Background: Clinical, pathologic, and genetic heterogeneity is a challenge in identifying and classifying congenital dyserythropoietic anemia (CDA). CDA type IV, the rarest CDA with only 11 reported cases, results from KLF1 gene mutation. Clinical Description: A male preterm neonate presented with jaundice, anemia, pulmonary hypertension and hepatosplenomegaly in the immediate postnatal period, requiring multiple red blood cell transfusions. Management and Outcome: The workup for non-immune haemolytic anemia including red blood cell structural and enzymatic studies and were normal, with peripheral blood smear showing multiple polychromatic cells and numerous nucleated red blood cells including binucleate ones and fetal haemoglobin of 91.2%. Genetic testing revealed KLF1 E325K mutation suggestive of CDA type IV, though parental testing was normal, suggesting de novo mutation. The infant has been receiving packed RBC transfusion every three to four weeks initially and then every two months. The baby is now of twelve months of age, and receives oral vitamin B12 and folic acid supplementation for ineffective erythropoiesis. Though his weight is in the 3rd centile for age and height, he has been developmentally normal. Conclusions: Our report, the first description of a CDA type IV diagnosis in the neonatal period, adds to the limited knowledge of this disorder, which we also comprehensively review. The report highlights the phenotype of the disorder and the importance of neonatal genetic testing in a case of transfusion dependent anemia, having ruled out other causes.

Background Persistent pulmonary hypertension of the newborn (PPHN) is a common neonatal condition associated with significant morbidity and mortality. First-line diagnostic and treatment options such as echocardiography and inhaled nitric oxide (iNO) are not routinely available in resource limited settings and alternative treatment modalities need to be utilized. This study was conducted to assess current diagnostic and management strategies used for PPHN in Indian neonatal intensive care units (NICUs). Methods A questionnaire in multiple choice question format was sent to practising neonatologists in India via an online survey tool between July to August 2021. Information pertaining to demographic data, diagnostic criteria and management strategies of PPHN was requested. The responses were collated and information processed. Results There were 118 respondent NICUs (response rate 74%). The majority of neonatal units (65%) admitted an average of 1–3 patients of PPHN per month. Targeted neonatal echocardiography (TnECHO) was practised in 80% of the units. Most common management strategies being followed were pulmonary vasodilators (88.1%), inotropes (85.6%), conventional ventilation (68.6%) and high frequency ventilation (59.3%). The most preferred pulmonary vasodilator was sildenafil (79%) and inotropic agent was milrinone (32%). Only 25% of respondents reported use of iNO. None of the participating units used extracorporeal membrane oxygenation. Conclusion We found wide variability in management practices of PPHN across Indian NICUs. Non-selective pulmonary vasodilators are more widely used than iNO. There is an urgent need for structured TnECHO training programs and evidence based national guidelines for standardized management of PPHN as per availability of resources in India. Additional research on low cost alternative therapies to iNO in Indian settings might be helpful.

Objectives: Primary objective was to determine the diagnostic accuracy of lung ultrasound score (LUS) in predicting the need for surfactant therapy in preterm neonates (< 34 weeks) with respiratory distress. Secondary objectives were to correlate LUS with corresponding oxygen saturation to fraction of inspired oxygen ratio (SpO2/FiO2), arterial/Alveolar oxygen pressure ratio (a/A]and chest x-ray (CXR) findings. Working hypothesis: LUS reflects lung aeration and will correlate with requirement of surfactant in preterm neonates with respiratory distress. It can be an accurate and timely predictor for surfactant therapy. Study design: Prospective observational study carried out at a tertiary level NICU in Western India in 2022 enrolling 100 neonates <34 weeks gestation with respiratory distress. Methodology: After initial stabilization of the neonate, LUS was performed and baseline parameters noted. Surfactant was administered as per 2019 European guidelines and LUS was repeated after 6 hours. Results: The mean gestation of enrolled neonates was 31.06 +/- 2.12 weeks and the mean birthweight was 1412 +/- 391 g. Out of 100 neonates, 40 required surfactant therapy. The cutoff LUS for surfactant therapy was 7 (area under curve [AUC] 0.977; 95% CI, 0.947-1; P < 0.001; with sensitivity 93.33%, specificity 92.5%, PPV 94.92%, NPV 90.24%) and the cutoff LUS for second dose of surfactant was 10 (AUC 0.964; 95% CI, 0.913-1; P < 0.001. The score decreased by an average 3.24 (2.44 - 4.05) after 6 hours of first dose and correlated significantly with SpO2/FiO2 ratio (-0.750), a/A ratio (-0.650) and CXR findings (0.801). Conclusion: LUS ≥ 7 can be considered an accurate marker for surfactant replacement therapy.

Background: Persistent pulmonary hypertension of the newborn (PPHN) is a common neonatal condition associated with significant morbidity and mortality. First-line diagnostic and treatment options such as echocardiography and inhaled nitric oxide (iNO) are not routinely available in resource limited settings and alternative treatment modalities need to be utilized. This study was conducted to assess current diagnostic and management strategies used for PPHN in Indian neonatal intensive care units (NICUs). Methods: A questionnaire in multiple choice question format was sent to practising neonatologists in India via an online survey tool between July to August 2021. Information pertaining to demographic data, diagnostic criteria and management strategies of PPHN was requested. The responses were collated and information processed. Results: There were 118 respondent NICUs (response rate 74%). The majority of neonatal units (65%) admitted an average of 1-3 patients of PPHN per month. Targeted neonatal echocardiography (TnECHO) was practised in 80% of the units. Most common management strategies being followed were pulmonary vasodilators (88.1%), inotropes (85.6%), conventional ventilation (68.6%) and high frequency ventilation (59.3%). The most preferred pulmonary vasodilator was sildenafil (79%) and inotropic agent was milrinone (32%). Only 25% of respondents reported use of iNO. None of the participating units used extracorporeal membrane oxygenation. Conclusion: We found wide variability in management practices of PPHN across Indian NICUs. Non-selective pulmonary vasodilators are more widely used than iNO. There is an urgent need for structured TnECHO training programs and evidence based national guidelines for standardized management of PPHN as per availability of resources in India. Additional research on low cost alternative therapies to iNO in Indian settings might be helpful.

Sotos syndrome type I is one of the more common genetic overgrowth disorders. It presents classically with macrocephaly, distinctive facial gestalt, and acromegalic features, along with neonatal complications including hypotonia, feeding difficulties, and hypoglycemia with other minor feature inconstancies. The phenotypical overlap of features of this syndrome, more so in neonatal age, thwarts an easy diagnosis. In this case report, a neonate of a nonconsanguineous marriage to a multigravida mother with insignificant obstetric history, presented primarily with respiratory difficulty, central hypotonia, and hypoglycemia. Sparse hair, tall forehead, pointed chin, and lax skin were accompanied by persistent encephalopathy and refractory myoclonic jerks. However, the quintessential features of pre- and postnatal overgrowth were lacking, making the line of diagnosis difficult. On neuroimaging, atypical diffuse pachygyria was found. Clinical exome sequencing revealed heterozygous single base pair deletion in exon 21 of the NSD1 gene on chromosome 5q35, resulting in an unreported frameshift and premature truncation of the protein 19 amino acids downstream to codon 2065, confirming the genetic diagnosis of autosomal dominant Sotos syndrome 1. The neonate later succumbed to death after withdrawal of ventilatory support.