Background:Intrauterine growth restriction (IUGR) is a significant contributor to neonatal morbidity and mortality, particularly in resource-limited settings. Understanding maternal and neonatal risk factors is essential for early intervention and improved neonatal outcomes. Methods:A cross-sectional study was conducted on 50 neonates diagnosed with IUGR and admitted to a tertiary care hospital's neonatal intensive care unit (NICU). Data on maternal risk factors, neonatal parameters, and outcomes, including morbidity and mortality, were collected and analyzed using SPSS version 23. Chi-square and logistic regression tests were applied to determine statistically significant associations. Results:Among the 50 IUGR infants, 10% died during hospital stay, while 26% were discharged with abnormal neurological findings. Hypoglycemia (36%) and perinatal asphyxia (30%) were the most frequent complications. Maternal malnutrition (30%) and anemia (36%) were significantly associated with neonatal mortality (p<0.05). Neonatal factors such as birth weight <2 kg, preterm status, and symmetrical IUGR were significantly associated with higher risk of mortality and morbidity.
Crigler-Najjar Syndrome (CNS) is a rare, congenital autosomal recessive disorder essentially impairing bilirubin metabolism. It is characterised by absence or decreased enzyme activity of UDP-glucuronosyltransferase due to mutation in UGT1A1 gene. This condition results in predominant indirect hyperbilirubinemia causing non haemolytic jaundice. CNS type 2 can manifest as prolonged jaundice in the neonatal period. Timely and precise diagnosis by enzyme analysis is important. Early diagnosis and adequate treatment can prevent the dangerous sequelae of kernicterus and irreversible brain damage and eventually, improve outcomes. Here, we report a rare case of possible Crigler Najjar Syndrome type 2.
A BSTRACT Background: Traumatic brain injury (TBI) is a significant global health concern and a leading cause of mortality and morbidity in children. Understanding injury patterns and outcome variables can aid in better management and improved neurodevelopmental outcomes. Methods: An observational prospective study was done over two years and the study population included children aged three months–12 years within 72 hours of head injury. Clinical profile, neuroimaging patterns, management, and outcome on discharge were analyzed. Results: Out of 95 children, the mean age was 4.66 ± 3.61 years and M/F 1.76:1. Mild TBI was seen in 70.5%, moderate TBI in 19%, and severe TBI in 10.5% of children. Fall from height was the most common mode of injury and abnormal neuroimaging was noted in 69.4% of children. Fracture skull was the most common neuroimaging abnormality found. Conservative management was the main mode of treatment, 30 children (31.6%) required intensive care, and surgical intervention was required in eight children (8.4%). The mean duration of hospital stay was 5.29 ± 6.6 days. Overall mortality rate was 2%, good outcome was noted in 88 (92.6%) and poor outcome in seven children (7.3%). The factors associated with poor outcomes were severe TBI, signs of raised ICP, abnormal neurological examination, and mode of injury by RTA. Conclusions: TBI is more commonly seen in school-aged children, accidental falls being the most common mode of injury. The majority of children had mild TBI and the overall outcome was really good. The most effective predictor of poor outcome was GCS-based TBI severity grading.
Tetralogy of Fallot physiology is a unique pathophysiology centered around the interplay of pulmonary and systemic blood flow. Pulmonary atresia with an intact ventricular septum (PA-IVS) is a rare congenital heart defect characterized by a complete blockage of the pulmonary valve, preventing blood flow from the right ventricle to the pulmonary arteries. When PA-IVS occurs with TOF physiology, it results in a unique and unusual presentation due to the overlapping physiological effects of both conditions. Typically, in PA-IVS, the right ventricle (RV) is underdeveloped and unable to handle the pressure required for pulmonary circulation. However, in the presence of TOF physiology, the overriding aorta and the VSD may allow some oxygenated blood to reach the body, often leading to cyanosis. In this case, however, there was no VSD or overriding aorta. The finding of pulmonary regurgitation (PR) in this case is particularly unusual. PR occurs when blood flows backward into the right ventricle from the pulmonary artery, which is typically seen after surgical repair of TOF, especially when a patch is used to close the VSD or if residual pulmonary stenosis persists.The presence of PR in this patient may reflect an anomalous development of the pulmonary circulation, especially given the complex anatomy of PA-IVS and TOF physiology.
This case report presents a rare occurrence of Neonatal Chikungunya Meningitis diagnosed in a term male neonate in the second week of life. The infant, initially asymptomatic after birth, developed fever, feeding difficulties, and respiratory distress by day 6 of life with subsequent neurological manifestations. Despite initial treatment for suspected bacterial sepsis, the patient showed no improvement. Diagnostic confirmation was achieved through positive Chikungunya RT-PCR in cerebrospinal fluid, supported by characteristic clinical findings including diffuse macular rash and hyperpigmentation on the nose (Chik sign). The case highlights the importance of considering Chikungunya as a differential diagnosis for neonatal meningitis, particularly in endemic areas and with maternal history of intrapartum fever with rash. With supportive care and without antiviral therapy, the infant recovered by day 14 of life with no immediate sequelae. This report emphasizes the challenges in diagnosing this condition due to its non-specific presentation that mimics bacterial sepsis and other arboviral infections.
Importance:Neonates requiring intensive care are at high risk of health care-associated infections. In neonatal intensive care units (NICUs) in low-resource settings, the identification of modifiable risk factors can inform targeted prevention strategies to reduce the global burden of neonatal morbidity and mortality. Objective:To describe the incidence of and the risk factors associated with health care-associated bloodstream infections (BSIs) in NICUs in Pune, India. Design, Setting, and Participants:This multicenter prospective cohort study enrolled all neonates admitted to 3 NICUs in Pune, India, from May 1, 2017, to July 31, 2019. Neonates were followed up from admission until discharge, transfer, or death. This secondary data analysis included neonates admitted for 3 days or more and was completed on January 31, 2024. Main Outcomes and Measures:The primary outcome was health care-associated BSIs, defined as a positive blood culture on or after admission day 3. Summary statistics, incidence of health care-associated BSIs, and hazard rate by characteristics of interest were generated. Among neonates admitted for 7 days or longer, the association between antibiotic exposure and infection risk was assessed. Results:A total of 6410 neonates were admitted for 3 days or longer. The median gestational age was 34 weeks (IQR, 32-37 weeks), and 3560 (55.5%) were male. The incidence of health care-associated BSIs was 6.09 per 1000 patient-days. Most isolates were gram-negative organisms (n = 273 [66.3%]), of which 85.5% (202 of 236 isolates tested) were resistant to third- or fourth-generation cephalosporins and 44.8% (117 of 261 isolates tested) were resistant to carbapenems. The hazard rate of health care-associated BSIs was higher among neonates with central venous catheters, respiratory support, or urinary catheters within 3 days preceding infection. Of 3229 neonates admitted for 7 days or longer, 190 (5.8%) had health care-associated BSIs on or after hospital day 7, with an incidence of 3.22 per 1000 patient-days. Antibiotic exposure during the first week of admission was associated with a nearly 3-fold increase in the risk of health care-associated BSIs (adjusted hazard ratio, 2.82 [95% CI, 1.26-6.32]). Conclusions and Relevance:In this cohort study of 6410 neonates admitted to 3 NICUs in Pune, India, the risk of health care-associated BSIs was associated with the presence of indwelling devices and prior antibiotic exposure. Future efforts should focus on mitigating the risks associated with indwelling devices and strengthening infection prevention and control and antimicrobial stewardship programs to prevent health care-associated infections.
Background Hypoxic-ischemic encephalopathy (HIE) in neonates results from oxygen deprivation at birth, often leading to long-term neurological issues like cerebral palsy. Early detection is key to improving outcomes, but HIE remains a significant cause of neonatal complications. Here we aim to study the risk factors and predictors of outcome in moderate to severe HIE in inborn Term babies in the neonatal intensive care unit (NICU) Methods This prospective observational study was conducted in the NICU at a tertiary care center between August 2022 and July 2024. Forty term neonates diagnosed with moderate to severe HIE based on clinical and MRI findings were included. The study recorded antepartum, intrapartum, and postnatal risk factors, and neonatal outcomes were followed up. Results In this study of 40 term neonates with HIE, 27 (67.5%) were male, 30 (75%) had a birth weight <2.5 kg, and 27 (67.5%) were delivered by cesarean section. Socioeconomic analysis revealed that 17 (42.5%) were from poor backgrounds. Of the mothers, 12 (30%) were over 30 years old and 19 (47.5%) used medications. Intrapartum factors included oligohydramnios in 13 (32.5%) and pregnancy-induced hypertension in 10 (25%). Postnatally, 28 (70%) required resuscitation, and 32 (80%) had a cord blood pH ≤7.0. MRI patterns showed 18 (45%) with basal ganglia/thalamus involvement and 22 (55%) with watershed lesions. At discharge, 39 (97.5%) were sent home, with 5 (12.5%) needing anti-seizure medications. No significant associations were found between MRI patterns and muscle tone or seizure activity. Conclusion This study highlights the complex interplay of maternal, intrapartum, and neonatal factors in the development of HIE. Identifying early risk factors is crucial for developing preventive and therapeutic strategies to reduce the burden of HIE-associated disabilities.
Griscelli syndrome (GS) is a rare autosomal recessive disorder, which has been classified into three subtypes based on clinical and genetic differences. GS subtype 2 is commonly associated with hemophagocytic lymphohistiocytosis (HLH) and recurrent infections due to immunodeficiency. In this study, we describe a four-month-old boy with genetically proven GS2, with neurological and immunological manifestations. He presented with fever, refusal of feeds, drowsiness, and multiple episodes of seizures. Examination revealed hypopigmented skin, silvery gray hair, and organomegaly. The child developed features of HLH, fulfilling clinical and laboratory criteria. Neuroimaging findings were in concordance with HLH of the central nervous system. Microscopic examination of the hair showed clumps of melanin pigment along the hair shaft. All findings were in favor of GS type 2, complicated with HLH, which was later confirmed with a homozygous deletion of the RAB27A gene on exome sequencing. Unfortunately, the baby succumbed to death due to severe sepsis and multiorgan dysfunction. The silvery gray hair, with typical hair microscopic findings, and association with HLH are strong indicators for this potentially fatal condition and aid in prompt diagnosis and initiation of treatment. Hematopoietic stem cell transplantation is the only lifesaving treatment option.
Critical illness polyneuropathy (CIP) and myopathy (CIM) are underreported conditions in critically ill children with prolonged intensive care unit stays and mechanical ventilation. We report a case of a 10-yearold boy with pneumococcal meningoencephalitis with severe sepsis and multiorgan dysfunction. The child required prolonged ventilation, sedation, and inotropic support. He had repeated extubation failures and the development of quadriparesis with areflexia. Electrophysiology studies were consistent with CIP with acute motor and sensory axonal polyneuropathy and elevated muscle enzymes. He was treated with supportive measures and physiotherapy along with management of the underlying condition. He recovered slowly over 68 days with a good recovery with a modified Rankin's scale score of 4 on discharge. There is a need to pay attention to all critically ill children and should have a high index of suspicion for the development of CIP/CIM which can have an impact on course and outcome.
The increasing prevalence of substance misuse in modern culture is contributing to the growth in neonatal abstinence syndrome (NAS) cases in India. NAS can be challenging to diagnose due to nonspecific symptoms and maternal suppression of drug history. Only a few reports of NAS have been published from India. This is a case series of three newborns from India who all had symptoms like restlessness, high-pitched crying, excessive sweating, vigorous sucking, tremors, and diarrhea. The investigations did not lead to any conclusions. In the first case, the mother was treated with a combination of psychotropic medications, including selective serotonin reuptake inhibitors (SSRIs), atypical antipsychotics, and tricyclic antidepressants. In the second case, the mother was a nicotine addict, while in the third case, the mother had an opiate addiction. It was only after being asked several times that the abuse background of the last two cases was revealed. As a result, three cases of NAS were diagnosed, successfully managed with phenobarbitone, and discharged.
Scurvy is a disease caused by a lack of vitamin C. It is a nutritional deficiency that is associated with multiple severe conditions. Although developed countries report these cases rarely now due to advancements in food and nutritional supplements, they are still prevalent in developing countries, albeit rare, because of poor nutritional status. Due to the lower prevalence of scurvy, diagnosis is delayed in the majority of cases and sometimes missed completely, which results in serious complications and unnecessary workups. Here, we present a rare case of a four-year-old female child with severe acute malnutrition (SAM) presenting with scurvy. The initial clinical signs showed SAM. X-ray and MRI of the left femur and knee were done to further evaluate the orthopedic parameters. Clinical presentation and radiographic imaging confirmed all the signs of scurvy. The patient was started on the Formula 75 (F-75) diet to address the severe malnutrition, and steady weight gain was observed.
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.
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.
Congenital diaphragmatic hernia (CDH) is a rare surgical cause of respiratory distress in neonates. CDH is caused by the protrusion of the abdominal contents into the thoracic cavity due to the failure of the pleuroperitoneal canal to close by eight weeks of gestation. We present the case of a full-term, female child, weighing 2.85 kg at birth, born by normal vaginal delivery to a 21-year-old primigravida admitted at our level III neonatal intensive care unit (NICU). Antenatal obstetric ultrasonography suggested duodenal atresia. After birth, the child was found to have right-sided CDH with gut malrotation. Intraoperative laparotomy revealed a right Bochdalek posterolateral defect with herniation of small bowel loops and a portion of the right lobe of the liver into the chest cavity and minimally malrotated cecum in the right iliac fossa (RIF). This case highlights the critical need for early detection and multidisciplinary management of congenital anomalies. Effective management requires a multidisciplinary approach, including prenatal counseling, careful surgical intervention, and intensive neonatal care to optimize respiratory and cardiovascular outcomes for affected infants.
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.
Congenital central hypoventilation syndrome (CCHS) is a rare cause of apnea and hypoventilation requiring long-term multidisciplinary care. In this article, we report the case of a two-month-old female child who presented with recurrent apnea and cyanosis, requiring long-term ventilation. After ruling out other common causes of apnea like sepsis, metabolic disorders, and neuromuscular disorders, a genetic study was done, which confirmed the diagnosis of CCHS. The child was discharged on home oxygen therapy, and the parents were counseled about genetic testing and informed about the prognosis and requirement for home ventilation therapy, as well as parental testing.
Hydrops fetalis has classically been defined as the presence of extracellular fluid in at least two fetal body compartments. This fluid collection includes skin edema (> 5 mm thickness), pericardial effusion, pleural effusion, and ascites. Here we present a case of a 29-year-old female with antenatally diagnosed severe hydrops fetalis which was postnatally successfully managed. Despite recent advances, immune hydrops are still a challenge for healthcare workers in third-world nations.
Neurodevelopmental impairments are known to be more common in premature infants. Premature and low birth weight babies are now more likely to survive because of modern technologies and advancements in perinatal and postnatal care. However, long stays and exposure to harsh stimuli in neonatal intensive care units are known to have a negative impact on the developing neonatal brain. Therefore, the goal of early intervention (EI) is to assist an infant and their family in achieving the greatest potential outcome. This encompasses a broad spectrum of strategies and structured programs that might differ in many aspects, such as who should implement them, where they should take place, and when they should begin. They aid in minimizing brain damage and optimizing growth via varied sensory and motor stimuli. Current evidence supports the initiation of EI therapy soon after birth, starting from neonatal intensive care units and continuing post-discharge. This research is important, especially in developing countries like ours, owing to the increasing number of premature deliveries due to multiple reasons. The focus of this article is to analyze the various protocols and applications available to us for the implementation of EI therapies and their benefits.
Background The right ventricle (RV) in the fetus is the predominant chamber, accounting for about 60% of the total cardiac output. The majority of the RV outflow volume is diverted from the pulmonary artery via the ductus arteriosus to the descending aorta. After birth, the RV undergoes extensive structural and functional modifications. The RV undergoes an improper transition from fetal to neonatal circulation in sick neonatal intensive care unit (NICU) babies. Functional echocardiography is now commonly being used in most NICUs as it is a noninvasive and bedside investigation that gives an immediate evaluation of hemodynamics and can be taken into consideration as an extension of clinical assessment to study a critically unwell neonate. Therefore, a study of RV functions in NICU neonates will help in better understanding the neonatal cardiopulmonary response to different diseases. Thus, this study aimed to assess RV functions in neonates getting admitted to the NICU of a tertiary care institute. Methodology This observational, cross-sectional study was approved by the Research & Recognition Committee of Dr. D. Y. Patil Vidyapeeth, Pune. In total, 35 cases of term neonates admitted to the NICU at Dr. D. Y. Patil Medical College, Hospital & Research Centre, Pune who fulfilled the inclusion criteria were enrolled in this study after obtaining consent from their parents. Two-dimensional echocardiography was performed by a trained pediatric cardiologist, and the findings were substantiated by a neonatologist trained in echocardiography. Results Our study found a strong association between tricuspid inflow velocity and neonates with sepsis. Similarly, a significant association was observed between abnormal tricuspid Inflow velocity (E/A and E/E') and neonates requiring inotropic support. Conclusions Data on the normal values of different echocardiographic parameters of the systolic and diastolic function of the RV during the neonatal phase of life are currently limited. Our data offer preliminary insights into this topic. Early echocardiography and intervention are advisable, especially in neonates with sepsis and requiring inotropic support.
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.