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

bone marrow failure; pancytopenia; Shwachman-Diamond syndrome; EFL1; trio exome sequencing

Key points

Standard antenatal genetic testing does not exclude a molecular diagnosis of SDS.
Consider SDS in neonates with pancyto-penia and possible skeletal dysplasia.

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VOLUME 7/ISSUE 5, SEPTEMBER 2011

Hereditary folate malabsorption: effect of systemic folate supplements on myelination

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