We describe a case series of five infants (age range: 1–90 days; 4 females and 1 male) who presented to Al Jalila Children’s intensive care units (ICU) with complex multisystem disorders. Patients were Emirati, Kenyan, Jordanian, Filipino, or Pakistani. Trio rapid whole genome sequencing (rWGS) was performed on all five patients and their parents within the hospital’s genomics facility. Results were returned within ~37 h from blood sample draws and were diagnostic in 3 out of 5 patients. Positive findings were a homozygous pathogenic variant in POMT1 gene causing muscular dystrophydystroglycanopathy, a mosaic tetrasomy of the short arm of chromosome 12 (12p13.33p11.1) causing Pallister-Killian syndrome, and compound heterozygous pathogenic variants in the LIPA gene causing lysosomal acid lipase deficiency and Wolman disease. The rWGS analysis provided fast and precise diagnostic findings in those 3 patients and also aided in devising better management plans for them in the intensive care setting. For example, the 3-month-old infant with pathogenic variants in the LIPA gene is now a candidate for an FDA-approved, potentially lifesaving enzyme replacement therapy (sebelipase alfa). Our case series emphasize the feasibility and utility of rWGS in pediatric intensive care setting, in a diverse population that has long been underserved in genomic services. Significant investments in local healthcare infrastructure are needed, globally, for more equitable access of genomic medicine among vulnerable patients.

Sepsis results in intense disturbances in homoeostasis and is responsible for considerable morbidity and mortality in early infancy. Owing to insufficiency on part of infant to develop adequate inflammatory response to localize the infection, they usually progress to disseminated systemic infection, pneumonia and/or meningitis. We present the case of a 26 weeks preterm boy with acute digital ischemia in right index finger progressing to impending gangrene as a manifestation of septicemia. Use of topical nitroglycerin patch with meticulous monitoring successfully alleviated the impending peripheral gangrene without any adverse effects.

Neonatal Dieulafoy’s lesion is a rare but serious condition that can be life-threatening if not diagnosed and intervened in a timely manner. It presents with episodes of sudden acute gastrointestinal haemorrhage in the form of blood in vomit and/or blood in stool. In general, most of the lesions are successfully treated with endoscopic or angiographic intervention. Surgery is usually reserved for cases that fail endoscopic or angiographic intervention. We present a neonatal case of duodenal Dieulafoy’s lesion that occurred in a 29-week-old male baby with birth weight of 1.2 kg. He developed melena and haematemesis at 4 weeks of life. He required normal saline boluses and transfusion of blood products for acute blood loss. The lesion was successfully treated with endoscopic intervention.

Patient: MaLe, newborn Final Diagnosis: MIRAGE syndrome Symptoms: Adrenal insufficiency • ambiguous genitalia • colonic dilatation • dry eyes • enteropathy • hypothyroidism Medication: — Clinical Procedure: — Specialty: Endocrinology and Metabolic • Gastroenterology and Hepatology • Genetics • Pediatrics and Neonatology Objective: Rare disease Background: Major findings of myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy (MIRAGE) syndrome is a rare genetic condition caused by a gain-of-function mutation in the SAMD9 gene. It acts as a growth repressor expressed in the endothelial cells. Pathogenic variants in the SAMD9 gene lead to profound growth-restricting activity intrinsic to the protein, which further reduces cellular proliferation and instigates this growth-limiting condition. Gastrointestinal features include chronic diarrhea, severe diaper rash, and colonic dilatation. Until now, there has been no description of exocrine pancreatic insufficiency as a possible cause of enteropathy in MIRAGE syndrome. Case Report: We report a case of MIRAGE syndrome affecting multiple systems in an infant who had severe enteropathy which responded well to porcine-derived pancreatic enzyme supplements despite normal pancreatic fecal elastase level. The infant is being followed up by multidisciplinary teams in our outpatient department. Conclusions: Porcine-derived pancreatic enzyme is beneficial in enteropathy due to MIRAGE syndrome and is worth considering.

Background: The birth weight is the first weight measured; an infant with low birth weight is more likely to have poor somatic growth during childhood and develop markers of metabolic risk factors at his/her later age. Objectives: To evaluate the somatic growth of very low birth weight (VLBW) infants at discharge and 40 weeks postmenstrual age and to compare the growth of small for gestational age (SGA) and appropriate for gestational age (AGA) babies. Methods: This prospective observational study was conducted over a period of one year at the neonatal unit and high-risk follow-up clinic of a tertiary care hospital. VLBW babies (weight less than 1500 g), admitted within 72 hours of life and discharged alive, were followed up prospectively. The baseline data were collected before discharge from the hospital and babies were followed up till the 40 weeks post-menstrual age. Results: Out of 53 babies enrolled, one baby had a congenital malformation, six died during NICU stay, and four were not followed up. Finally, 42 babies were followed for 40 weeks. The mean gestational age was 30 ± 2.5 weeks and mean birth weight was 1199 ± 216 gm. The mean Z scores for weight, length and head circumference at birth were -0.88, -0.59, and -0.64, respectively. These changed to -1.12, -1.12, and -1.11, respectively at the time of discharge and -1.69, -1.03, and -0.73, respectively at post-menstrual age of 40 weeks. Both SGA and AGA infants exhibited a growth lag during hospital stay as indicated by a fall in Z scores for all three parameters from birth to discharge. Exclusive enteral feeding is feasible for VLBW infants without any difference in growth compared to babies given short term parenteral nutrition. Despite aggressive enteral feeding, only one baby had NEC and none of the babies developed late onset sepsis. Conclusions: In our study, both SGA and AGA infants exhibited a growth lag during hospital stay as indicated by a fall in Z scores for all three parameters from birth to discharge. Exclusive enteral feeding is feasible for VLBW infants without any difference in growth compared to babies given short-term parenteral nutrition. Also, rapid progression of feeds did not have any significant adverse effects in our study population.