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Journal of Pediatric Neurosciences

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https://www.readbyqxmd.com/read/30090162/lethal-neonatal-coq-deficiency-due-to-a-coq9-variant
#1
Josef Finsterer, Fulvio A Scorza, Ana C Fiorini, Carla A Scorza, Antonio Carlos de Almeida
No abstract text is available yet for this article.
April 2018: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/30090161/an-atypical-electroencephalographic-finding-in-a-child-with-subacute-sclerosing-panencephalitis
#2
Jyotindra N Goswami, Jitendra K Sahu, Pratibha Singhi
No abstract text is available yet for this article.
April 2018: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/30090160/thiamin-responsive-pdh-deficiency-due-to-a-pdha1-variant
#3
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
April 2018: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/30090159/primary-ewing-s-sarcoma-of-cranium-in-a-pediatric-patient
#4
Mahmood D Al-Mendalawi
No abstract text is available yet for this article.
April 2018: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/30090158/continuous-dynamic-subcortical-mapping-using-a-suction-monopolar-device-in-a-child-case-report-and-technical-note
#5
Aliasgar Moiyadi, Parthiban Velayutham, Jeson Doctor, Ashwin Borkar, Vikas Singh
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...
April 2018: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/30090157/citrullinemia-with-an-atypical-presentation-paroxysmal-hypoventilation-attacks
#6
Zeynep Öztürk, Tuğba Hirfanoğlu, Aslı İnci, İlyas Okur, Esin Koç, Leyla Tümer, Ebru Arhan, Kürşad Aydın, Ayşe Serdaroğlu
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 4-5 min. 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...
April 2018: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/30090156/epileptic-encephalopathy-and-autism-a-complex-interplay
#7
Ashish H Chepure, Mansi P Somaiya, Alka A Subramanyam, Ravindra K Kamath
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...
April 2018: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/30090155/unilateral-cerebral-atrophy-severe-neuroimaging-feature-of-incontinentia-pigmenti-without-acute-encephalopathic-state
#8
Debopam Samanta
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...
April 2018: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/30090154/neonatal-epidural-lipomatosis-a-rare-case
#9
Jaswir Singh, Manpreet Sodhi, Neha Arora
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...
April 2018: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/30090153/double-encephalocele-an-unusual-presentation
#10
Enono Yhoshu, Vedarth Dash, Monika Bawa
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.
April 2018: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/30090152/pilocytic-astrocytoma-with-adipocytic-differentiation-a-rare-histological-variation
#11
Neha Garg, Kavita Gaur, Vineeta Vijay Batra, Anita Jagetia
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...
April 2018: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/30090151/a-rare-case-of-inflammatory-myofibroblastic-tumor-of-meninges
#12
Kumari A Lata, Vaishali Upadhyay, Shashi S Pawar
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...
April 2018: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/30090150/midline-posterior-fossa-mature-teratoma-in-a-child
#13
Harshad Patil, Nitin Garg
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.
April 2018: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/30090149/anesthetic-considerations-for-ventriculoatrial-shunt-insertion-in-a-child-with-cerebrospinal-fluid-ascites
#14
Rajeeb K Mishra, Arvind Chaturvedi, Bhagya R Jena, Girija P Rath
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...
April 2018: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/30090148/endovascular-treatment-of-a-patient-with-moyamoya-disease-and-seckel-syndrome-a-case-report
#15
Aylin Gunesli, Cagatay Andic, Ozlem Alkan, Ilknur Erol, Halil Ibrahim Suner
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.
April 2018: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/30090147/a-rare-case-of-human-tail-associated-with-lipomyelomeningocele-and-tethered-cord
#16
Gokhan Canaz, Nesrin Akkoyun, Erhan Emel, Orhun M Cevik, Serdar Baydin, Akın Gokcedag
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...
April 2018: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/30090146/infantile-tuberculous-meningitis-complicated-by-west-syndrome
#17
Sumeet R Dhawan, Jitendra K Sahu, Naveen Sankhyan, Sameer Vyas, Pratibha D Singhi
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.
April 2018: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/30090145/aggressive-brainstem-glioblastoma-in-a-9-year-old-child-with-neck-node-metastases-a-case-report-and-review-of-literature
#18
Vijay Sundar Ilangovan, V R Roopesh Kumar, Vijay Sankaran, K R Suresh Bapu, Sunil Kapilavayi
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...
April 2018: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/30090144/bull-horn-head-injury-with-retained-horn-in-brain-a-rare-case-report
#19
Pavan Kumar, Vardan Kulshreshtha, Ashok Kumar, Gaurav Jaiswal, Tarun K Gupta
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.
April 2018: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/30090143/neuroimaging-features-of-tuberous-sclerosis-complex-and-chiari-type-i-malformation-a-rare-association
#20
Gianpaolo Grilli, Angelo P Moffa, Francesco Perfetto, Leonardo P Specchiulli, Roberta Vinci, Luca Macarini, Luciano Zizzo
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...
April 2018: Journal of Pediatric Neurosciences
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