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,

Udoka Asoh
ST7 Paediatric Trainee, Neonatal Unit, Hull University Teaching Hospitals NHS Trust,

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bone marrow failure; pancytopenia; Shwachman-Diamond syndrome; EFL1; trio exome sequencing
Key points
  1. Standard antenatal genetic testing does not exclude a molecular diagnosis of SDS.
  2. Consider SDS in neonates with pancyto-penia and possible skeletal dysplasia.

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