Infant Journal
for neonatal and paediatric healthcare professionals

A floppy baby with elevated right hemidiaphragm and large stomach bubble on chest radiograph: what’s the diagnosis?

A preterm neonate of 36 weeks’ gestation was born via emergency lower segment caesarean section, requiring respiratory support soon after birth. She was hypotonic from birth and was found to have a large gastric bubble and a raised right hemidiaphragm on X-ray. She reached full feeds through a nasogastric tube on day 3 of life but later developed severe gastro-oesophageal reflux with pulmonary aspiration. What is the likely diagnosis?

Fatimah Aliyu
ST6 Paediatric Trainee, York Teaching Hospital, NHS Foundation Trust, f.aliyu@nhs.net

Udoka Asoh
ST7 Paediatric Trainee, Neonatal Unit, Hull University Teaching Hospitals NHS Trust, u.asoh@nhs.net

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Keywords
congenital nephrotic syndrome; genetics congenital renal abnormality;
Key points
  1. It is important to further investigate any symptoms that do not fit with an initial diagnosis.
  2. The genetic basis for congenital nephrotic syndrome (CNS) is becoming better defined and testing is more readily available.
  3. The NPHS1 gene encodes nephrin and is implicated in autosomal recessive Finnish-type CNS.
  4. CNS can also be caused by genetic defects in NPHS2, LAMB2 and WT1 genes.