Phenotype of NDUFV1-related disease
Josef Finsterer, Sinda Zarrouk-MahjoubJournal of Pediatric Neurosciences 2019 14(3):175-176 (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - September 26, 2019 Category: Neuroscience Authors: Josef Finsterer Sinda Zarrouk-Mahjoub Source Type: research
External occipital protuberance projecting as downward curved horn presenting with intractable occipital pain: Report of a first case
Guru Dutta SatyartheeJournal of Pediatric Neurosciences 2019 14(3):173-174External occipital protuberance is normal anatomical entity, rarely it may show hyperostosis and may get prominent and causing pain and examination reveals presence of tender bony swelling. However, such occurrence is extremely uncommon. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - September 26, 2019 Category: Neuroscience Authors: Guru Dutta Satyarthee Source Type: research
Chiari Malformation Type I in a patient with a novel NKX2-1 mutation
We report the first case of a girl with a genetically identified mutation in NKX2-1 that presents with a Chiari Malformation Type 1, eventually expanding the phenotypic spectrum of NKX2-1-related disorders while also highlighting a novel heterozygous pathogenic variant at exon 3 that disrupts the reading framework, originating an NKX2-1 protein with a different C-terminal. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - September 26, 2019 Category: Neuroscience Authors: Daniel Goncalves Lara Louren & #231;o Micaela Guardiano Cintia Castro-Correia Mafalda Sampaio Miguel Le & #227;o Source Type: research
A unique pediatric case of intratumoral hemorrhage in a sporadic vestibular schwannoma
We present the first pediatric case of intratumoral hemorrhage in VS in the absence of any features of NF in an 11-year-old child who complained of holocranial headache and sensorineural hearing loss in the left ear. We further discuss the pathogenesis and clinical features, and review the literature of intratumoral hemorrhage in patients of VS. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - September 26, 2019 Category: Neuroscience Authors: Batuk Diyora Bhagyashri Bhende Nitin Kotecha Mazharkhan Mulla Gagan Dhal Naren Nayak Source Type: research
Acute cerebellitis as a rare treatable cause of obstructive hydrocephalus
We report a 10-year-old boy with Mycoplasma infection–associated acute cerebellitis and obstructive hydrocephalus that responded well to conservative management with no residual neurological deficit. Wide recognition of this treatable clinical entity among neurologist would avert unnecessary investigations and ensure rationale management. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - September 26, 2019 Category: Neuroscience Authors: Vandana Arya Virender K Gehlawat Aashima Singh Kundan Mittal Jaya S Kaushik Source Type: research
Alveolar soft part sarcoma metastasizing to the brain: A rare entity revisited with review of recent literature
Singh Mathuria Kaushal-Deep, Uday Singh Raswan, Altaf Rehman Kirmani, Abdul Rashid Bhat, Irfan Hussain BhatJournal of Pediatric Neurosciences 2019 14(3):158-161A 20-year-old male patient presented with a recent history of two episodes of seizures and Glasgow Coma Scale of E3V3M6. He was drowsy at presentation with bradycardia. On further examination, he was found to be having a 10 × 6cm well-circumscribed mass in the right medial thigh whose fine needle aspiration cytology was suggestive of soft tissue sarcoma. Contrast-enhanced magnetic resonance imaging brain showed enhancing lobulated lesions in bilateral he...
Source: Journal of Pediatric Neurosciences - September 26, 2019 Category: Neuroscience Authors: Singh Mathuria Kaushal-Deep Uday Singh Raswan Altaf Rehman Kirmani Abdul Rashid Bhat Irfan Hussain Bhat Source Type: research
Pneumothorax following bougie-guided intubation in a difficult airway: A report of two cases
Gauri R Gangakhedkar, Pallavi Gaur, Anita N Shetty, Pallavi V Waghalkar, Amit M DalviJournal of Pediatric Neurosciences 2019 14(3):154-157Patients coming for atlantoaxial dislocation surgery represent a unique subset of difficult intubation. In addition to having restricted neck movements, excessive movements at the neck joint during intubation must be avoided to avoid further compression. In view of the anticipated difficult intubation, adjuncts or introducers may be required to aid intubation, the most commonly used being bougies. Complications are known to occur with the use of bougies but fortunately the incidences are...
Source: Journal of Pediatric Neurosciences - September 26, 2019 Category: Neuroscience Authors: Gauri R Gangakhedkar Pallavi Gaur Anita N Shetty Pallavi V Waghalkar Amit M Dalvi Source Type: research
Peter plus syndrome: A neurosurgeon & #8217;s perspective
Deepak Khatri, Jaskaran S Gosal, Kuntal K Das, Kamlesh S BhaisoraJournal of Pediatric Neurosciences 2019 14(3):148-153Peter plus syndrome (PPS) is a rare, hereditary (autosomal recessive) disorder characterized by a mutation in the beta-1,3-galactosyltransferase-like gene (chromosome 13q12), which causes impaired glycosylation of several structural and functional proteins throughout the body. Clinical signs and symptoms of PPS are highly variable and include structural malformations affecting multiple organ systems including central nervous system. We aim to discuss a neurosurgeon’s perspective to PPS in this ...
Source: Journal of Pediatric Neurosciences - September 26, 2019 Category: Neuroscience Authors: Deepak Khatri Jaskaran S Gosal Kuntal K Das Kamlesh S Bhaisora Source Type: research
Coexisting spinal intramedullary and intracranial tuberculomas in an immunocompetent child
We report a case of coexisting intramedullary and intracranial tuberculoma in a 5-year-old boy who presented with fever for 12 days, progressive motor weakness in the lower limbs for 9 days, and retention of urine and constipation for 6 days. Neurological examination revealed signs of compressive myelopathy. Magnetic resonance imaging (MRI) of the spine detected IMT at D4-D5 level of the thoracic cord with perilesional edema. MRI of brain revealed a right frontal tuberculoma. Medical management with antituberculosis therapy and steroids resulted in complete neurological recovery. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - September 26, 2019 Category: Neuroscience Authors: Vaishali R Ghane Preeti Shanbag Ashish Meshram Source Type: research
Transfusion-related acute lung injury due to iatrogenic IVIG overdose in Guillain & #8211;Barre syndrome
Sanghamitra Ray, Rakesh Kumar Gupta, Deepti JainJournal of Pediatric Neurosciences 2019 14(3):140-142Transfusion-related acute lung injury (TRALI) is a transfusion-related adverse effect associated with high mortality, manifesting with acute respiratory distress and with features of non-cardiogenic pulmonary edema. It is rarely reported following intravenous immunoglobulin (IVIG) infusion and is even rarer in pediatric population. We here present a 12-year-old female child who presented as a case of acute flaccid paralysis and was diagnosed clinically as Guillain–Barre syndrome. As per protocol, she was given ...
Source: Journal of Pediatric Neurosciences - September 26, 2019 Category: Neuroscience Authors: Sanghamitra Ray Rakesh Kumar Gupta Deepti Jain Source Type: research
Porphyria: An uncommon cause of posterior reversible encephalopathy syndrome
Vinay Agarwal, Namit SinghalJournal of Pediatric Neurosciences 2019 14(3):137-139Acute intermittent porphyria (AIP) is rare and the diagnosis is often delayed. It usually presents with abdominal symptoms, behavioural changes, seizures, tachycardia, and hypertension. MRI findings are usually normal or few contrast enhancing lesions may be present. Rarely , reversible vasogenic edema is seen on MRI as T2 weighted and FLAIR hyper intensity without diffusion restriction suggestive of posterior reversible encephalopathy syndrome (PRES). Review of literature suggests that there are only few case reports of AIP associated with PR...
Source: Journal of Pediatric Neurosciences - September 26, 2019 Category: Neuroscience Authors: Vinay Agarwal Namit Singhal Source Type: research
Arginase deficiency presenting as acute encephalopathy
We present a rare case of arginase deficiency presenting as acute encephalopathy in a child. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - September 26, 2019 Category: Neuroscience Authors: Leema Pauline Cornelius Vivekasaravanan Raju Asir Julin Source Type: research
Clinical parameters, management, and outcomes of childhood traumatic brain injury in Ilorin
Conclusion: Brain injury from trauma still constitutes a significant part of childhood morbidity and mortality in our setting; these deaths are avoidable in most cases. The outlook can be better if preventive efforts are geared toward domestic and road safety campaign. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - September 26, 2019 Category: Neuroscience Authors: Ayodeji S Yusuf Nurudeen A Adeleke Habeeb K Omokanye AbdulRasheed A Nasir Oluwasegun A Kolade Source Type: research
Effects of task-oriented activities based on neurodevelopmental therapy principles on trunk control, balance, and gross motor function in children with spastic diplegic cerebral palsy: A single-blinded randomized clinical trial
Conclusion: TOA-NDT principles are more beneficial in improving the trunk control, balance, and gross motor function parameters than CPT. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - September 26, 2019 Category: Neuroscience Authors: Ajaya K Sah Gandhi Karunanithi Balaji Sahana Agrahara Source Type: research
Effectiveness of structured teaching program on knowledge regarding home care management of children with hydrocephalus and shunt among their parents
Conclusion: The study revealed that the parent-centered education was effective in improving the knowledge of parents regarding care of children with hydrocephalus and shunt. It helps them to extend the care of these children from hospital to home and hence improve their quality of life. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - September 26, 2019 Category: Neuroscience Authors: Archana Murali Kanmani Job Suhas Udayakumaran Source Type: research
