PT  - JOURNAL ARTICLE
AU  - Buthaina Buzakuk
AU  - Judith van der Voort
TI  - Metabolic mayhem. The advantage of keeping your nose both in the books and in the nappy!
AID  - 10.1136/archdischild-2019-318477
DP  - 2021 Jun 14
TA  - Archives of disease in childhood - Education & practice edition
PG  - edpract-2019-318477
4099  - http://ep.bmj.com/content/early/2021/06/14/archdischild-2019-318477.short
4100  - http://ep.bmj.com/content/early/2021/06/14/archdischild-2019-318477.full
AB  - 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.