Anti-N-methyl-D-aspartate-receptor encephalitis as a harbinger of pediatric HIV infection
Divya Nagabushana, Thavasimuthu Nishamol, Kajari Bhattacharya, Jitender Saini, Ravindranadh Chowdary, Anita Mahadevan, Kiran Polavarapu, Nalini AtchayaramJournal of Pediatric Neurosciences 2021 16(4):327-331Anti-N-methyl-D-aspartate-receptor (A-NMDAR) encephalitis is the most common type of autoimmune encephalitis in the pediatric age group. It is known to be triggered by viral infections such as herpes simplex infections. However, A-NMDAR encephalitis with HIV infection is a very rare event, with cases reported mostly in adults. The current report is of a previously healthy child who presented with recurrent vomiting, irr...
Source: Journal of Pediatric Neurosciences - November 1, 2022 Category: Neuroscience Authors: Divya Nagabushana Thavasimuthu Nishamol Kajari Bhattacharya Jitender Saini Ravindranadh Chowdary Anita Mahadevan Kiran Polavarapu Nalini Atchayaram Source Type: research
FARS2 (phenylalanyl-tRNA synthetase 2) deficiency: A novel mutation associated with EEG phenotype of epilepsy of infancy with migrating focal seizures (EIMFS)
Carlos Mario Guerrero, Sonal BhatiaJournal of Pediatric Neurosciences 2021 16(4):323-326Epilepsy of infancy with migrating focal seizures (EIMFS) is a rare devastating infantile epileptic encephalopathy that is characterized by a unique electroencephalopgraphy (EEG) signature of multifocal simultaneous seizures. Although no definite etiology is understood for EIMFS, mutations in certain ion channels, are implicated. Similarly, phenylalanyl-tRNA synthetase 2 (FARS2) deficiency is a rare, autosomal recessive disorder of dysfunctional mitochondrial translation causing refractory seizures, lactic acidosis, and developmental re...
Source: Journal of Pediatric Neurosciences - November 1, 2022 Category: Neuroscience Authors: Carlos Mario Guerrero Sonal Bhatia Source Type: research
Clinical phenotype of FASTKD2 mutation
Ritesh Shah, Seema BalasubramaniamJournal of Pediatric Neurosciences 2021 16(4):319-322Mitochondrial disorders (MIDs) are frequently multisystemic in nature and cause significant morbidity and mortality. Accurate assessment of mitochondrial disease prevalence has been difficult in the past. Primary MIDs are due to mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA)-located genes. Here we report cases of two siblings who presented to the pediatric emergency department with status epilepticus. Initially, the elder sibling was treated for metabolic encephalopathy and viral encephalitis, during his admission to the ho...
Source: Journal of Pediatric Neurosciences - November 1, 2022 Category: Neuroscience Authors: Ritesh Shah Seema Balasubramaniam Source Type: research
Isolated neuropsychiatric features with non-functioning pituitary adenoma: Association or coincidence ?
We report a 17-year-old boy with non-functioning pituitary macroadenoma, who presented with depressive symptoms for 6 months, along with predominantly mood-congruent psychotic features and anterograde memory impairment. On subsequent evaluation, he was found to have subclinical abnormalities in visual field testing. His endocrinological and other ancillary investigations were normal. He partially responded to multiple antidepressants and is currently being planned for surgical intervention. Hence, clinicians need to perform neuroimaging in cases with depressive symptoms, when the course is atypical, unsatisfactory response...
Source: Journal of Pediatric Neurosciences - November 1, 2022 Category: Neuroscience Authors: Indar Kumar Sharawat Prateek Kumar Panda Source Type: research
Neuroendoscopic management of lateral ventricular neurocysticercosis presenting as Brun & #8217;s syndrome
We present a case of a 12-year-old female patient with headache, vertigo, and vomiting; magnetic resonance imaging (MRI) was suggestive of a cystic intraventricular mass in the frontal horn of the left lateral ventricle. The patient underwent endoscopic exploration for the excision of cyst with complete postoperative recovery and histopathology suggestive of intraventricular neurocysticercosis. Discussion: Brun’s syndrome is caused by a mobile deformable intraventricular mass leading to an episodic obstructive hydrocephalus resulting from an intermittent or positional CSF obstruction with elevation of intracra...
Source: Journal of Pediatric Neurosciences - November 1, 2022 Category: Neuroscience Authors: Ashish Chugh Sarang Gotecha Prashant Punia Vybhav Raghu Anil Patil Megha Kotecha Source Type: research
Anti-N-methyl-
Prateek Kumar Panda, Indar Kumar Sharawat, Sonalika Mehta, Poonam Sherwani, Nowneet Kumar BhatJournal of Pediatric Neurosciences 2021 16(4):307-310New-onset refractory status epilepticus (NORSE) is defined as a refractory status epilepticus (SE) in a patient, without a clear acute or active structural, toxic, or metabolic cause, previous active epilepsy, or preexisting relevant neurological disorder. Cryptogenic NORSE cases, often immunotherapy is considered empirically as a favorable response, have been documented in anecdotal case reports. More than half of children with the anti-N-methyl-d-aspartate receptor (NMDAR) enc...
Source: Journal of Pediatric Neurosciences - November 1, 2022 Category: Neuroscience Authors: Prateek Kumar Panda Indar Kumar Sharawat Sonalika Mehta Poonam Sherwani Nowneet Kumar Bhat Source Type: research
Extramedullary hematopoiesis presenting with thoracic spinal cord compression in a young adult with thalassemia major: A case report
Conclusion: The occurrence of EMH in the thoracic spine is uncommon, whereas symptomatic cord compression as a result of it is even more unusual. Magnetic resonance imaging (MRI) is the diagnostic imaging of choice and treatment options that can be offered are surgical decompression, radiotherapy, hydroxyurea, and transfusion of packed red blood cells (RBCs). (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - November 1, 2022 Category: Neuroscience Authors: Prasheelkumar Premnarayan Gupta Salman T Shaikh Richa Premnarayan Goyal Deepak Premnarayan Gupta Source Type: research
Mitochondrial ultrastructural defects in NDUFS3-related disorder
We describe a girl with a history of infantile-onset nonepileptic myoclonus, who developed myopathy at the age of 2 years. Next-generation sequencing revealed compound heterozygous for two variants in the NDUSF3 gene. The electron-microscopic study of the skeletal muscle showed an increase in the number of mitochondria inside the myofibers; mitochondria were variably enlarged with some irregularity and were aligned perpendicular to the myofibrils in a stacked-up manner. This is the first description of mitochondrial ultrastructural abnormality in an individual with NDUFS3-related disorder. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - November 1, 2022 Category: Neuroscience Authors: Debopam Samanta Aravindhan Veerapandiyan Thomas A Burrow Murat Gokden Source Type: research
Posterior Fossa Hematoma Following Minor Trauma in an Infant with Rare Combined Factor V and Factor X Deficiency
We report this for the first time in literature in an infant who developed acute subdural hematoma in posterior fossa leading to hydrocephalus. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - November 1, 2022 Category: Neuroscience Authors: Indrajit Rana Laxmi Narayan Tripathy Source Type: research
Thyroid hormone transporter defect: Allan Herndon Dudley Syndrome, masquerading as dyskinetic cerebral palsy
We report a child, a 21-month-old boy, who presented with developmental delay and stiffness. The child had facial dysmorphism with dystonia. MRI of the brain was normal. Thyroid profile showed low free T4, and normal TSH but high free T3. Hence, AHDS was suspected and was confirmed by targeted next-generation testing and Sanger sequencing. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - November 1, 2022 Category: Neuroscience Authors: Vykuntaraju Kammasandra Gowda Priya Gupta Sanjay K Shivappa Naveen Benakappa Source Type: research
The dysfunctional gangway: SZT2-associated epilepsy with thick corpus callosum
We report a 3-year-old girl who presented with developmental delay, dysmorphic facies, refractory seizures, and subsequent developmental regression. Despite significant multifocal epileptiform abnormalities on her electroencephalogram, she had a paucity of generalized discharges indicating a functional deficiency of corpus callosum inspite of its increased thickness seen on magnetic resonance imaging. Her clinical exome sequencing revealed a homozygous single base pair duplication in the SZT2 gene that resulted in a frameshift mutation and premature truncation of the protein. Our case emphasizes the role of SZT2 gene in th...
Source: Journal of Pediatric Neurosciences - November 1, 2022 Category: Neuroscience Authors: Ajith Cherian Kalikavil Puthanveedu Divya Harini Pavuluri Bejoy Thomas Source Type: research
Development delay in a child with microcephaly and birth asphyxia: Explore diagnosis beyond hypotonic cerebral palsy
We describe a case of a 2-year-old female child who presented as emergency with acute gastroenteritis and severe dehydration. In this patient, there was a history of severe birth asphyxia, and the developmental milestones were delayed. The child was managed as hypotonic cerebral palsy elsewhere with antiepileptic drug and nutritional supplements. However, persistent abnormal pattern of breathing after adequate hydration and noncontributory metabolic profile raised the suspicion of alternate etiology. Later, the diagnosis of Joubert syndrome was established on contrast-enhanced magnetic resonance imaging of brain with findi...
Source: Journal of Pediatric Neurosciences - November 1, 2022 Category: Neuroscience Authors: Jasbir Singh Poonam Dalal Kamal Nain Rattan Source Type: research
Case report of congenital kyphoscoliosis with myotonic dystrophy type 1: Perioperative and anesthetic considerations
The objective of this case report was to discuss the perioperative anesthetic and surgical management of such cases. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - November 1, 2022 Category: Neuroscience Authors: Arpit Agrawal Tanvi Dhawale Varinder Kaur Gouri Rao Passi Source Type: research
Leukoencephalopathy with calcifications and cysts in a child with progressive hemiparesis & #8212;A case report
We describe a case of a 9-year-old boy with progressive left hemiparesis and seizures, which on imaging showed characteristic features of LCC. We further review the neuroimaging features of LCC and its differential diagnoses. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - November 1, 2022 Category: Neuroscience Authors: Minhaj Shaikh Sarbesh Tiwari Taruna Yadav Pawan K Garg Pushpinder S Khera Source Type: research
Treatable neurodegenerative disorder: Cerebral folate transport deficiency & #8211; & #8211;two children from Southern India
In conclusion, cerebral folate transport deficiency should be suspected in every child with global developmental delay, epilepsy, ataxia and neuroimaging showing cerebellar atrophy and calcification. Response to folinic acid supplementation is partial if diagnosed late and treatment initiation is delayed. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - November 1, 2022 Category: Neuroscience Authors: Vykuntaraju K Gowda Balamurugan Natarajan Varunvenkat M Srinivasan Sanjay K Shivappa Source Type: research
