At medical school, there is a phrase to help us remember that common things are common: 'If you hear hooves think horses, not zebras'. However, zebras do exist, and from time to time in general paediatric and neonatal practice, we will encounter these rare diagnoses, more of which we can now accurately diagnose through the ever-expanding field of genomics. Our case demonstrates how a rare diagnosis can present with common features of growth restriction, jaundice and anaemia. Paediatricians therefore require a high index of suspicion and increasing knowledge of the logistics of genetic testing.
Keywords: Allergy and Immunology; Infectious Disease Medicine; Neonatology; Paediatrics; Rheumatology.
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