2. Clinical Case Presentation
A 10-minute-old newborn male baby was admitted to our neonatal intensive care unit (NICU) department due to dyspnea. The baby was born to a 20 years old G1P1 preeclamptic (treated) mother at 34 weeks and 6 days of gestation through cesarean section and weighed 1.8 kg (weight centile less than the 10th). The baby had an Apgar score of 7-8 at 1 minute and then 5 minutes and was transferred to the NICU due to increasingly worsening condition. There was no maternal infection(s) and no family history of hereditary, neurological, or systemic diseases were reported from the baby’s paternal or maternal side.
On examination, the baby was fully conscious with a body temperature of 35.8°C, heart rate of 130/min and respiratory rate of 58/min. Breathing sounds were clear and heart beat was regular, without any murmurs. There was nothing abnormal detected on neurological examination. Further inspection revealed no facial abnoamlities, no cleft lip or palate, no low set or overfolded ears, no hypertelorism, no narrow palpebral fissures, no limb anomalies like syndactyly and polydactyly, no hypospadias, and no imperforate anus.
Due to the increasingly worsening condition, the infant was treated with nasal continuous positive airway pressure (NCPAP). In addition, natural bovine surfactant with 100 mg/kg of phospholipids was given through “endotracheal tube” to treat the respiratory distress syndrome (RDS) as manifested on the chest X-ray. Follow-up examination showed improvements in the saturations
The baby continued to perform well on gentle invasive ventilation, maintaining saturations of above 90%. On day 7 of admission, a heart murmur was discovered during routine physical examination. Meanwhile, his lower lip was pulled downwards deviating towards the left during a crying episode, but there was no facial asymmetry during sleeping or at rest (Figure 1). Furthermore, the baby had no difficulty in closing eyes and had normal forehead wrinkling and sucking movements which ruled out a possibility of facial nerve palsy. With these symptoms, ACS was diagnosed and so further investigations were performed. Cranial ultrasound showed a grade 1 periventricular hemorrhagic infarction (PVHI) and bilateral ventriculomegaly. Additionally, echocardiogram revealed membranous ventricular septal defect (5.5mm), multiple atrial septal defects (2.0mm and 1.4mm), and mild pulmonary arterial branch stenosis. The baby was examined with DNA high throughput sequencing analysis, which showed microdeletions of chromosomes 22q11.21 and 11p15.4 (Figure 2). Notably, a 2.92 Mb of chromosome 22q11.21 (18880001-21800000) was deleted, which included 75 RefSeq genes. In addition, a 0.12 Mb of chromosome 11p15.4 (10080001-10200000) was deleted, which contained 1 RefSeq gene.
After using pulmonary surfactant for one week, the baby showed quick and progressive clinical improvement. From days 8 to 12, he underwent full enteral feeding by increasing volumes of milk. He was then discharged in a healthy condition and has been on regular follow up since that time.