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
genetics; syndrome; craniosynostosis; diagnostic difficulty; referral process; Apert syndrome
Key points
  1. Due to the importance of early multidisciplinary input, we suggest all infants who are born with complex syndactyly of the hands and feet are referred for genetic analysis and craniofacial input.
  2. Clinicians should be mindful of how seemingly inappropriate referrals are communicated to parents and the effects this could have on the patient journey.

Also published in Infant:

VOLUME 16/ISSUE 4, JULY 2020
A neonate with congenital nephrotic syndrome
A male infant who was born in poor condition exhibited a persistently raised creatinine level over the first 14 days of life but showed no neurological signs of a significant hypoxic insult. A diagnosis of Finnish-type congenital nephrotic syndrome was eventually made by genetic testing. For neonates presenting with unusual or rare underlying pathologies there may be a period of time in which their signs and symptoms are attributed to a more common pathology. This case report illustrates that alternative more unusual diagnoses must be considered and explored when symptoms and results do not follow an expected course.

Read more...