RT Journal Article
SR Electronic
T1 Metabolic mayhem. The advantage of keeping your nose both in the books and in the nappy!
JF Archives of disease in childhood - Education & practice edition
JO Arch Dis Child Educ Pract Ed
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP edpract-2019-318477
DO 10.1136/archdischild-2019-318477
A1 Buthaina Buzakuk
A1 Judith van der Voort
YR 2021
UL http://ep.bmj.com/content/early/2021/06/14/archdischild-2019-318477.abstract
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.