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

Haddad syndrome; facial paralysis; Hirschsprung’s disease; Ondine syndrome; congenital central hypoventilation syndrome; neurocristopathies

Key points

Haddad syndrome is a rare condition comprising CCHS associated with Hirschsprung’s disease.
The patient discussed here presented with most of the clinical features of Haddad syndrome plus a novel manifestation – facial paralysis.

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Necrotising enterocolitis - a cause for neonatal perforated appendicitis

A report of an 11 day old full term neonate with a perforated appendix caused by necrotizing enterocolitis is presented with a discussion of the current literature. Appendicitis and NEC remain rare entities in term neonates. However in the term baby presenting with signs suggestive of NEC, the possibility of appendicitis requiring laparotomy must be considered.