We present the case of a term newborn with trisomy 21 who presented to the paediatric emergency department with periumbilical flare and green-brown discharge from a clamped umbilical cord, initially suspected to be omphalitis. However, it was noticed later, that when the infant strained or cried, a thick, bubbling and offensive green-brown discharge came out of the clamped umbilical cord with umbilical flatus. An ultrasound abdomen and umbilical cord confirmed the presence of a persistent omphalomesenteric duct (POMD). He was then transferred to the paediatric surgical unit. There, he underwent a laparotomy and surgical resection of the POMD and was discharged home 2 days later.

We report a successful case where a newborn with transfusion-related acute lung injury following an exchange transfusion was effectively treated using conservative methods, eliminating the need for surfactant therapy. Very few instances of this complication have been documented globally. A low birth weight, small for gestational age, term neonate, diagnosed with hyperbilirubinaemia due to Rh incompatibility, experienced sudden respiratory distress in the form of severe retractions, tachypnoea and cyanosis 3 hours after the procedure. Neonate required mechanical ventilation on the grounds of mixed acidosis and diffuse alveolar infiltrates on the chest radiograph. The medical team suspected and treated the baby for transfusion-related acute lung injury through conservative measures. Transfusion-related acute lung injury, an acute life-threatening complication of blood component transfusion, can exhibit symptoms in neonates that are frequently misinterpreted as sepsis. The baby was discharged in good health after successful management after 19 days.

A case of neonatal sepsis caused by Edwardsiella tarda, an uncommon pathogen typically associated with aquatic lifeforms, is described. The infant presented in septic shock with seizures and respiratory failure and was found to have meningitis, ventriculitis and a brain abscess requiring drainage. Only a small number of case reports of neonatal E. tarda infection, several with sepsis with poor auditory or neurodevelopmental outcomes or meningitis, have been described in the literature. This case report suggests that E. tarda, while uncommon, can be a cause of serious central nervous system disease in the neonatal population and that an aggressive approach to pursuing and treating complications may lead to improved neurodevelopmental outcomes.

A term neonate presented with cyanosis from birth, with refractory hypoxaemia despite intubation, administration of 100% oxygen and inhaled nitric oxide. Structural congenital heart disease was excluded. He developed profuse pulmonary haemorrhage at 6 hours of life with worsening hypoxia and was transferred to a paediatric intensive care unit (PICU) for initiation of veno-venous extracorporeal membrane oxygenation (vvECMO). Endotracheal aspirates from both the birth hospital and the PICU were positive for Bacillus cereus, with all other investigations finding no alternative cause for his presentation. Of note, mother was a practising veterinarian raising another potential source of exposure to this pathogen. A full recovery occurred after a total of 5 days of vvECMO, 13 days of ventilation and 20 days of PICU stay.

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Autosomal recessive congenital ichthyosis is a type of inherited ichthyosis which is a rare cluster of genetic disorders leading to defective keratinisation. The combined prevalence for lamellar ichthyosis and congenital ichthyosiform erythroderma is almost 1 per 200 000-300 000 people. Among all the mutations in this gene, missense and frameshift mutations are most common which account for 80% of the cases. Our patient had a mutation in R-type arachidonate 12-lipoxygenase gene (ALOX12B, OMIM*603741).

A newborn baby born at 34 weeks and 5 days gestation was admitted for prematurity, dysmorphic features and congenital heart defects. Antenatal scan at 21 weeks showed a large-for-gestational-age foetus with a large abdominal circumference and liver, ventricular septal defect, right prominent renal pelvis and echogenic bowel. Antenatal genetic tests for overgrowth syndromes were negative. The mother had early onset pre-eclampsia. After birth, an overgrowth syndrome was still suspected despite the baby having normal birth parameters. Raw data of the trio whole exome sequencing from the amniocentesis sample were manually inspected. Hemizygous exon 7 deletion in the GPC3 gene was found, and a postnatal diagnosis of Simpson-Golabi-Behmel syndrome, a rare overgrowth syndrome, was made. This case report discusses the significance of antenatal findings, an atypical presentation of a rare syndrome and the obstacles of diagnostic genetic testing.

Neonatal jaundice is a frequently observed occurrence in full-term newborns and typically manifests between 48 and 96 hours following birth. Early-onset jaundice is primarily induced by pathological factors, namely sepsis, hemolysis and an excessive accumulation of bilirubin resulting from the breakdown of red blood cells.We present a case involving a full-term newborn with an uneventful perinatal history, who exhibited jaundice within the initial day of life and was subsequently admitted to the neonatal intensive care unit to commence intensive phototherapy. Initial screenings for sepsis and blood group incompatibility yielded negative results. However, despite 6 hours of phototherapy, the bilirubin levels did not decrease, prompting an investigation into central nervous system haemorrhage, which uncovered the presence of a haemorrhagic stroke.After a worsening in neurological status with neonatal crisis and need for phenobarbital, a life-saving craniotomy was performed. Clinical evolution was good with no additional crisis detected after the early neonatal period and improvement in motor function at 2-month-old follow-up.

We report a middle-childhood girl presented with high-grade fever and headache for 4 days. Following this, the child developed mucocutaneous symptoms. She had a notable family history of autoimmune disease. Tests revealed increased inflammatory markers. On the sixth day of illness, a two-dimensonal echocardiogram showed an enlarged coronary artery, diagnosed as incomplete Kawasaki disease (KD) and treated with IVIG and aspirin.Within a week, her younger sibling, an early-childhood girl presented with features of viral prodrome, developed mucocutaneous lesions and subcutaneous oedema of limbs. Her investigations also showed elevated inflammatory markers and echocardiographic changes, diagnosed as incomplete KD.The subsequent development of KD in siblings, both showing initial viral symptoms and a family history of autoimmune disease, led to the suspicion of a potential viral trigger. This was confirmed through viral PCR studies for human adenovirus (type 3). These cases highlight an unusual occurrence of KD developing in siblings following acute adenoviral infection.

Blunt cardiac injury, including a rupture of the atria or ventricle, is most commonly caused by motor vehicle collisions and falls from great heights. A rupture of a cardiac chamber is an extremely rare diagnosis with a high mortality rate. The best chance at survival can only be accomplished with timely intervention.To raise awareness of this potentially life-threatening injury, we describe the case of a male adolescent with cardiac rupture after blunt thoracic trauma. While the focused assessment with sonography in trauma (FAST) examination was negative, an additional CT showed pericardial effusion. During the operation a rupture of the right ventricle was observed.Even though the physical recovery of our patient is remarkable, the traumatic event still affects his mental well-being and activities in daily life. This case emphasises the need of a multidisciplinary approach to achieve the best possible physical and psychological recovery in multitrauma patients.