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

Nocardia; pneumonia; immune deficiency; thrombocytopenia; chronic granulomatous disease

Key points

N. farcinicais an infrequent but clinically aggressive infection usually associated with immunocompromised patients.
Extreme prematurity may be a contributing factor for acquiring nocardial infection.

Also published in Infant:

VOLUME 9/ISSUE 2, MARCH 2013

Severe combined immunodeficiency in the newborn

Severe combined immunodeficiencies (SCIDs) are a group of rare diseases of T-lymphocyte or thymic failure, which comprise the most severe immunodeficiencies. Generally fatal by one year of age without treatment, they constitute a paediatric emergency and early diagnosis facilitates a better prognosis. This article will review the molecular mechanisms of SCID, clinical signs and symptoms, diagnostic investigations and review treatment modalities and outcomes, and discuss future developments.