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Journal of Pediatric Neurosciences

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https://www.readbyqxmd.com/read/28553406/a-rare-cause-of-pleural-effusion-cerebrospinal-fluid-leakage
#1
Mehmet Alakaya, Ali Ertug Arslankoylu, Esra Vatansever Danaci, Hakan Ozalp, Anıl Ozgur, Caner Ispir
No abstract text is available yet for this article.
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28553405/cdkl-5-encephalopathy-in-an-indian-girl-partial-response-to-the-modified-atkins-diet
#2
Suvasini Sharma, Shaiphali Goel, Puneet Jain, Carla Marini, Davide Mei
No abstract text is available yet for this article.
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28553404/mucolipidosis-type-ii-secondary-to-gnptab-gene-deletion-from-india
#3
Vykuntaraju K Gowda, Varun V Raghavan, Meenakshi Bhat, Asha Benakappa
No abstract text is available yet for this article.
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28553403/autism-spectrum-disorders-the-troubles-with-the-diagnostic-and-statistical-manual-of-mental-disorders-5-th-edition
#4
Annio Posar, Paola Visconti
No abstract text is available yet for this article.
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28553402/proline-rich-transmembrane-protein-2-gene-mutation-in-a-sporadic-paroxysmal-kinesigenic-dyskinesia
#5
Puneet Jain, Suvasini Sharma, Guido Breedveld, Vincenzo Bonifati, Satinder Aneja
No abstract text is available yet for this article.
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28553401/hippocampal-sclerosis-in-a-child-with-multiple-neurocysticercosis
#6
Roosy Aulakh
No abstract text is available yet for this article.
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28553400/proteus-syndrome-with-neurological-manifestations-a-rare-presentation
#7
Pallavi Sachdeva, Priyanka Minocha, Rohit Jain, Sadasivan Sitaraman, Manisha Goyal
Proteus syndrome (PS) is an extremely rare and complex disorder. Approximately 200 cases have been reported, and it seems to affect people of all ethnic and racial groups. PS is characterized by segmental overgrowth of multiple tissues and organs including vascular malformations, lipomatous overgrowth, hyperpigmentation, and various types of nevi. We hereby present a 7-year-old boy who presented with seizures and overgrowth of one-half of the body. Although classical physical features have been described, epilepsy and other neurological manifestations are rarely reported features of PS...
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28553399/the-gut-brain-axis-a-new-pathogenic-view-of-neurologic-symptoms-description-of-a-pediatric-case
#8
Raffaele Falsaperla, Catia Romano, Piero Pavone, Giovanna Vitaliti, Qian Yuan, Nazgole Motamed-Gorji, Riccardo Lubrano
Recent literature data have given emphasis to the relationship between gastrointestinal (GI) disorders and neurologic diseases, underlying a new pathogenic pathway: The so-called "gut-brain axis." Herein, authors report a case of a 10-month-old male infant, admitted for drug-resistant epilepsy, associated with irritable behavior and GI discomfort, secondary to cow's milk protein allergy. Seizures were described by parents as upward eye movements that were mostly deviated to the right and were associated with slight extension of his neck...
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28553398/partial-encephalocraniocutaneous-lipomatosis-syndrome
#9
S Velusamy, S Sindhu Bharathi, B Krishnakumar
Encephalocranial lipomatosis is a rare disorder that characteristically involves ectomesodermal tissues such as skin, eye, and the central nervous system. Here, we report a 3-year-old girl presented with developmental delay, seizures, limbal dermoid, and weakness of right lower limb. Imaging revealed hemiatrophy, arachnoid cyst, and polymicrogyria. The constellation of clinical finding and imaging leads to the diagnosis.
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28553397/solitary-intramedullary-cervical-cysticercosis-without-neurological-deficit-a-rare-case-report
#10
Rahul Ranjan, Tulika, Suresh Chand, Akhil Agnihotri
Neurocysticercosis is commonly seen intracranially and its incidence in the spinal cord is very low. Among spine dorsal region is more common due to more blood flow in this region and it is usually associated with lesion at other sites. The intramedullary location is rarer than extramedullary. Hence, solitary intramedullary cervical spine cysticercosis (ICC) is extremely rare entity. Only a handful numbers of cases are reported in the literature. All reported cases are presented with the neurological deficit as spinal canal diameter is very low and any space occupying lesion is not tolerated...
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28553396/a-rare-case-of-repeated-migration-and-transurethral-extrusion-of-ventriculoperitoneal-shunt
#11
Asra Al Fauzi, Wahjoe Djatisoesanto, Joni Wahyuhadi, Muhammad Arifin Parenrengi, Agus Turchan
Bladder migration and transurethral extrusion is an extremely rare complication of ventriculoperitoneal (VP) shunt. Only eight cases have been reported in the English literature since 1995. We report a case of a 4-year-old boy with cerebral palsy, hydrocephalus, and VP shunted on both sides who presented with a protruded distal VP shunt from his urethral orifice. The patient was reported for having previous shunt extrusion through the anus. The patient was treated on by a multidisciplinary approach, involving a neurosurgeon and urologist...
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28553395/retrograde-partial-migration-of-ventriculoperitoneal-shunt-with-chamber-review-of-causative-factors-and-its-prevention
#12
Harsha A Huliyappa, Manish Jaiswal, Sunil K Singh, Balakrishna Ojha, Anil Chandra, Srivastava Chhitij
Distal migration of shunt is a very common occurrence. Proximal migration of shunt is rare and possible pathophysiological mechanisms to explain this unusual complication is rarely attempted. A 5-month-old child shunted for posttraumatic hydrocephalus presented 1.5 years later with raised intracranial pressure and seizures. Imaging showed subdural hygroma, partial intracranial migration of shunt/chamber. On endoscopy, choroid plexus was adherent to shunt tip and some pericranial tissue was found in the anchoring suture (intraventricularly displaced)...
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28553394/parainfectious-ocular-flutter-and-truncal-ataxia-in-association-with-dengue-fever
#13
Rohan R Mahale, Anish Mehta, Kiran Buddaraju, Rangasetty Srinivasa
Ocular flutter is an eye movement disorder characterized by purely horizontal rapid saccadic oscillations lasting for a few minutes which stops spontaneously. Postinfectious ocular flutter and truncal ataxia are a rare entity. There are reported cases of opsoclonus myoclonus ataxia in association with dengue virus infection. However, there are no reported cases of parainfectious ocular flutter and truncal ataxia in association with dengue virus infection. Hereby, we report a child with dengue fever who had ocular flutter and truncal ataxia...
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28553393/osteoblastoma-mimicking-an-idiopathic-intracranial-hypertension-syndrome
#14
Alessandro Boaro, Elisabetta Marton, Grazia Marina Mazzucco, Pierluigi Longatti
Osteoblastomas are rare, benign bone tumors mainly arising from the long bones and the posterior vertebral arches. Skull localizations account for approximately 15% of cases. A total amount of thirty cases involving the temporal bone are reported in the literature. Clinical presentation of temporal osteoblastomas often includes local pain and swelling, while 7(th) and 8(th) cranial nerve impairment is rare. We report the novel finding of increase intracranial pressure syndrome secondary to dominant transverse-sigmoid sinus junction compression caused by a small temporal bone osteoblastoma...
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28553392/glutaric-aciduria-type-i-a-rare-metabolic-disorder-mimicking-as-choreoathetoid-cerebral-palsy
#15
Pradosh Kumar Sarangi, Lulup Kumar Sahoo, Ashok Kumar Mallick, Prafulla Kumar Dash
Glutaric aciduria type I (GA I) is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase. This disorder is characterized by progressive dystonia, choreoathetosis, and dyskinesia. It is often misdiagnosed as athetoid cerebral palsy. Laboratory evaluation usually demonstrates increased urinary excretion of gluataric acid and 3-hydroxyglutaric acid. We report a case of a 7-year-old boy presenting with choreoathetosis and dystonia, mimicking as choreoathetoid cerebral palsy...
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28553391/aspergillus-growth-within-ventriculoperitoneal-shunt-tube
#16
Vikas Kumar, Poonam Sood Loomba, Daljit Singh, Ravindra Kumar Saran
Cerebrospinal fluid (CSF) shunt failure is commonly associated with infection or mechanical obstruction of the shunt system. A 4-year-old male child who had undergone multiple shunt revisions at another hospital for congenital hydrocephalus and later for shunt obstruction, presented with exposed shunt at the supraclavicular region. Shunt revision was performed. The CSF culture showed no growth; however, the histopathological examination of shunt tube showed Aspergillus growth inside the lumen of silicone tube well away from the tip of ventriculoperitoneal shunt...
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28553390/a-neonate-with-x-linked-lissencephaly-with-ambiguous-genitalia
#17
Priyanka Minocha, Anita Choudhary, Shambhavi, Sadasivan Sitaraman
X-linked lissencephaly with ambiguous genitalia is a rare and recently described syndrome. We report a neonate presenting with the classical features of the syndrome which includes lissencephaly, agenesis of the corpus callosum, intractable epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. The baby was managed aggressively with antiepileptics. Early clinical suspicion of the syndrome can prevent future such occurrences in the family through genetic counseling.
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28553389/sandhoff-disease-without-hepatosplenomegaly-due-to-hexosaminidase-b-gene-mutation
#18
Vykuntaraju K Gowda, Raghavendraswami Amoghimath, Varun M Srinivasan, Maya Bhat
Sandhoff disease is a neurodegenerative disease caused due to deficiency of hexosaminidase (HEX) A and B. A 1-year-old male child presented with regression of milestones, exaggerated startle response, decreased vision, and seizures from 6 months of age. The child had coarse facies without hepatosplenomegaly. Serum levels of β hexosaminidase total (A + B) were low. Genetic testing for Sandhoff disease revealed a homozygous missense variant on HEXB gene. The case is presented to highlight that the absence of hepatosplenomegaly should not restrain in suspecting Sandhoff disease...
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28553388/penetrating-vertebral-and-spinal-trauma-complicated-by-meningitis-in-a-2-year-old-child-a-rare-clinical-case
#19
Larkin Igor Ivanovich, Larkin Valery Ivanovich, Aleksandr Sergeevich Preobrazhensky
The selection of a treatment approach for a 2-year-old child with penetrating vertebral and spinal trauma, complicated by meningitis, is presented here. This pathology occurs rather rarely, which complicates the development of a uniform approach for the management of such patients. After surgical treatment of the wound in the lumbar region at L5-S1 level due to trauma, the leakage of a transparent discharge had been observed, the nature of which was unclear; it was considered at this treatment stage to be injury to the right ureter...
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28553387/case-of-atlantoaxial-dislocation-with-assimilated-c1-absent-posterior-c2-butterfly-c3-and-fused-subaxial-cervical-spine-management-dilemma-with-multiple-segmentation-and-formation-defects
#20
Arsikere N Deepak, Pravin Salunke, Rajeev P Kamble
Segmentation defects are often seen with congenital atlantoaxial dislocation (AAD) though an associated absence of posterior arch of C2 and butterfly C3 is rare. Apart from rarity, the combination of formation and segmentation defects adds to the management dilemma. We report a case of AAD with assimilated atlas, absent C2 posterior arch, C3 butterfly vertebra with floating posterior elements, and fused C4-C6. The child was managed by C1-C2 fusion alone with immediate symptomatic improvement. The presence of formation defects such as adjacent butterfly vertebra and absent posterior elements does not alter the management of AAD...
January 2017: Journal of Pediatric Neurosciences
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