Indian Journal of Neonatal Medicine & Research

Isolated Aplasia Cutis Congenita of the Lower Limb in a Newborn: A Case Report

Priyanka, Neeraj Singh, Yogesh Verma, Naveen Chander, Kapil Bhalla

Aplasia Cutis Congenita (ACC) is a rare congenital disorder characterised by a lack of skin at birth, most commonly affecting the scalp, though other body areas may also be involved. The lesions typically range from 0.5 cm to 10 cm in diameter and are usually well-defined, non-inflammatory, and devoid of epidermis and, in a few cases, dermis or deeper tissues. The exact aetiology of ACC remains uncertain, though various causative factors have been proposed, including genetic mutations, intrauterine vascular compromise, maternal infections, teratogenic drug exposure during pregnancy, fetus papyraceus, and traumatic events during delivery. This case report presents an unusual case of isolated ACC, corresponding to Group VII of Frieden’s classification, involving the unilateral lower limb of a one-day-old full-term neonate, without any associated anomalies or systemic involvement. The lesion was present at birth, sharply demarcated, and devoid of signs of infection or ulceration. Conservative local wound care and gentle debridement were performed. Remarkably, the affected area showed spontaneous epithelialisation over the following weeks, healing completely without residual scarring or the need for surgical grafting. This case underscores the importance of recognising rare presentations of ACC beyond the scalp, as well as the potential for favourable outcomes with minimal intervention in selected cases. Early diagnosis, exclusion of underlying syndromic associations, and careful monitoring are essential for optimal management and prognosis.

Early-Onset Epilepsy in Infancy Associated with Mutations in KCNQ2 and SCN8A: A Report of Two Cases

Neonatal seizures are most commonly attributed to hypoxic-ischaemic injury, metabolic abnormalities, or central nervous system infections; however, an increasing proportion of cases are recognised to have an underlying genetic aetiology, particularly when routine investigations are non-contributory. Present report is of two neonates with early-onset seizures caused by distinct monogenic channelopathies who demonstrated markedly divergent clinical courses and outcomes. The first case was a near-term female neonate who presented on day 8 of life with recurrent tonic seizures and a significant family history of unexplained infantile death in a sibling. Comprehensive evaluation revealed no metabolic or structural abnormalities. Whole-Exome Sequencing (WES) identified a heterozygous pathogenic loss-of-function variant in the KCNQ2 gene. Seizures were controlled with phenobarbital monotherapy, and the infant remained seizure-free with age-appropriate neurodevelopment at 12 months of follow-up. The second case was a term male neonate who presented on day 11 of life with focal autonomic seizure clusters. Magnetic Resonance Imaging (MRI) brain demonstrated non-specific pachymeningeal enhancement. Despite treatment with five antiepileptic drugs (AEDs), seizures remained pharmacoresistant. Genetic analysis revealed a heterozygous variant of uncertain significance (VUS) in the SCN8A gene (c.1157C>A; p.Thr386Lys) and an additional heterozygous SLC6A1 variant (c.582G>T; p.Glu194Asp). By four months of age, the infant exhibited profound global developmental delay. These cases illustrate contrasting clinical trajectories in neonatal channelopathies with similar ages at seizure onset.

Impact of Gestational Age on Weekly Weight Gain in Preterm Low Birth Weight Infants Undergoing Kangaroo Mother Care in a Tertiary Hospital: A Prospective Cohort Study

Sharlin Matin, Sudip Saha, Sayan Chatterjee

Introduction: Kangaroo Mother Care (KMC) fosters the well-being of babies by promoting temperature control, ease of breast-feeding, and strengthening the bond between mother and baby. Rarely any comparative analysis between preterm child receiving KMC of different Gestational Age (GA) groups and their subsequent weight gain has been conducted. This study tried to fulfill this gap. Aim: To observe differential weight gain in different GA groups (28-32, 32-35 and 35-37 weeks) of preterm child receiving KMC and thus establishing an association between GA and postnatal weight gain in preterm babies receiving KMC. Materials and Methods: The present prospective cohort study was done in Chittaranjan Seva Sadan College of Obstetrics, Gynaecology and Child Health, a Tertiary Hospital in Kolkata, West Bengal, India, from June 2021 to May 2022. Data on Low Birth Weight (LBW) babies weighing <2.5 kg, between the GA of 28-37 weeks, was collected from Sick Newborn Care Unit (SNCU), Neonatal Intensive Care Unit (NICU), postnatal ward and follow-up clinic over a period of one year. Sample size calculated as 242. Mothers were counselled to perform at least 1.5 hours of KMC per sitting in 3-4 sittings per day. The weights were recorded every week until the babies attained a weight of 2.5 kg. Analysis of the data was done with IBM Statistical Package for Social Sciences (SPSS) Statistics for Windows, Version 22.0. Armonk, NY: IBM Corp. 2013 and Graph Pad Prism version 5. The categorical variables were analysed with the help of required non-parametric test (viz., Anderson-Darling test) and continuous variables were analysed with the help of required parametric test (viz., Analysis of Variance (ANOVA). Repeated measures ANOVA was done to assess changes of weight gain. The level of significance was considered as 95% of confidence interval. So, p-value<0.05 was considered as statistically significant. Results: It was seen that weight gain in 28-32 weeks GA group was less in the initial 2-3 weeks compared to babies of higher GA (32-35 weeks and 35-37 weeks) group while in the later weeks (5th weeks onwards) the weight gain in this 28-32 week GA group was more than the other groups, which was statistically significant with p=0.003. Conclusion: It was observed that babies more premature, they showed lesser percentage of weight gain and daily weight gain for first four weeks of their postnatal life. But following that these smaller babies showed more weight gain compared to their counterparts.

Clinical Utility of Oxygen Saturation Index Compared with Oxygenation Index in Neonatal Respiratory Diseases: A Prospective Observational Study

KH Ashwini, Kulkarni Poornima Prakash, K Smitha

Introduction: The neonatal period is one of the most critical phases in an individual’s life. During this time, newborns undergo significant physiological changes as they adapt from the intrauterine to the extrauterine environment. Respiratory diseases in neonates are associated with an increased risk of mortality, morbidity, and adverse neurological outcomes. Hence, monitoring neonates using oxygenation indices is essential. Aim: To determine the correlation between the Oxygen Saturation Index (OSI) and the Oxygenation Index (OI) among term and preterm neonates mechanically ventilated for respiratory diseases. Materials and Methods: A prospective observational study was conducted among 80 neonates with primary respiratory diseases requiring mechanical ventilation, admitted to a tertiary care hospital in North Karnataka, India. Newborns with cardiac diseases were excluded. All neonates were monitored using a pulse oximeter for OSI and Arterial Blood Gas (ABG) analysis for OI. Pearson’s correlation analysis and Receiver Operating Characteristic (ROC) curve analysis (p-value <0.05) were used to assess the relationship between OI and OSI. Results: Out of 80 neonates, 59 (73.75%) were inborn and 21 (26.25%) were outborn, 52 (65%) neonates were preterm and 28 (35%) were term, with a male-to-female ratio of 7:3. Of 80 neonates, 48 (60%) newborns were diagnosed with Respiratory Distress Syndrome (RDS), 21 (26.25%) with Meconium Aspiration Syndrome (MAS), and 11 (13.75%) with pneumonia. About 35 (43.8%) neonates had a gestational age between 28 and 33 weeks, with RDS being the most prevalent disease in this group. The most common cause of respiratory disease among term neonates was MAS. Out of 80 neonates, 44 (55%) survived and 36 (45%) expired. OI showed a moderate positive correlation with OSI (r-value=0.444, p-value=0.01). The Area Under the Curve (AUC) value for OSI in predicting mortality was higher compared to that for OI, and both were found to be statistically significant (p-value=0.001). Conclusion: OSI, being non invasive, can be used as an alternative to OI for monitoring oxygenation in ventilated neonates with respiratory diseases. It is also cost-effective and reduces the risk of sepsis and phlebotomy-induced anaemia.

Morbidity Pattern and Immediate Outcome of Preterm Neonates Admitted to the NICU of a Tertiary Care Hospital in Central India: A Prospective Cohort Study

Dipak N Madavi, Nidhi J Mehta, Lakshmikant A Rohadkar

Introduction: Evaluating morbidity patterns and outcomes is crucial, as it provides insight into the specific health challenges faced by preterm neonates. Such data are essential for the careful tailoring of healthcare interventions and the judicious allocation of resources. Aim: To investigate the morbidity patterns and immediate outcomes of preterm neonates admitted to the Neonatal Intensive Care Unit (NICU) of a tertiary care hospital in central India. Materials and Methods: The present prospective cohort study was conducted in the NICU of Indira Gandhi Government Medical College and Mayo Hospital, Nagpur, Maharashtra, Central India, from May 2022 to April 2024. A total of 198 inborn preterm neonates admitted during the study period were included. Detailed antenatal histories, maternal risk factors, and natal histories were recorded. Gestational age was assessed using the New Ballard Score, and indications for NICU admission were documented. The collected data were entered into a Microsoft Excel worksheet, and results were presented as frequencies and percentages. Results: Of the 198 preterm neonates enrolled, 78 (39.40%) were classified as moderate preterm. The most prevalent maternal risk factor associated with preterm birth was anaemia, affecting 136 mothers (68.69%). The most common clinical presentation at admission was respiratory distress, observed in 176 neonates (88.89%), followed by seizures in 24 (12.12%). The most frequent morbidity was early-onset sepsis, present in 151 neonates (76.26%), followed by neonatal hyperbilirubinaemia in 123 (62.12%). Of the total 198 preterm neonates admitted, 167 (84.34%) survived and were discharged, while 31 died, resulting in a mortality rate of 15.66%. Conclusion: Early-onset sepsis was the most common morbidity observed among preterm neonates, followed by neonatal hyperbilirubinaemia. Morbidities such as respiratory distress syndrome, intraventricular haemorrhage, and necrotising enterocolitis showed significant associations with higher mortality rates.

Diagnostic Value of Immature to Total Neutrophil Ratio, C-reactive Protein and Clinical Parameters in Early Detection of Neonatal Sepsis: A Cross-sectional Study

Himanshu Pramod Lanje, Prasanna Avinash Parashare, Snehal Suresh Mogal

Introduction: Neonatal sepsis remains a major cause of neonatal morbidity and mortality worldwide, particularly in resource-limited settings where advanced diagnostic facilities are not readily available. The condition often presents with subtle and non specific clinical features, making early recognition and timely initiation of treatment challenging. Although blood culture is considered the gold standard for diagnosis, its delayed reporting time and limited sensitivity may hinder prompt clinical decision-making. Therefore, readily available clinical and haematological markers are essential for early identification and risk stratification of affected neonates. Aim: To explore the relationship between Immature to Total neutrophil ratio (IT ratio), C-reactive Protein (CRP), clinical features, laboratory findings and blood culture positivity for early diagnosis of neonatal sepsis. Materials and Methods: A cross-sectional study was conducted in the Neonatal Intensive Care Unit (NICU) of the Department of Paediatrics at SMBT Institute of Medical Sciences and Research Centre (IMS & RC), located in Dhamangaon, Igatpuri, Nashik, Maharashtra, India from March 2025 to August 2025, including 92 neonates with suspected sepsis. Complete blood count (CBC), I/T ratio, CRP, and blood culture were evaluated. Chi-square test, Fisher’s-exact test, and logistic regression analysis were performed. A p-value <0.05 was considered statistically significant. Results: The study included 92 neonates, of whom 25 (27.17%) were female and 67 (72.83%) were male. Blood culture was positive in 36 neonates (39.13%). Significant associations with culture positivity were observed for I/T ratio >0.2 (p-value<0.001), CRP, abnormal Total Leucocyte Count (TLC), low Absolute Neutrophil Count (ANC), and thrombocytopenia. Among clinical parameters, abdominal distension (χ2=24.85; p-value<0.001), low birth weight (χ2=19.63; p-value=0.0002), prolonged Capillary Refill Time (CRT) (χ2=9.05; p-value=0.02), direct hyperbilirubinemia (χ2=16.02; p-value<0.001), and lower gestational age (χ2=22.2; p-value<0.001) were significantly associated with culture positivity. Hyperglycaemia, hypoglycaemia, increased gastric residue, need for inotropic support, metabolic acidosis, mottling, and sclerema also showed significant associations. On multivariate logistic regression, I/T ratio, CRP, Ionotropic support, Sclerema and TLC remained independent predictors of blood culture positivity. Conclusion: For early detection of sepsis IT ratio is useful parameter along with TLC, ionotropic support, sclerema and CRP and has significant association with culture positivity.

Speech Delay among Children Aged up to 6 Years Using the Language Evaluation Scale-Trivandrum: A Cross-Sectional Study

Manivannan Geetha, Basavaraja Kiran

Introduction: Delay in language milestones is the most common developmental delay, and awareness is essential for early identification and appropriate intervention. Speech and language disorders are one of the main reasons for referral to paediatric services, accounting for about 40% of cases. Aim: The present study aimed to determine the prevalence of speech delay in the Paediatric Outpatient Department (OPD) using the Language Evaluation Scale Trivandrum (LEST) scale and to analyse the possible risk factors associated with speech delay. Materials and Methods: The present cross-sectional study was conducted in the well-baby clinic and daily Paediatric Outpatient Department of East Point College of Medical Sciences and Research Centre, Bengaluru, Karnataka, India, from January 2021 to January 2022. A total of 204 children aged 0-6 years attending the paediatric OPD were evaluated using LEST. The prevalence and association with risk factors in each age group were calculated and analysed using Statistical Package for the Social Sciences (SPSS) version 22.0. The Chi-square test was used for statistical analysis, and a p-value <0.05 was considered significant. Results: The prevalence of speech delay in the present study was present in children (19.6%). Of the total 204 children, the majority of language delay cases (20; 50%) were in the 1-5 year age group. Language delay was 1.8 times more common in boys than in girls. Most children (20; 50%) belonged to nuclear families. A total of 34 children (85%) were from monolingual households where only one language was spoken at home. Twenty-two children two-item delay, 10 had three-item delay & 8 had three-item item delayed, indicating that early identification and intervention were possible. Conclusion: Awareness and early identification are essential for better outcomes in speech delay. Simple and easy-to-administer scales like LEST are necessary for use in busy outpatient departments.