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Holt-Oram syndrome is a rare congenital autosomal dominant disorder caused by a mutation in the TBX5 gene. It is characterised by upper limb abnormalities and congenital heart lesions, such as Atrial Septal Defect (ASD), typically affecting children. In this case, a sixyear-old boy presented with facial puffiness and decreased urine output following an upper respiratory infection. Upon examination, he was found to have Holt-Oram syndrome, a rare genetic disorder characterised by abnormalities in the bones of the upper limbs and congenital heart defects. He developed acute Post Streptococcal Glomerulonephritis (PSGN) following a streptococcal infection, resulting in persistent hypertension. Each condition independently poses significant health challenges, and their simultaneous occurrence complicates the clinical picture considerably. Following detailed investigations and management, the child required continued treatment with two antihypertensive medications upon discharge. The need for dual therapy in a paediatric patient highlights the severity of his condition and the challenges in managing it effectively. Close follow-up is essential to monitor disease progression and ensure optimal outcomes. This case features both a genetic disorder (Holt-Oram syndrome due to a TBX5 gene mutation) and an immune-mediated renal disease (PSGN), representing a rare intersection of genetic and postinfectious pathologies. The co-existence of these two conditions is unusual and complicates the clinical picture, necessitating a tailored approach to management. This case underscores the need for a multidisciplinary approach involving cardiology, nephrology, and genetics. Coordinated care is crucial for monitoring disease progression, managing complications, and ensuring comprehensive treatment. [ABSTRACT FROM AUTHOR]

Background: About 70% of all perinatal deaths and 50% of all infant deaths in India are attributed to low birth weight (LBW). In this study our aim was to study correlation between foot length, gestational age and other anthropometric measurements to identify LBW or preterm infants without exposing them by unwrapping. Method: Neonates (within 1-5 days of life) admitted to the Neonatal Intensive Care Units and Postnatal Care wards were screened. New-borns of different gestational age and weight for gestational age, excluding those born with congenital anomalies/birth defects and with skeletal deformity of foot. Details of history were taken and clinical examination was done. Anthropometric measurements (birth weight, crown heel length, head circumference, foot length) were taken within 5 days of life and by using standardised methods. Gestational age assessment was done using New Ballard's score. Results: We found a significant correlation of foot length with various parameters of new-borns including gestational age, birth weight, crown heel length, head circumference in this study. Given the value of foot length, birth weight can be predicted by the formula, Birth weight (Kg) = -3.78 + 0.871*foot length. There is also a significant correlation between gestational age and foot length. If the value of foot length is known, gestational age can also be predicted. Conclusion: In this study we found that foot length is strongly correlated with the gestational age, birthweight and other anthropometric parameters of the new-born. Therefore, foot length can be a reliable substitute for determining the gestational age and birthweight of the new-born. [ABSTRACT FROM AUTHOR]

Atypical Haemolytic Uraemic Syndrome (aHUS) is a rare type of thrombotic microangiopathy that occurs without Shiga toxin producing bacteria. It is a condition related to complement regulation, which may be genetic or acquired. The complement system’s alternative pathway is commonly implicated, with around 6-10% of cases being caused by autoantibodies directed against factor H. While it typically affects children between 9 to 13-years-old, it can also occur in adults. Many patients do not have circulating Complement Factor H-related proteins 1 and 3 due to a homozygous deletion involving CFHR1 and CFHR3. Authors hereby report a case of a six-month-old female child who was diagnosed with Ventricular Septal Defect (VSD) at one and a half months of age. She presented with pneumonia and subsequently developed haemolytic anaemia with thrombocytopenia, oliguria, and acute kidney failure. She was diagnosed with Antifactor H antibody-mediated HUS. She was treated with plasma therapy, but the patient succumbed due to multiorgan dysfunction. [ABSTRACT FROM AUTHOR]

Fetus in fetu was first identified in the early 19th century by Meckel. It is a rare congenital anomaly which occurs from anomalous embryogenesis in which a malformed parasitic twin is found within the body of the normally developed host. In most cases, the parasitic twin is anencephalic and usually contains a vertebral column and budding limbs. The upper limbs are less developed than lower limbs, and are usually located in the abdomen of the autosite. Diagnosis is often made preoperatively with ultrasonography, plain radiography, computed tomography, or magnetic resonance imaging. Histopathological findings confirm the diagnosis and the recommended treatment is complete surgical excision of mass. We report a case of 15-month-old baby boy of Nepalese origin referred to our hospital with mass in abdomen diagnosed during neonatal period. [ABSTRACT FROM AUTHOR]

Central nervous system infections are common pediatric emergencies with significant morbidity and mortality. While specific infectious etiological agent being investigated and established which takes time and technical expertise, often empirical anti bacterials are started. Escalation and de-escalation follow depending on the microbiological workup, culture positivity. Knowledge of pharmacokinetic/pharmacodynamic principles of commonly used antibacterial drugs helps selection, proper dosage and duration and enables antibacterial stewardship. Different age groups of children have predictable pattern of infectious agents on epidemiological and previous microbiological work up. Forty children with aseptic meningitis/ viral meningoencephalitis with median age 15 months (95% CI 6.7 to 31.9 months) and range 1 month to 11 years are studied. There is no significant difference in the proportion of males 62.5% (95% CI 45.8 to 77.3%) and females 37.5% (95% CI 22.7 to 54.2%). All the children received Ceftriaxone I.V in a dose of 50 mg/kg 12th hourly (100 mg/kg/d). The serum and CSF Ceftriaxone levels observed are after a mean number of doses of 2.2±0.9 (range: 1 to 4 doses). [ABSTRACT FROM AUTHOR]

Introduction: Type 1 diabetes mellitus (T1DM) is a chronic autoimmune disease that results from the destruction of pancreatic beta cells, leading to insulin deficiency. It is one of the most common chronic diseases in childhood, with an increasing incidence worldwide. Material and methods: Present Observational study was conducted at Department of Paediatrics, Dr.D.Y.Patil Medical College, Pimpri, Pune. Data was collected through medical record review and questionnaires completed by patients and their caregivers. The data collected included demographic information, clinical features, laboratory results, and treatment history. Results: In the present study, there were 6 (14.3%) diabetic children, 4 boys (16%) and 2 girls (11.8%) are products of third degree consanguineous marriage. The age of onset of Type 1 Diabetes mellitus in <6 year olds is 28.6%, in 6-10 year age group 54.8% and in children greater than 10 years, it is 7 percent. Polyuria, polydipsia and abdominal pain were the commonest symptoms observed in 38 (90.5%), 23 boys and 15 girls, 31 (73.8%), 18 boys and 13 girls and 30 (71.4%), 20 boys and 10 girls respectively. Altered sensorium was serious symptom observed in 4 boys and 3 girls, total 7 (16.7%). Fever in 17 (40.5%), vomiting in 16 (38.1%) and polyphagia in 15 (35.7%) were other important symptoms. Conclusion: Type 1 Diabetes Mellitus is one of the common chronic autoimmune disease in children, with rising prevalence in India, leading to major complications. [ABSTRACT FROM AUTHOR]

The article discusses the District Residency Program (DRP) for postgraduate medical students in India. The program aims to involve students in public health care and provide them with hands-on experience in district hospitals or rural hospitals. The article presents the perceptions of students and faculty regarding the program. Some students reported positive experiences, such as increased confidence and improved clinical skills, while others faced challenges such as lack of teaching and difficulties with travel and accommodation. The article suggests that better coordination and communication among stakeholders, as well as improvements in facilities and resources, could enhance the implementation of the program. [Extracted from the article]

Introduction: Human milk banking (HMB) is a service established for collection, screening, processing, storage, and distribution of donated human milk. HMB is the best way of ensuring a safe supply of human milk to all the needy neonates. It helps to decrease infections, neonatal sepsis, and necrotizing enterocolitis, thus reduces neonatal morbidity and mortality. Methodology: This is a short-term student research project conducted as an observational, comparative, cross-sectional study. It was conducted in the neonatal intensive care unit (NICU) and HMB of a tertiary care hospital in a metropolitan city, conducted after approval from the Ethics Committee of the Institute. A total of 50 neonates from the NICU who had received pasteurized donor human milk (PDHM) were enrolled in one group (Group I – PDHM). The data of 50 newborns from NICU of the same institute were also collected retrograded for comparison before the establishment of HMB, as they had not received PDHM and enrolled in another group (Group II – non-PDHM). Results: It was observed that in Group I (PDHM), 55% of neonates were full term and 42.5% were preterm, and in Group II, 45% were full terms and 57.5% were preterm. Sepsis was seen in 30% of Group 1 and 54% of Group 2 and hyperbilirubinemia was seen in 22% of Group 1 and 42% of Group 2. There was a 24% decrease in sepsis and 20% decrease in hyperbilirubinemia in PDHM group. Mortality was seen in 40% of Group 1 and 60% of Group 2. A decrease in mortality was seen in PDHM group. Conclusions: HMB is imperative for the reduction of neonatal morbidity and mortality. It is a feasible, cost-effective option and a boon for neonates, particularly in developing countries like India. [ABSTRACT FROM AUTHOR]

Sjögren's (SHOW'-grenz) syndrome is a systemic autoimmune, rheumatic disease that affects the entire body. The most common problems are dry mouth, dry eyes, fatigue and musculoskeletal pain in adults. Ten times as many women as men are diagnosed with Sjögren's. While most often diagnosed in women during middle age or after menopause. The congenital heart block (CHB) is defined as the heart block that is diagnosed in fetus (in utero) or within the first 28 days after birth (neonatal period). Congenital heart block is a rare disorder that appears to affect males and females in equal numbers. The most common cause of congenital heart block (CHB) is neonatal lupus due to maternal Sjögren's syndrome, an acquired autoimmune disease caused by transplacental transfer of maternal antibodies to the fetus. Several studies have reported an increased rate of spontaneous abortion and fetal loss associated with Sjögren syndrome. Congenital heart block occurs in a frequency of 1 in 20,000 live births. It has been reported to occur in 2% of Ro-positive mothers [2]; 5% of mothers with a diagnosis of mixed connective tissue and/or Sjögren Syndrome [3] and in 8% of Ro-positive mothers. Here we present an early pre-term neonate that was admitted to neonatal intensive care unit for bradycardia with stable haemodynamics. The mother, who showed no clinical symptoms or any particular history, was transferred to our tertiary centre for profound fetal bradycardia on recent scans. At birth, the infant's ECG showed a third-degree atrioventricular block and echocardiography was normal. Cardiac neonatal lupus was confirmed with positive maternal anti-Ro antibodies. Under close monitoring, the infant tolerated the bradycardia well (median 72 beats per minute (bpm)) and was discharged on day 21 of life. There was no indication for pacemaker at discharge, but he would be on regular follow-up with a paediatric cardiologist. [ABSTRACT FROM AUTHOR]

This case report represents an infant who presented with typical clinical and biochemical features of ISH with a progressive and disabling joint pain and contractures leading to eventual death at age the of 6 months from severe chest infection and diarrhea.ISH is a rare autosomal recessive disease that involves deposition of hyaline material in multiple tissues throughout the body, resulting in joint contractures, subcutaneous nodules, diarrhea, and growth failure.ISH typically presents between birth and 6 months of age. It is equally common in males and females. While described in many ethnic groups, it has most commonly been seen in children of Turkish, Indian, and Moroccan descent. ISH being autosomal recessive disorder, awareness has to be raised to by explaining the risk of recurrence in future siblings being 25%. Prenatal diagnosis is possible by fetal DNA analysis at around 12 to 16 weeks of pregnancy. To conclude, the prognosis of ISH is poor and most treatments have not proved beneficial. Physical therapy and nutritional support may improve quality of life. Awareness and early diagnosis of the disease, recognition that joint contractures are painful, and control of pain will lead to decreased invasive testing and increased patient comfort. Correct diagnosis of disease using clinical findings and genetics studies are important for family planning and counseling. [ABSTRACT FROM AUTHOR]

Diabetic ketoacidosis (DKA) is a critical metabolic complication observed in newly diagnosed cases of type 1 diabetes. Severe hypertriglyceridemia, diagnosed in this case, is a rare consequence of DKA. A six-year-old female child presented to the casualty with drowsiness, reduced oral acceptance, difficulty in breathing, hyperglycemia for the past four hours, and polyuria for the past two and a half months. On examination, tachypnea and Kussmaul breathing were present, and the patient was drowsy and confused with a Glasgow coma scale score of 12/15. Grossly lipemic serum was obtained during routine sampling with deranged international normalized ratio (INR), severe hypertriglyceridemia, and refractory metabolic acidosis. According to the International Society for Pediatric and Adolescent Diabetes (ISPAD) guidelines 2023, maintenance fluids were administered intravenously as per blood sugar levels with potassium supplementation, including a deficit of 10%. Insulin was given intravenously at 0.1 IU/kg with a broad-spectrum antibiotic., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Arora et al.)

Dyggve-Melchior-Clausen (DMC) disease, also known as DMC syndrome, is a rare, progressive genetic disorder that is characterized by skeletal and intellectual abnormalities. The case report involves a four-year-old male child presenting with marked short stature, intellectual disability, coarse facies, and microcephaly. Initial investigations, including blood tests and radiological evaluations, prompted further genetic testing via whole-exome sequencing. This identified a homozygous mutation in the Dymeclin ( DYM ) gene, implicating DMC disease. The condition usually poses diagnostic challenges due to overlapping clinical features with Morquio syndrome. This case highlights the importance of a comprehensive diagnostic approach and genetic testing in elucidating the underlying genetic etiology of complex presentations in pediatric patients., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Chavan et al.)

Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by severe short stature, small hands and feet, joint stiffness, eye abnormalities such as microspherophakia, ectopia of lenses, severe myopia, glaucoma, and heart defects. This case study describes a nine-year-old female child with WMS syndrome type 2 and heterozygous pathogenic variant p.Gly1754Ser in the fibrillin-1 gene, identified on whole exome sequencing. Two individuals with WMS with the p.Gly1754Ser variant have been previously reported in the medical literature. The present case is the fourteenth case of WMS type 2 with fibrillin-1 gene mutation in the medical literature, to the best of the author's knowledge., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Ethics Committee of Dr. D.Y. Patil Vidyapeeth, Pune issued approval DYPV/EC/612/2020. The present study has been approved by the Institutional Ethics Committee and is in accordance with the ethical principles of the Helsinki Declaration. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Tamhankar et al.)

Infantile hypertrophic pyloric stenosis (IHPS) is a condition typically characterized by hypertrophy of the pylorus, leading to gastric outlet obstruction and forceful, nonbilious vomiting in young infants. This case series reports two infants with IHPS who exhibited metabolic acidosis, deviating from the classical biochemical presentation of hypochloremic, hypokalemic metabolic alkalosis. The unusual occurrence of metabolic acidosis in these cases suggests the possibility of alternative or additional pathophysiological mechanisms at play. Such deviations from the expected biochemical profile highlight the complexity of IHPS and the need for a broader diagnostic perspective., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Shaligram et al.)

Cystic fibrosis (CF) is a genetic disorder that affects various bodily organs, predominantly the pulmonary and gastrointestinal systems. Identifying CF at an early stage can pose a significant challenge, especially when symptoms manifest unusually. The following case study depicts an exceptional and atypical instance of CF in a neonate. A male infant aged 4 months exhibited symptoms such as failure to thrive (FTT), inadequate weight gain, feeding difficulties, slight developmental delay (presence of head lag), and sporadic irritability. The patient experienced an uncomplicated prenatal and postnatal period. Subsequently, the patient suffered from recurring infections and a notable inability to gain weight. Initial tests, encompassing assessments of liver functionality and metabolic processes, yielded inconclusive results. A genetic assessment pinpointed a detrimental cystic fibrosis transmembrane conductance regulator ( CFTR ) gene mutation on Exon 8, thereby confirming the presence of CF. This analysis underscores the importance of considering CF even in the absence of typical indications. Timely and precise identification through genetic analysis is imperative for effective treatment and enhanced prognoses among individuals with CF., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Malwade et al.)

Background Neurodevelopmental disorders (NDDs) encompass intricate interactions among genetic, brain, cognitive, emotional, and behavioral processes. These disorders, which are influenced by hereditary and environmental factors, impair personal, social, intellectual, or occupational functioning. Typically emerging early in life, NDDs include conditions such as attention deficit hyperactivity disorder (ADHD), intellectual disability, autism spectrum disorders (ASDs), vision and hearing impairments, motor disorders, and specific learning disabilities. Children from impoverished and low-income neighborhoods are particularly vulnerable. The lack of comprehensive health data and public awareness about these conditions results in limited information regarding the prevalence of neurological illnesses in developing countries. India, with its large and ethnically diverse population, exemplifies this gap. Methods It is a prospective study to detect the prevalence and risk factors of neurodevelopmental disorders in children aged six months to nine years at a tertiary care center. Patient details, clinical findings, and relevant history were recorded on a pre-designed pro forma and analyzed statistically. Results Among the 1000 children in the study, 91 (9.1%) tested positive for NDDs. Among the 91 children who tested positive for NDD, the highest frequency is in the three to four years age group (17.6%), males were found to be in a higher ratio with 75.82%, with the male: female ratio being 3:1. Among the 91 children with NDD, intellectual disability was the most common disorder (20.9%), followed by ADHD (17.6%) and vision impairment (14.3%). Autism spectrum disorders, including autism and Asperger syndrome, and communication disorders, including stuttering and speech disorders, accounted for 13.2% each. Hearing loss was seen in 9.9% of children and multiple disorders were seen in 8.8% of the children from among 91 children. Conclusion Neurodevelopmental disorders are common and often coexist with other conditions. Children from low-income backgrounds are more affected. This study provides valuable insights into the prevalence and characteristics of NDDs in a specific population., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Dr. D.Y. Patil Medical College, Hospital and Research Center, Pune issued approval IESC/PGS/2022/37. Animal subjects: All authors have confirmed that this study did not involve animal subjects or tissue. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Bahal et al.)

Anti-glomerular basement membrane (GBM) nephritis is a rare autoimmune condition involving the glomerular basement membrane of the kidneys. This case report describes an 11-year-old female who presented with edema, decreased urine output, and altered sensorium, progressing to hypertension and requiring emergent hemodialysis. A renal biopsy showing Immunoglobulin G (IgG) linear deposits confirmed the diagnosis. The patient was treated with intravenous methylprednisolone and antihypertensives and then scheduled for regular dialysis. This case underscores the critical need for early diagnosis and aggressive management to prevent severe complications in pediatric anti-GBM disease., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Kale et al.)

Background Dengue is one of the most common vector-borne diseases in India, and it is transmitted by Aedes family mosquitoes. Hepatic injury is known to occur from dengue infection. Direct hepatotoxicity and deranged host immune responses to the virus are responsible for this hepatic dysfunction. Hence, the study was undertaken to understand the deranged hepatic enzymes using liver function tests (LFTs) and the severity and outcome of dengue fever in children. Methods This study is an observational-descriptive study conducted between June 2022 and May 2024. The study population includes children between the ages of one month and 16 years who have been diagnosed with dengue fever and admitted to pediatric wards and pediatric intensive care units (PICUs), with a sample size of 151. Informed consent from guardians and institutional ethical clearance were obtained. Results A total of 4.8% (N = 7) mortality was seen in this study with dengue patients. Hepatomegaly was seen in 34% (N = 49) of cases. There is a clear statistical significance that is seen among the non-survived and survived dengue patients with a 10-fold increase in serum glutamic-oxaloacetic transaminase (SGOT) and serum glutamic pyruvic transaminase (SGPT) levels, respectively, along with total bilirubin, activated partial thromboplastin time (APTT), and prothrombin time (PT). Conclusions The current study shows that deranged LFTs are associated with more severe disease with more PICU admissions and mortality of the disease. The evidence clearly indicates the inclusion of LFTs as a routine investigation to understand the severity of the disease and the prognosis of the outcome., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Institutional Ethics Sub-Committee of Dr. D. Y. Patil Medical College, Pune, issued approval IESC/PGS/2022/29. Animal subjects: All authors have confirmed that this study did not involve animal subjects or tissue. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Avuthu et al.)

Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive genetic disorder marked by eczema, thrombocytopenia, and immunodeficiency. The associated immune dysregulation increases the risk of autoimmune disorders and lymphoid malignancies. WAS results from mutations in the WAS protein gene on the short arm of the X chromosome. Here, we present the case of a seven-month-old male, born to non-consanguineous parents with no significant birth or family history. The child had height, weight, and head circumference below the third percentile for age and presented with recurrent mild upper respiratory infections, mild eczema, and thrombocytopenia. Despite symptomatic treatment and clinical improvement, platelet counts continued to decline. A provisional diagnosis of immune thrombocytopenia was made, and intravenous immunoglobulin was administered, which halted the downward trend but did not improve platelet counts. Autoimmune testing revealed strong positivity for antinuclear antibodies (ANA). Given the early-onset thrombocytopenia, anemia, and failure to thrive, autoimmune lymphoproliferative syndrome was suspected. However, T cell subset analysis was normal. A bone marrow biopsy suggested myelodysplastic syndrome or myeloproliferative neoplasm, but molecular studies were negative. Due to the early-onset autoimmunity and strongly positive ANA, genetic testing via whole exome sequencing confirmed the diagnosis of WAS., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Patil et al.)

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is described in females with a 46, XX karyotype and normal development of secondary sexual characteristics. The primary sexual characteristics are depicted by the congenital aplasia of the uterus and the upper two-thirds of the vagina. Based on the extent of malformations and association of extra-genital anomalies, it is categorized into type I and type II MRKH. The associated malformations seen include skeletal anomalies, renal anomalies, hearing defects, and, rarely, digital and cardiac anomalies. Herewith, we report a case of a two-year-old patient with urogenital anomalies on the left side diagnosed by imaging studies, which were suggestive of MRKH type II. For any child with urogenital anomalies with associated renal, skeletal, and hearing defects, we must suspect MRKH syndrome. The early detection of such anomalies will help in genetic counseling, management of fertility outcomes, and appropriate surgical management., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Muthu Kumar et al.)

Klinefelter syndrome (KS; XXY syndrome) is a common chromosomal abnormality associated with various physical and developmental characteristics. It rarely presents with ambiguous genitalia, a feature more typical of disorders of sex development (DSDs). Here, we describe a case of a five-month-old male infant with 47,XXY karyotype who presented with ambiguous genitalia which include bifid scrotum, small phallus, and penoscrotal hypospadias. Initial anthropometry and ultrasound evaluations were followed by hormonal and genetic analyses. Elevated follicle-stimulating hormone and low testosterone levels led to further testing, including a human chorionic gonadotropin stimulation test and karyotyping, which confirmed 47,XXY KS. This case underscores the need for thorough genetic evaluation in infants presenting with ambiguous genitalia, highlighting that KS can present with features overlapping DSDs. Comprehensive diagnostic approaches combining genetic, endocrinological, and clinical assessments are crucial for accurate diagnosis and management. This case aims to raise awareness among paediatricians about the potential for atypical genital presentations in KS and the importance of karyotype analysis in such scenarios., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Institutional Ethics Subcommittee issued approval IESC/W/159/2024. This is to certify that this case report (IESC/W/159/2024) titled “Presentation of Sex Chromosomal Disorders of Sex Development With Genital Ambiguity: A Case Report on a Rare Medical Condition” to be done by Srinija Garlapati as the first author and Shailaja V. Mane as the second and corresponding author from the Department of Pediatrics is ethically approved. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Garlapati et al.)

Recent advancements in the management of type 1 diabetes mellitus (T1DM) have significantly improved outcomes and quality of life for patients, particularly children. Technological innovations, such as continuous glucose monitoring (CGM) systems and insulin pump therapy, including hybrid closed-loop systems, have enhanced glycemic control by providing real-time data and automated insulin delivery. Ultrarapid-acting insulins and adjunctive pharmacotherapies, like sodium-glucose transport protein 2 (SGLT2) inhibitors and glucagon-like peptide 1 (GLP-1) receptor agonists, offer improved postprandial glucose management and reduced insulin requirements. Immunotherapy and beta-cell replacement therapies, including stem cell research and encapsulation devices, aim to preserve or restore endogenous insulin production. Digital health platforms and telemedicine have expanded access to education and support, fostering better self-management. Future directions in precision medicine, artificial intelligence, and microbiome research hold promise for personalized and potentially curative treatments. Collectively, these advances are transforming T1DM management, reducing disease burden, and enhancing the prospects for children with T1DM., Competing Interests: Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Bahal et al.)

Pilomyxoid astrocytoma (PMA) is a subtype of pilocytic astrocytoma (PA). PMA tends to exhibit a more aggressive course compared to PA. We present a case of a two-year-old male with a PMA in the suprasellar region who presented with developmental regression, loss of previously attained milestones such as the ability to hold his neck, walk, and talk, along with hypotonia in all four limbs. Serum cortisol and thyroid-stimulating hormone (TSH) levels were measured to rule out endocrine disturbances and were within normal limits. Magnetic resonance imaging (MRI) of the brain showed a solid lesion in the suprasellar region, extending into the pituitary and interpeduncular fossae, compressing the pituitary gland, and effacing the third ventricle, causing cerebrospinal fluid (CSF) flow obstruction and lateral ventricle dilation. The tumor appears hypointense on T1 and hyperintense on T2, with fluid-attenuated inversion recovery (FLAIR), peripheral contrast enhancement, and no calcification, consistent with PMA. The CSF analysis was negative for malignant cells. Histopathological examination revealed monomorphous bipolar and spindle cells in an angiocentric pattern with a myxoid background, without rosenthal fibers, mitoses, or eosinophilic granular bodies, consistent with PMA but not seen in PA. Immunohistochemistry showed strong positivity for glial fibrillary acidic protein (GFAP) and S100, with a Ki-67 index of 3-4%, indicating a low-grade tumor. The preferred treatment is surgical resection, but due to the tumor's deep location and potential long-term neurological effects, the parents opted against surgery. A ventriculoperitoneal shunt was placed to alleviate CSF flow, following which the child showed mild improvement in symptoms. Treatment of nonresectable astrocytomas was controversial, but gross total surgical resection offers better disease control. Chemotherapy is for patients with recurrence or where total resection of the tumor is not possible, and radiotherapy, though the long-term disease control is good, has a variable visual outcome., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Avuthu et al.)

Vanishing white matter disease (VWMD), also known as childhood ataxia with central hypoventilation, is a rare leukodystrophy that is inherited in an autosomal recessive manner. It is triggered by either traumatic brain injury or a febrile episode. The patient was a three-year-old male child who presented with complaints of fever and diarrhea for three days, along with a paucity of movements of both upper and lower limbs, with decreased tone and diminished reflexes. Previously the child had normal developmental milestones. MRI done showed T2 hyperintensities involving bilateral peri-ventricular white matter, deep white matter, and bilateral sub-cortical U-fibres in bilateral fronto-parietal region and bilateral cerebellar hemispheres. The bilateral external capsule and posterior limb of the internal capsule were also involved. All these findings were likely suggestive of leukodystrophy. Whole exome sequencing was done and a homozygous mutation of the eIF2B5 was noted, which confirmed the diagnosis of VWMD. The physician must keep in mind this diagnosis in cases of sudden motor abnormalities following any event and proceed for early management such as controlling febrile episodes with liberal use of antibiotics and antipyretics, along with prevention of traumatic brain injury or any stressful event. There is no definitive treatment. Management of these patients includes symptomatic and supportive care. Patients with this disease (VMND) have a poor quality of life as the disease progresses and eventually, death occurs., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Thakur et al.)

Background Acute kidney injury (AKI) is characterized by a sudden decline in kidney function, leading to a reduced glomerular filtration rate (GFR). This decline results in the accumulation of nitrogenous waste products in the blood, disturbs electrolyte balance, and disrupts fluid regulation. Objective To determine the etiological profile of AKI in term neonates. Methods A prospective observational study was conducted at the Neonatal Intensive Care Unit (NICU) of our tertiary care hospital and referral and teaching center. The study spanned a period of two years, from August 2022 to July 2024, and comprised a total of 78 term babies diagnosed with AKI, all of whom were enrolled after obtaining consent using a predefined proforma. The neonatal period was defined as the time from birth up to 44 weeks of postmenstrual age (PMA), encompassing a critical developmental phase in newborns. Results In our study of 78 term neonates with AKI, we found a predominant occurrence in males (53, 67.9%) and a significant proportion with low birth weights (41, 52.6%). The most common cause of AKI was sepsis or multiple organ dysfunction syndrome (MODS) (32, 41%), followed by perinatal hypoxia (14, 17.9%) and urinary tract obstructions (12, 15.3%). Urinary tract infections (UTIs) accounted for nine cases (11.5%), hypernatremic dehydration for six cases (7.6%), acute tubular necrosis for three cases (3.8%), and congenital polycystic kidney disease for two cases (2.9%). Mortality was notably high, with 20 neonates (25.7%) dying from AKI, particularly those with sepsis/MODS and perinatal hypoxia. However, conditions such as urinary tract obstructions and UTIs generally had better outcomes. The statistical analysis revealed a significant association between the underlying etiology and outcomes (p<0.001), underscoring the importance of prompt and targeted interventions for different AKI causes in neonates. Conclusion Our findings highlight the diverse etiological spectrum of AKI in term neonates and its significant impact on mortality. Early recognition, appropriate management, and targeted interventions tailored to the underlying cause are crucial in improving outcomes for neonates with AKI., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Institutional Ethics Subcommittee of Dr. D. Y. Patil Vidyapeeth issued approval IESC/294/2022. Animal subjects: All authors have confirmed that this study did not involve animal subjects or tissue. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Premkumar et al.)

Background:  Acute encephalitis refers to the clinical diagnosis of children who have a sudden onset of symptoms and show evidence of inflammatory lesions in the brain. Timely diagnosis is crucial for both lifesaving measures and the preservation of brain functions., Objective:  The objective of the study was to determine the clinical and etiological profile of acute viral encephalitis in children within a tertiary care hospital., Methods:  This hospital-based cross-sectional study was conducted in the Pediatric Intensive Care Unit (PICU) at Dr. D. Y. Patil Medical College, Hospital, and Research Centre in Pune. The study included children aged one month to 12 years diagnosed with suspected viral encephalitis. Over 22 months, from August 2022 to June 2024, 35 children who met the inclusion criteria were enrolled. Data collection involved clinical examinations, laboratory investigations, and imaging studies, following informed consent from the parents or guardians., Results: The study examined 35 patients with suspected acute encephalitis syndrome (AES) and found a male-to-female ratio of 3.4:1. Among the patients, 22 (62.85%) had a confirmed viral etiology, while 13 (37.17%) had an unknown etiology. The most common virus isolated was mumps, with school-age children most affected. The cases were concentrated in the Chikhali, Bhosari, Nigdi, and Chinchwad regions. Symptoms included fever, seizures, vomiting, and altered mental status. Low vaccination rates were observed, and the Glasgow Coma Scale (GCS) scores, shock incidence, and ventilation showed an association with mortality. Most patients required intensive care, antiedema measures, antibiotics, and antivirals. The mortality rate was 11.4%, with 17% of patients discharged with neurological sequelae., Conclusion: Causative agents such as mumps, herpes simplex virus (HSV), dengue, and many other viruses are now more prevalent than the Japanese encephalitis (JE) virus. Bad clinical course and fatal outcomes are observed in patients affected with rabies, HSV, and H1N1 influenza virus. Factors such as GCS scores, shock, and need for ventilation play a significant role in determining patient prognosis. Early detection and prompt treatment may aid in better outcomes for patients., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. The Institutional Ethics Subcommittee of Dr. D. Y. Patil Vidyapeeth, Pune, issued approval IESC/PGS/2022/25. This is to certify that the synopsis (IESC/PGS/2022/25) titled "Clinical And Etiological Profile Of Acute Viral Encephalitis In Children In Tertiary Care Hospital" to be done by Dr. Dharmagadda Amulya under the guidance of Dr. Sampada Tambolkar from the Department of MD-Pediatrics is ethically approved. Animal subjects: All authors have confirmed that this study did not involve animal subjects or tissue. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Dharmagadda et al.)

Background The etiological profile of children with bicytopenia and pancytopenia has a very wide spectrum, ranging from transient causes like infections or nutritional deficiencies to bone marrow failure syndromes. Timely diagnosis and treatment impart favorable prognosis to this entity. There is a paucity of data regarding the etiology of cytopenia in hospitalized children at a tertiary center in India. Additionally, only a few studies have discussed the possible association between the severity of cytopenia at presentation and the possible etiology. Methods This is a cross-sectional observational study analyzing bicytopenia and pancytopenia in hospitalized children. Patient details, along with clinical findings and relevant investigations, were recorded on predesigned pro forma and analyzed statistically. Results Out of 202 children, 174 (86.13%) had bicytopenia, and 28 (13.86%) had pancytopenia, with a male predominance resulting in a male-to-female ratio of 1.65:1. The commonest age group affected was pre-adolescent age group (6-12 years). The causes of bicytopenia and pancytopenia in hospitalized children in the decreasing order of frequency were infections (65.84%), benign hematological disorders (18.81%), systemic illness (10.39%), and malignancies (4.95%). The cytopenia was more severe in children with pancytopenia than bicytopenia. Conclusions Infections outweigh the other causes of bicytopenia and pancytopenia. The severity of the cell line affected can help narrow down a diagnosis of cytopenia etiologies. Most of the children with bicytopenia and pancytopenia had treatable etiology and favorable outcomes., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Dr. D. Y. Patil Medical College, Hospital & Research Centre, Pimpri, Pune - 411018 issued approval I.E.S.C./291/2022. This is certify that the synopsis (IESC/PGS/2022/35) titled "Clinical And Etiological Profile of Bicytopenia And Pancytopenia In Pediatric Patients." to be done by Dr. Gaurav Kumar under the guidance of Dr. Sanjay Chavan from Department of Pediatrics is ethically approved. The synopsis was approved by the Institutional Ethics Sub-committee in it's meeting held on 28/09/2022. Animal subjects: All authors have confirmed that this study did not involve animal subjects or tissue. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Kumar et al.)

Peripheral arteriovenous malformations (AVMs) are rare vascular anomalies characterized by abnormal connections between arteries and veins that bypass the capillary system. This case report details a three-year-old female child who presented with an enlarging swelling on her knee's medial side. AVM was diagnosed using computed tomography (CT) angiography and surgically excised. The case highlights the importance of early detection and timely intervention of AVMs to prevent complications., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Dua et al.)

Waardenburg syndrome (WS) is a rare autosomal genetic disorder characterized by oculocutaneous pigmentation defects, congenital deafness, dystopia canthorum, and a broad nasal root. It exhibits both genetic and clinical heterogeneity. This report presents a case of a 17-month-old male child who was brought to the Outpatient Department with complaints of hearing impairment and speech delay. Clinical examination revealed classic signs of WS, including iris pigmentary abnormality (brilliant blue iris), hair hypopigmentation (white forelock), dystopia canthorum, a broad nasal root, and a hypopigmented patch on the left arm. Based on the clinical features, the case was classified as WS Type I. This case underscores the importance of early recognition and diagnosis of WS for timely management and genetic counseling, particularly in pediatric patients with hearing impairment and distinctive pigmentation anomalies., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Ilyaz et al.)

Homozygous mutations in the lipopolysaccharide-responsive vesicle trafficking, beach- and anchor-containing ( LRBA ) gene lead to a syndrome characterized by early-onset hypogammaglobulinemia, autoimmunity, lymphoproliferation, and inflammatory bowel disease. This report describes a 10-year-old female who experienced three seizure episodes, including two generalized tonic-clonic seizures (GTCS) and one focal seizure, alongside septic shock. The patient had a history of recurrent respiratory tract infections, inflammatory bowel disease, multiple blood transfusions, lymphadenopathy, significant organomegaly, and hematological abnormalities, all consistent with an LRBA deficiency. This case highlights the critical need for prompt recognition and identification of LRBA gene mutations to enable timely management and improve patient outcomes., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Dua et al.)

Background Sepsis poses a critical medical challenge due to its profound systemic inflammatory response, which frequently results in organ dysfunction and high mortality rates, especially in pediatric patients. The condition requires prompt recognition and aggressive management to mitigate its severe outcomes. Methods This prospective study enrolled 248 pediatric patients admitted with sepsis to the pediatric intensive care unit (PICU) at our tertiary care center. Patients were randomly assigned to either the C-reactive protein (CRP) or procalcitonin (PCT) groups, with biomarker levels measured upon admission (hour zero) and again at 72 hours post-admission. Clinical parameters such as the need for ionotropic support, use of steroids, incidence of acute kidney injury (AKI), requirement for invasive ventilation, patient outcomes, and changes in antibiotic management were assessed based on these biomarker levels. Results Procalcitonin-positive sepsis cases demonstrated notable clinical severity compared to their C-reactive protein counterparts, showing significantly lower systolic blood pressure (p = 0.012), heightened need for ionotropic support (p < 0.0001), and more pronounced liver and renal dysfunction as indicated by elevated serum bilirubin (p = 0.001) and creatinine levels (p = 0.0058). The incidence of AKI was also higher in procalcitonin-positive cases. Despite these severe clinical parameters, there were no significant differences in the length of the PICU stay or in patient outcomes concerning discharge and mortality rates. Procalcitonin levels effectively guided antibiotic management, resulting in therapy adjustments in a substantial proportion of cases, with 67 (54%) experiencing downgrades and 33 (27%) requiring upgrades based on procalcitonin levels measured 72 hours post-admission. Conclusion Procalcitonin proves to be a valuable biomarker in assessing the severity and management of sepsis in pediatric patients. It correlates significantly with clinical parameters such as blood pressure, the need for ionotropic support, and markers of organ dysfunction., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Dr. D.Y. Patil Medical College, Hospital and Research Centre Institutional Ethics Sub-Committee issued approval I.E.S.C./290/2022. This is to certify that the synopsis (IESC/PGS/2022/34) titled "C-Reactive Protein Versus Procalcitonin As A Biomarkers Of Prognostic Importance In Sepsis In Age Group Of 1 Month 15 Years" to be done by Dr. Neha Tyagi under the guidance of Dr. Manojkumar Gulabrao Patil from Department of MD-Pediatrics is ethically approved. The synopsis was approved by the Institutional Ethics Sub-Committee in its meeting held on 28/09/2022. Animal subjects: All authors have confirmed that this study did not involve animal subjects or tissue. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Tyagi et al.)