Listen "Metabolic mysteries: GI bleeding, gallbladder polyps and evolving developmental delay"
Episode Synopsis
Dr JP Stevens shares the mystery of a 5-year-old boy presenting with severe gastrointestinal bleeding and cholestasis. Inpatient investigation reveals gallbladder polyps and, on assessment after recovery he is found to have signs of developmental delay. Can you recognise the clues in the presentation?
https://onlinelibrary.wiley.com/doi/10.1097/PG9.0000000000000122
https://onlinelibrary.wiley.com/doi/10.1097/PG9.0000000000000122
More episodes of the podcast JIMD Podcasts
Shortcast: Liver Directed Rx don’t change biochemistry nor Leukodystrophy in Biallelic HMBS Variants
30/12/2025
Sixty Years of Metabolic Medicine: A Conversation with Jean-Marie Saudubray and Manuel Schiff
23/12/2025
Shortcast: Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders
25/11/2025
IMD Research Round-Up: Mitochondrial disease
11/11/2025
ZARZA We are Zarza, the prestigious firm behind major projects in information technology.