HECW2 Gene Mutation: A Rare Cause of West Syndrome: A Case Report.

Exome sequencing has opened a pandora of de novo mutations associated with infantile epileptic encephalopathies. Triad of floppiness, tonic eye deviations, and infantile spasms in an infant with dysmorphic features may provide clinical clue toward the diagnosis of HECW2 mutation, which are associated with developmental delay and early onset epilepsies. We describe an infant with a pathogenic HECW2 gene variation who presented with excessive floppiness, global delay, tonic eye deviations, and epileptic spasms treated with a combination of adrenocorticotropic hormone and modified Atkin's diet.

Efficacy of repetitive transcranial magnetic stimulation (rTMS) therapy in children with drug refractory focal epilepsy - A randomized trial.

Background: Low frequency repetitive transcranial magnetic stimulation (rTMS) can suppress local neural circuits beyond the stimulation period and can be a potential treatment option for focal epilepsy. This study analysed the short-term effect of rTMS on seizure frequency, EEG, behavior, and cognition in children with drug refractory focal epilepsy (DRFE).

Methods: This is a single center, randomized double-blind sham controlled clinical trial (CTRI/2019/02/017,440).

POLR3-Related Leukodystrophy: A Case Series from the Indian Scenario.

POLR3-related leukodystrophy is a spectrum of hypomyelinating leukodystrophy caused by biallelic POLR3A, POLR3B, POLR1C, and POLR3K variants. This series of case reports aims to provide a concise overview of the spectrum of rare hypomyelinating leukodystrophy caused by POLR3 variants and adds to the existing knowledge regarding clinical details of a rarer subset caused by POLR1C variant. A retrospective review of four cases in the POLR3-related leukodystrophy spectrum was done.

Thalamic volumetric analysis in Developmental and/or Epileptic Encephalopathy with Spike Wave Activation in Sleep (D/EE-SWAS): A cross-sectional study.

Objectives: This cross-sectional study compared the thalamic volume (TV) of children with Developmental and/or Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS) with age matched children with well-controlled epilepsy(WCE).

Methods: An unaided eye assessment of T1-weighted brain MRI sequences and quantitative volumetric analysis through "volBrain" online software was performed in children (5-12 years) with steroid-naïve D/EE-SWAS {spike-wave-index(SWI) in sleep≥50 %} and typically developing children with WCE (seizure-free period ≥1-year). The absolute and relative thalamic volume (ATV/RTV) (RTV: thalamic volume as percentage of the total intracranial volume), were compared between the two groups.

Ultrasound as a Diagnostic Tool in Detection of Maxillofacial Fractures at Level 1 Trauma Centre ED in India.

Background: Injuries, especially maxillofacial fractures, pose a significant global health burden exacerbated by increasing traffic activities. Early detection is vital for preventing complications. This study assesses ultrasound's diagnostic efficacy, aiming to improve patient management and minimise treatment delays by detecting maxillofacial fractures promptly and accurately.

Clival Chordoma Presenting as Airway Obstruction in a Neonate With Tuberous Sclerosis and Good Response to sirolimus.

We report the case of a 50-day-old infant with a nasopharyngeal mass causing respiratory distress at birth. Imaging revealed a mass from the clivus and features indicative of tuberous sclerosis complex (TSC), including cortical tubers and subependymal nodules. The mass was surgically excised, with histopathology confirming chordoma.

Acquired Demyelination Syndrome in Children and Adolescents: 10 Years Experience from a Tertiary Care Centre in North India.

Background: The childhood central nervous system (CNS) acquired demyelinating syndromes (ADS) can be monophasic or recurrent, with both having considerable overlap in the first decade of life.

Objectives: The objective of the study was to describe clinical and radiological features, immunological characteristics, response to therapy and difference between monophasic and first episode of recurrent disorders of pediatric-onset CNS ADS.

Methods: Case records of all patients presenting with CNS ADS to the Department of Pediatrics between January 2009 to December 2018 were retrospectively reviewed.

Hypertrophic Olivary Degeneration: Deafferentation With a Difference on FDG PET/CT.

We present a case of 12-year-old boy evaluated in view of refractory ascites in whom 18 F-FDG PET/CT incidentally revealed hypermetabolism in the medulla that was proven to be hypertrophic olivary degeneration on MRI.

Clinico-Radiological and Genotypic Spectrum of Nuclear Mitochondriopathies.

Mitochondrial disorders are a diverse group of diseases caused by mutations in genes encoded by either nuclear or mitochondrial DNA. In a group of patients with nuclear mitochondriopathies, the authors analysed the clinico-radiological and genotypic spectrum. The study included 25 patients with a genetic diagnosis of nuclear mitochondrial cytopathy who were seen over a 5 y period.

Paroxysmal Sympathetic Hyperactivity in Childhood Tuberculous Meningitis: A New Association.

Background: We sought to estimate the prevalence and clinical characteristics of paroxysmal sympathetic hyperactivity (PSH) in childhood tuberculous meningitis.

Methods: Hospital records of children (6 months to 14 years) with tuberculous meningitis were retrospectively analyzed from September 2019 through January 2022. In September 2019, the first case of paroxysmal sympathetic hyperactivity in tuberculous meningitis was identified in our division.

'Remote inhibition' of motor cortex in Epileptic encephalopathy with spike-wave activation in sleep (EE-SWAS): A TMS based cortical excitability study.

Objectives: The study compared real-time motor cortex excitability using transcranial magnetic stimulation (TMS)-derived parameters between children with epileptic encephalopathy with spike-wave activation in sleep (EE-SWAS) and age-matched neurotypical controls. The EE-SWAS group received steroids as standard of care and were longitudinally followed for three months.

Materials & Methods: Children aged 5-12 years with immunotherapy-naive EE-SWAS (spike-wave-index≥50 %) and neurotypical controls were enrolled.

Evaluation of Infantile Brachial Plexopathy Using 3T MRI and High-Resolution Ultrasound: Experience From a Tertiary Care Centre.

Background: Currently, clinical assessment is the main tool for the evaluation of brachial plexus injury, complemented by electrophysiologic studies (EPS), and imaging studies whenever available. Imaging plays an important role as it enables the differentiation of pre-ganglionic and postganglionic injuries, and adds objectivity to presurgical evaluation.

Objectives: The primary objective was to evaluate the utility of magnetic resonance imaging (MRI) and high-resolution ultrasonography (USG) in the localization and characterization of brachial plexus injury in infants.

NDUFV1-Related Mitochondrial Complex-1 Disorders: A Retrospective Case Series and Literature Review.

Background: Pathogenic variants in the NDUFV1 gene disrupt mitochondrial complex I, leading to neuroregression with leukoencephalopathy and basal ganglia involvement on neuroimaging. This study aims to provide a concise review on NDUFV1-related disorders while adding the largest cohort from a single center to the existing literature.

Methods: We retrospectively collected genetically proven cases of NDUFV1 pathogenic variants from our center over the last decade and explored reported instances in existing literature.

Correlation between Transcranial Ultrasound and CT Head to Detect Clinically Significant Conditions in Post-craniectomy Patients Performed by Emergency Physician: A Pilot Study.

Background: The main objective is to detect clinically significant conditions by transcranial ultrasound (TCS) in post-decompressive craniectomy (DC) patients who come to the emergency department.

Materials And Methods: This was a cross-sectional observational study. We studied 40 post-DC patients.

Disseminated phaeohyphomycosis due to Cladophialophora bantiana in an immunocompetent child.

A 3-year-old boy presented with acute headache, vomiting and right focal clonic seizures without history of fever, joint pain or altered sensorium. Neuroimaging showed multifocal contrast enhancing lesions with significant perilesional edema. CECT chest and abdomen showed multiple variable sized nodules in the lungs and hypodense lesion in liver with mesenteric lymphadenopathy.