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.