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ORIGINAL ARTICLES |
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Study of environmental and genetic factors in children with craniosynostosis: A case-control study
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p. 89 |
Mayadhar Barik, Minu Bajpai, Rashmi Ranjan Das, Shasanka Shekhar Panda DOI:10.4103/1817-1745.117833 PMID:24082921Background: 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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Agreement between visual and goniometric assessments of adductor and popliteal angles in infants
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p. 93 |
Thejus T Jayakrishnan, Suvasini Sharma, Sheffali Gulati, RM Pandey, Sanjay Wadhwa, Vinod K Paul DOI:10.4103/1817-1745.117834 PMID:24082922Context: 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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Juvenile myoclonic epilepsy: Clinical characteristics, standard and quantitative electroencephalography analyses |
p. 97 |
Sai Krishna Tikka, Nishant Goyal, Shreekantiah Umesh, Shamsul Haque Nizamie DOI:10.4103/1817-1745.117835 PMID:24082923Objectives: 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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Outcome of patients with traumatic head injury in infants: An institutional experience at level 1 trauma center |
p. 104 |
Gaurang Vaghani, Pankaj K Singh, Deepak K Gupta, Deepak Agrawal, Sumit Sinha, Gurudutt Satyarthee, BS Sharma, Ashok K Mahapatra DOI:10.4103/1817-1745.117836 PMID:24082924Background: 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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NEUROIMAGING |
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Giant tumefactive perivascular spaces: A further case
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p. 108 |
Senthilkumar Sankararaman, Sujithra Velayuthan, Sudheer Ambekar, Eduardo Gonzalez-Toledo DOI:10.4103/1817-1745.117837 PMID:24082925Virchow-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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Primary spinal extra-osseous intradural mesenchymal chondrosarcoma in a young boy
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p. 111 |
Mazda K Turel, Vedantam Rajshekhar DOI:10.4103/1817-1745.117838 PMID:24082926Primary 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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CASE REPORTS |
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Volume increase in craniopharyngiomas under growth hormone and/or sex hormones substitution: Role of tumors receptors or mere coincidence? |
p. 113 |
F Chentli, S Deghima, H Zellagui, S Azzoug DOI:10.4103/1817-1745.117839 PMID:24082927Craniopharyngiomas 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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Atypical juvenile neuronal ceroid lipofuscinosis: A report of three cases
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p. 117 |
Gururaj Setty, Rashid Saleem, Arif Khan, Nahin Hussain DOI:10.4103/1817-1745.117840 PMID:24082928The 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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Pediatric anti-N methyl D aspartate receptor encephalitis
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p. 120 |
Vinit Suri, Sushma Sharma, Rohan Gupta, SK Sogani, Sunit Mediratta, Nilesh Jadhao DOI:10.4103/1817-1745.117841 PMID:24082929Anti-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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Opercular syndrome: A case report and review
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p. 123 |
Soaham Dilip Desai, Dipen Patel, Sheela Bharani, Nikhil Kharod DOI:10.4103/1817-1745.117842 PMID:24082930We 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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Arteriovenous malformation associated with cyst in a child: Case report and review of literature
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p. 126 |
Paramveer Sabharwal, Tanmoy Maiti, Subhas Konar, Paritosh Pandey DOI:10.4103/1817-1745.117843 PMID:24082931Cysts 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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Primary occipital myxoma: A rare case report
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p. 129 |
Mallika Kawatra, Virendra Bhandari, Satish Phatak, Deepak Kulkarni DOI:10.4103/1817-1745.117844 PMID:24082932Myxomas 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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Ventriculo-peritoneal shunt: A rare cause of basal ganglia and thalamic abscess
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p. 132 |
Parvesh Sangwan, Bhaskar Saikia, Pradeep Kumar Sharma, Rachna Sharma, Praveen Khilnani DOI:10.4103/1817-1745.117845 PMID:24082933We 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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Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes unveiled by valproate |
p. 135 |
Neera Chaudhry, Yogesh Patidar, Vinod Puri DOI:10.4103/1817-1745.117847 PMID:24082934Valproic 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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Phenotypic heterogeneity in skeletal muscle sodium channelopathies: A case report and literature review |
p. 138 |
Rashid Saleem, Gururaj Setty, Arif Khan, Duncan Farrell, Nahin Hussain DOI:10.4103/1817-1745.117848 PMID:24082935Skeletal 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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Neuropsychological impairment in early-onset hydrocephalus and epilepsy with continuous spike-waves during slow-wave sleep: A case report and literature review  |
p. 141 |
Annio Posar, Antonia Parmeggiani DOI:10.4103/1817-1745.117850 PMID:24082936Epilepsy 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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Relapsing Devic's disease in a child
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p. 146 |
Gokcen Gokce, Osman M Ceylan, Fatih M Mutlu, Halil I Altinsoy, Talay Koylu DOI:10.4103/1817-1745.117852 PMID:24082937Neuromyelitis 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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Acute longitudinal myelitis as the first presentation in child with systemic lupus erythematosus |
p. 150 |
Vinay M Shivamurthy, Subramanian Ganesan, Arif Khan, Nahin Hussain, Arani V Sridhar DOI:10.4103/1817-1745.117854 PMID:24082938Systemic 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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Meckel-Gruber syndrome: A rare and lethal anomaly with review of literature
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p. 154 |
Sandesh V Parelkar, Satish P Kapadnis, Beejal V Sanghvi, Prashant B Joshi, Dinesh Mundada, Sanjay N Oak DOI:10.4103/1817-1745.117855 PMID:24082939Meckel-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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Spinal extradural inclusion dermoid cyst mimicking pseudomeningocele, appearing after 17 years of meningomyelocele repair
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p. 158 |
Vamsi Krishna Yerramneni, MR Patibandla, K Venkateswararao, VS Mudumba DOI:10.4103/1817-1745.117856 PMID:24082940Dermoid 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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Pediatric sciatic neuropathy presenting as painful leg: A case report and review of literature
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p. 161 |
Manish Prasad, Mohamed Babiker, Ganesh Rao, Christopher Rittey DOI:10.4103/1817-1745.117858 PMID:24082941Introduction: 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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Extradural hematoma surgery in a child with Hutchinson-Gilford progeria syndrome: Perioperative concerns
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p. 165 |
Upendra Hansda, Jyotsna Agarwal, Chitralekha Patra, Pragati Ganjoo DOI:10.4103/1817-1745.117860 PMID:24082942Hutchinson-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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Subcutaneous metastasis in medulloblastoma: A case report and review of literature
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p. 168 |
Tanmoy Maiti, Paramveer Sabharwal, Paritosh Pandey, B Indira Devi DOI:10.4103/1817-1745.117861 PMID:24082943Extraneural 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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LETTERS TO THE EDITOR |
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Terminal myelocystocele with holocord syringomyelia: Short report
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p. 171 |
Natarajan Muthukumar DOI:10.4103/1817-1745.117863 PMID:24082944 |
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Quadrigeminal plate cistern lipoma presenting with seizures in a child
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p. 172 |
Abhishek Jha, Mohd Khalid, Prakhar Gupta, Gagan Gupta, Syed Y.N Zaidi DOI:10.4103/1817-1745.117865 PMID:24082945 |
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"Reversible" stroke like episodes with bilateral diffusion restriction brain magnetic resonance imaging changes
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p. 173 |
Manish Prasad, Shanawaz Hussain, Daniele Connolly, Santosh Mordekar DOI:10.4103/1817-1745.117866 PMID:24082946 |
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Guillain-Barre syndrome presenting with severe hydrocephalus in a child
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p. 175 |
Mohammad Barzegar, Majid Malaki DOI:10.4103/1817-1745.117868 PMID:24082947 |
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Arachnoid cyst with ipsilateral subdural hematoma in an adolescent - causative or coincidental: Case report and review of literature
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p. 177 |
Prasad Krishnan, Rajaraman Kartikueyan DOI:10.4103/1817-1745.117869 PMID:24082948 |
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Hydrocephalus due to aqueductal stenosis in a case of mumps meningoencephalitis: A rare complication
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p. 179 |
Imkongkumzuk Pongener, Devki Nandan, Girish Chandra Bhatt, Vivek Dewan DOI:10.4103/1817-1745.117871 PMID:24082949 |
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