INDIAN JOURNAL OF PEDIATRICS

Tongue Fasciculations and Upper Motor Neuron Signs in Infantile-Onset Type 2 Gaucher Disease: Correspondence
Majid A
A Study on the Emotional and Behavioral Side Effects Associated with Brivaracetam versus Levetiracetam in Pediatric Population with Epilepsy
Singh A, Anil AA, Mohan G, Chandramohan G, Ratan C, Lakshmi KP, Kumar RU and Anand V
Short Term Biologicals in Pediatric IBD
Das P, Acharyya BC and Mukhopadhyay M
Usefulness of Thymus and Activation-Regulated Chemokine for the Diagnosis of Food Protein-Induced Enterocolitis Syndrome with Sepsis-Like Symptoms in a Pediatric Patient with Trisomy 13
Hitomi H, Fujita Y, Takagi Y, Miyamoto M, Kano Y and Yoshihara S
Infantile Pyknocytosis as a Cause of Neonatal Hemolytic Anemia
Català L, Salazar JJ, Pujol M, García MJ, Escribano P, Torrent M and Moliner E
Proximal Muscle Weakness in a Toddler Due to Vitamin D Deficiency Rickets
Elwadhi A, Paharia K, Alam S, Sagar S and Kaur K
Complex Febrile Seizures: Usual and the Unusual
Whitney R, Samanta D, Sharma S and Jain P
Febrile seizures account for 2 to 14% of all childhood seizures, and one-third of febrile seizures are complex febrile seizures. Despite this, there is a lack of clinical equipoise in the diagnosis and management of complex febrile seizures and this results in significant practice variability amongst physicians. Although febrile seizures are generally noted to be benign phenomenon, complex febrile seizures carry the risk of subsequent epilepsy. Furthermore, long-term neurodevelopmental sequelae have been observed in some cohorts. The presence of both simple and complex febrile seizures have also been documented in sudden unexpected death in childhood cohorts, and there may be similarities in the underlying pathophysiology to sudden unexpected death in epilepsy. Finally, in some cases the presence of complex febrile seizures may herald the onset of a devastating developmental and epileptic encephalopathy (i.e., Dravet syndrome) or Febrile-Infection Related Epilepsy Syndrome (FIRES). In this narrative review the authors explore the current state of management of complex febrile seizures, their neurological sequelae and morbidity as well as rare epilepsy syndromes and conditions associated with them.
LPIN1-related Acute Rhabdomyolysis Mimicking Landry Guillain-Barré Syndrome in a Child: Authors' Reply
Sekhar JC and Angurana SK
Skin Lesions in Children with Pertussis Treated with Sulfamethoxazole-Trimethoprim
Yuan J, Yang Y and Zhu X
MedEClasses- Basic Pediatric Endocrinology: Anurag Bajpai (ed.) : Published by MedEClasses Publications, Kanpur, India; 2nd Edition; 2024; Pages: 365; Price: ₹ 3500
Sharma R
Hair Changes in Giant Axonal Neuropathy
Manjunathan S, Pandey A, Khanna S, Suthar R and Sankhyan N
Comparison of Hematological Indices Against Blood Culture and Biomarkers- C-Reactive Protein, Endotoxin and Endotoxin Binding Protein in Screening Late-Onset Neonatal Sepsis
Katta D, Sridharan KS, Balakrishnan U, Amboiram P, Shankar PR, Kumar PK, Dhivya G and Urmila
Acalculous Cholocystitis in Primary EBV Infection
Milas GP, Chreppas I, Issaris V and Pandita A
Alterations in Salivary Parameters, Dental Caries Prevalence and Attitude Towards Oral Hygiene Maintenance Among Children and Adolescents with Metabolic Control of Type 1 Diabetes Mellitus
Anu V, Gousalya V, Divya D, Jenisha A and Jothi R
Silent Pulmonary Involvement in Niemann Pick Disease
Ramakrishna G, Kumar K, Gulla KM and Mishra P
Low Ferritin without Anemia in Indonesian Newborns with Mothers having Second-Hand Smoke Exposure
Putera AM, Fikri B, Massi MN and Shimojo N
Infantile-Onset Epilepsies: Steering Towards New Horizons
Sahu JK and Harini C
Isolated Basal Ganglia Encephalitis in MOG-Antibody Associated Disease
Manjunathan S, Pandey A, Chidambaram AC, Vyas S and Sankhyan N
Update on Cannabidiol in Drug-Resistant Epilepsy
Singh A, Madaan P and Bansal D
Cannabidiol (CBD) has arisen as a promising therapeutic option for children with drug-resistant epilepsy (DRE). CBD has received regulatory nod from different regulatory authorities in the United States, Europe, and India for children with DRE particularly, Dravet syndrome (DS), Lennox Gastaut syndrome (LGS), and Tuberous sclerosis complex (TSC). Recent clinical trials and observational studies highlight the potential of CBD to lower seizure frequency and provide better quality of life in children affected by these disorders. The safety profile is generally favorable with minor common adverse events such as somnolence, diarrhea, and gastrointestinal issues. Furthermore, the expense associated with CBD remains a notable concern, especially in low- and middle-income countries such as India, where access to this promising treatment may be constrained. This draws attention to the cost-effective perspective of CBD. This review aims to explore the pharmacological properties of CBD, its mechanisms of action, and the clinical evidence supporting its use in various pediatric epilepsies, including LGS, DS, and TSC. Additionally, this review sheds light on the current regulatory landscape in India where CBD use is still in its nascent stages, and discusses the challenges and opportunities for integrating CBD into clinical practice.
Developmental and Epileptic Encephalopathies: Need for Bridging the Gaps Between Clinical Syndromes and Underlying Genetic Etiologies
Srivastava P, Bhardwaj C and Mandal K
Advancement in genetic testing has become increasingly important in diagnosing and managing developmental and epileptic encephalopathies (DEEs), a group of rare neurodevelopmental disorders characterized by early-onset seizures, developmental delay, and electroencephalographic (EEG) abnormalities. These early epileptic encephalopathies are often described as various syndromes as per their clearly defined, relatively uniform, and distinct clinical phenotypes with consistent EEG and/or neuroimaging findings. Finding the underlying molecular mechanisms can cause a definitive change in the management strategy. With the evolving overlapping phenotypes, advent of technologies, and discovery of new genes, it is exceedingly becoming challenging to correctly characterise these disorders and plan subsequent evidence-based management. Cytogenetic microarray (CMA) and next generation sequencing (NGS) with improved data analysis pipe-lines and algorithms have revamped the diagnostic yield dramatically. However, as of now, there is a big lacuna in step-wise evaluation guideline or consensus on integration of genetic testing results with management plan. Understanding the genetic etiologies of such syndromes timely has three major implications: (1) Knowing the outcome of such a syndrome, (2) Therapeutic implications including licensing of drugs for certain forms (e.g. genetic syndromes involving ion channels) and (3) Genetic counseling, prenatal testing and choosing reproductive options in future pregnancies in such families. The focus of this review is to provide an understanding of different types of causative variants and their step-wise genetic testing approach; the most pressing clinical need and to develop an optimal diagnostic pathway for this group of patients.
Reflex Bathing Epilepsy in Early Childhood
Saini L, Gunasekaran PK, Gupta R and Joon P