167 Development of an acute general paediatrics service specification at a major London teaching hospital

Abstract

developed methaemoglobinaemia as a result. Initial methaemoglobin was 48% which subsequently improved to 3% following 3 doses of methylene blue with good clinical response. Further investigations excluded Systemic lupus erythematosus and Crohn's disease, which have been reported as associated with PD. The infant's recovery was supported with parental nutrition and discharged home with ongoing follow up with Paediatric metabolic specialists.Management of PD is mainly supportive with consideration of use of co-factors that can improve collagen stability, suppression of collagenase and topical application of ointments containing L-proline. Enzyme replacement is also being actively researched.This case illustrates the importance of prompt recognition and treatment of methaemoglobinaemia in infants with unexplained metabolic acidosis. It also highlights awareness of PD, which although, is extremely rare, can be diagnosed through metabolic screening tests and genetic testing, thereby leading to earlier supportive management.