. Preoperatively small extradurally protruding placode was seen attached to the swelling. The swelling was completely excised. At 1 year follow-up patient had improvement in foot weakness with magnetic resonance imaging showing no residual or recurrent lesion.

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Anti-N Methyl D Aspartate Receptor encephalitis (anti-NMDARE) is a recently defined disease, which is probably more under-recognized than rare. We report a case of anti-NMDARE in a 13-years-old girl, who presented with intractable seizures. To the best of our knowledge, this is the second case of pediatric anti-NMDARE being reported from India. The need for a greater awareness of this disease and the subtle differences in clinical presentation between pediatric and adult patients are highlighted.

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Skeletal muscle sodium channelopathies (SMSCs) including hyperkalemic periodic paralysis (HyperPP), paramyotonia congenita (PC), and sodium channel myotonia are caused by sodium channel gene (SCN4A) mutations, with altered sarcolemal excitability, and can present as episodes of skeletal muscle weakness, paralysis, and myotonia. We report a teenage boy, who presented with features of HyperPP, PC, myotonia congenita, and sodium channel myotonia. His electromyography (EMG) revealed myopathic changes, myotonia, and Fournier EMG pattern I, and posed a diagnostic challenge. Genetic analysis showed Thr704Met mutation in SCN4A gene. While with typical clinical phenotypes, the electromyographic patterns can be used to direct genetic testing, atypical phenotypes may pose diagnostic dilemmas. Clinicians dealing with neuromuscular disorders in children need to be aware of the unusual clinical presentations of SMSC, so that focused genetic testing can be carried out.

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Context: Amiel-Tison method is a commonly used technique for assessing tone and neurological status of infants. There is a paucity of data on the reliability of visual assessment of angles, a component of this method. Subjects and Methods: We compared the visual and the goniometric assessment of adductor and popliteal angles in infants with hypertonia and neurologically normal controls. A total of 16 infants with hypertonia and 15 normal infants underwent blinded assessment of the adductor and popliteal angles. Statistical Analysis: The mean and standard deviation for the difference between visual and goniometric measurements were calculated for popliteal and adductor angles. Results: The mean differences between visual and goniometric measurements for the popliteal angle were 4.94 (SD3.40) and 8.73 (SD6.10) degrees for the cases and controls respectively. Similarly, the values for adductor angle measurements were 8.94 (SD8.23) and 14.47 (SD8.47) degrees respectively. Conclusion: The deviation of visual assessment from goniometric measurement was found to be less for popliteal angle measurement as compared to adductor angle measurements. It was note-worthy that the difference was less for the measurements of children with spasticity.

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Epilepsy with continuous spike-waves during slow-wave sleep (CSWS) is often characterized by a severe cognitive and behavioral impairment. Symptomatic cases also include patients with an early-onset hydrocephalus, but in literature detailed neuropsychological data on these subjects are not available. We describe the results of serial cognitive assessments in a girl with shunted early-onset hydrocephalus, followed by partial epilepsy complicated with CSWS at 4 years 10 months, in which a dramatic cognitive and behavioral deterioration occurred few months after CSWS onset. Adrenocorticotropic hormone treatment improved both clinical and electroencephalogram picture, but an impairment of visual perception, visual-motor coordination and executive functions persisted after CSWS disappearance. We hypothesize, in this case, an involvement of right occipital-parietal lobe and prefrontal lobe.

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Primary spinal intradural mesenchymal chondrosarcoma is rare. We report the case of a 6-year-old boy to emphasize on the importance of considering this entity as differential diagnosis even when the lesion is purely intradural with no bony involvement.

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