Metabolic mayhem. The advantage of keeping your nose both in the books and in the nappy!

Abstract

This case presentation takes you on a journey of diagnostic hurdles, covering a common neonatal presentation: abdominal distention with failure to pass meconium, followed by a presentation in infancy with metabolic, renal and electrolyte abnormalities. The article provides a systematic approach to the different clinical problems, allowing interpretation of results, making differential diagnoses and deciding on investigations and management.