Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder.

Leucine - rich repeat containing 45 protein (LRRC45) protein localizes at the proximal end of centrioles and forms a component of the proteinaceous linker between them, with an important role in centrosome cohesion. In addition, a pool of it localizes at the distal appendages of the modified parent centriole that forms the primary cilium and it has essential functions in the establishment of the transition zone and axonemal extension during early ciliogenesis. Here, we describe three individuals from two unrelated families with severe central nervous system anomalies.

Progressive Unilateral Foot Drop in a Child due to Neuromuscular Choristoma.

An 8.5-year-old boy presented with a history of progressive unilateral foot drop. A contrast magnetic resonance imaging of the pelvic girdle and the lumbosacral plexus revealed a diffuse fusiform thickening of the right lumbosacral trunk and the sciatic nerve in the intrapelvic and gluteal regions, with findings characteristic of a choristoma.

Safety and efficacy of intra-erythrocyte dexamethasone sodium phosphate in children with ataxia telangiectasia (ATTeST): a multicentre, randomised, double-blind, placebo-controlled phase 3 trial.

Background: Ataxia telangiectasia is a multisystem disorder with progressive neurodegeneration. Corticosteroids can improve neurological functioning in patients with the disorder but adrenal suppression and symptom recurrence on treatment discontinuation has limited their use, prompting the development of novel steroid delivery systems. The aim of the ATTeST study was to evaluate the efficacy and safety of intra-erythrocyte delivery of dexamethasone sodium phosphate compared with placebo in children with ataxia telangiectasia.

Normative Values for Auditory Brainstem Responses and Wave V Thresholds in Indian Neonates and Infants.

Click-evoked auditory-brainstem-response (ABR) is widely used for hearing screening in neonates and infants. However, their normative values are based on small studies. This retrospective study was done at a tertiary-care centre where click-ABR based screening is done in all newborns.

Clinical Profile and Treatment Outcomes of Hypermanganesemia with Dystonia 1 and 2 among 27 Indian Children.

Background: Hypermanganesemia with dystonia 1 and 2 (HMNDYT1 and 2) are rare, inherited disorders of manganese transport.

Objectives: We aimed to describe clinical, laboratory features, and outcomes among children with HMNDYT.

Methods: We conducted a retrospective multicenter study involving tertiary centers across India.

Correlation of Preoperative Functional Magnetic Resonance Imaging (fMRI) with Intraoperative Cortical Stimulation in Surgeries of Eloquent Brain Lesions.

Background: Direct Cortical Stimulation (DCS) represents the gold standard for mapping of eloquent brain cortex. However, DCS is an invasive and time-consuming procedure. fMRI has become a useful tool to delineate motor and sensory eloquent cortex from the areas of planned neurosurgical resection.

Leukocyte Phosphomannomutase and Phosphomannose Isomerase Activity in an Indian Cohort.

Advances in molecular sequencing technology has increased the diagnostic yield for Congenital disorder of glycosylation (CDG). However, novel variants or those of uncertain significance (vus) often pose a challenge and in such cases confirmed diagnosis can be warranted through enzyme analysis of these defects. We thus, aimed to optimize leukocyte-based enzyme assays for first two enzymes involved in N-glycosylation pathway i.

Analytical Method Validation for Estimation of Neurotransmitters (Biogenic Monoamines) from Cerebrospinal Fluid Using High Performance Liquid Chromatography.

Biogenic amine neurotransmitters such as serotonin and dopamine are essential for signaling in both central and peripheral nervous system. Their metabolism is a multistep pathway and any defect in this results in alteration in metabolites of serotonin 5-Hydroxyindole acetic acid (5HIAA) and dopamine homovanillic acid (HVA) and 3-O-Methyl Dopa (3-OMD). Estimation of these metabolites in cerebrospinal fluid (CSF) assists in diagnosis of neurotransmitter defects.

Profile of Children With Tuberculosis in a Pediatric Intensive Care Unit in Mumbai.

Objective: This study was done to analyze the profile of confirmed pediatric TB patients seen in an intensive care setting.

Methods: Data of all children admitted in our PICU with bacteriologically proven tuberculosis (smear, culture, poly-merase chain reaction, genotypic testing or Pyrosequencing) between January, 2007 and December, 2019 were retrieved. Drug resistance was classified as per World Health Organization definitions.

Cerebrospinal Fluid Biogenic Monoamine Analysis for Diagnosis of Primary Neurotransmitter Disorders.

Biogenic amine neurotransmitters metabolism is a multistep pathway with pterin and pyridoxal phosphate (vitamin B6) as cofactors. A defect in biogenic amine and cofactor metabolism and vesicular transporters result in a primary neurotransmitter disorders. These are a well-recognized groups of inherited disorders and often present with features overlapping with other neurological conditions.

'To reveal or to conceal'- Disclosure strategies in parents of children with epilepsy in India.

Purpose: Disclosure of epilepsy is a relevant but under-researched topic in epilepsy research. This study was done to assess the disclosure strategies in parents of CWE in a developing country with conservative culture. The study also assessed the influence of demographic factors and seizure characteristics on the choice of disclosure.

Paroxysmal Nonepileptic Events in a Pediatric Epilepsy Clinic.

Aims: We aimed to study the frequency, age, and gender distribution of paroxysmal nonepileptic events (PNEs) in children referred to epilepsy clinic with the diagnosis of epilepsy. We also evaluated the therapeutic implications of correct diagnosis and co-existence of true epilepsy in this population.

Settings And Design: All new patients below 18 years attending the Pediatric epilepsy out-patient clinic of PD Hinduja hospital over 6 months were evaluated.

Prolonged Fever: An Atypical Presentation in MOG Antibody-Associated Disorders.

Background: Myelin oligodendrocyte glycoprotein (MOG) antibody-associated demyelinating disorders (MOGAD) are increasingly being recognized in the pediatric age group. Over time, unusual presentations have expanded the clinical presentation. We report 12 cases of MOGAD where prolonged fever (PF) was an important part of the symptom complex during the course of the illness.

Posterior Reversible Encephalopathy Syndrome: An Expanding Phenotype.

Udani V. Posterior Reversible Encephalopathy Syndrome: An Expanding Phenotype. Indian J Crit Care Med 2020;24(12):1163-1164.

Establishing criteria for pediatric epilepsy surgery center levels of care: Report from the ILAE Pediatric Epilepsy Surgery Task Force.

Presurgical evaluation and surgery in the pediatric age group are unique in challenges related to caring for the very young, range of etiologies, choice of appropriate investigations, and surgical procedures. Accepted standards that define the criteria for levels of presurgical evaluation and epilepsy surgery care do not exist. Through a modified Delphi process involving 61 centers with experience in pediatric epilepsy surgery across 20 countries, including low-middle- to high-income countries, we established consensus for two levels of care.

Mobile media exposure and use in children aged zero to five years with diagnosed neurodevelopmental disability.

Objective: The present study was conducted to determine the extent of exposure to and use of mobile devices by children (aged 0-60 months) with a diagnosed neurodevelopmental disability.

Design: A self-report survey-based design was employed.

Setting: Questionnaires were administered at a tertiary care hospital in Mumbai, India.

Association of Child Neurology-Indian Epilepsy Society Consensus Document on Parental Counseling of Children with Epilepsy.

When a child is diagnosed with epilepsy, counseling regarding the same is done by the treating doctor. Most parents are frightened and have poor knowledge about epilepsy. Therapeutic advice including drug dosage, administration and side effects takes up the major part of physician's time, thereby neglecting important issues like home seizure management, follow up and others.

Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients.

Background: Neurological disorders are clinically heterogeneous group of disorders and are major causes of disability and death. Several of these disorders are caused due to genetic aberration. A precise and confirmatory diagnosis in the patients in a timely manner is essential for appropriate therapeutic and management strategies.

Paroxysmal Asymmetric Dystonic Arm Posturing-A Less Recognized but Characteristic Manifestation of ATP1A3-related disease.

Background: mutations cause a wide clinical spectrum, and are one of the "commoner rare diseases".

Methods: Case series of four patients with mutations.

Results: The patients displayed characteristic episodes of dystonic arm posturing, involving a dystonic, flexed arm held in front of the body or close to the body, but with the hand raised upwards.

A Retrospective Analysis of the Long-Term Outcome of Drug-Resistant Epilepsy in Children Treated in Urban India.

Objective: To study the outcome of childhood-onset drug-resistant epilepsy.

Methods: Fifty-five patients with drug-resistant epilepsy, meeting inclusion criteria, were identified from the Pediatric Neurology Clinic database with seizure onset less than age 13 years and a minimum follow-up of 5 years. Seizure remission was defined as no more than 1 seizure/year.