ABSTRACT
BACKGROUND: Congenital Hyperinsulinism (CHI) is an important cause of severe hypoglycaemia in infancy due to excessive, dysregulated insulin secretion. In focal CHI, a localised lesion within the pancreas hypersecretes insulin and, importantly, hypoglycaemia resolution is possible through limited surgical resection of the lesion. Diagnosis of focal CHI is based on a crucial combination of compatible genetics and specialised imaging. Specifically, a focal lesion arises due to a paternal mutation in one of the ATP-sensitive potassium channel genes, KCNJ11 or ABCC8, in combination with post-zygotic loss of maternal heterozygosity within the affected pancreatic tissue. 6-[18F]Fluoro-L-3,4-dihydroxyphenylalanine (18F-DOPA) positron emission tomography (PET)/computed tomography (CT) imaging is used to detect and localise the lesion prior to surgery. However, its accuracy is imperfect and needs recognition in individual case management. CASE PRESENTATION: We report the case of an infant with hypoglycaemia due to CHI and a paternally inherited KCNJ11 mutation, c.286G > A (p.Ala96Thr), leading to a high probability of focal CHI. However,18F-DOPA PET/CT scanning demonstrated diffuse uptake and failed to conclusively identify a focal lesion. Due to unresponsiveness to medical therapy and ongoing significant hypoglycaemia, surgery was undertaken and a small 4.9 × 1.7 mm focal lesion was discovered at the pancreatic neck. This is the second case where this particular KCNJ11 mutation has been incorrectly associated with diffuse 18F-DOPA uptake, in contrast to the correct diagnosis of focal CHI confirmed by pancreatic biopsy. CONCLUSIONS: Identifying discrepancies between genetic and imaging investigations is crucial as this may negatively impact upon the diagnosis and surgical treatment of focal CHI. This case highlights the need for pancreatic biopsy when a strong suspicion of focal CHI is present even if 18F-DOPA imaging fails to demonstrate a discrete lesion.
ABSTRACT
The WHO advocates the use of a One Health approach to address antimicrobial resistance (AMR), focusing on integrating human, animal and environmental health factors. Nevertheless, there is a dearth of AMR research investigating the complexity of down and upstream factors across the One Health spectrum, especially in resource-deprived settings. The Childhood Infections and Pollution Consortium (CHIP) was designed to reduce the burden of childhood infections and AMR in urban slums, particularly in low-and middle-income countries, using One Health and technology-enabled Citizen Science approaches. Currently operationalized in three countries; India, Indonesia and Chile; CHIP is composed of interdisciplinary academics, healthcare professionals, veterinarians, international and local non-governmental organisations, current and former policymakers, local artists and community champions, amongst others. The CHIP Consortium invites collaborations for evidence-driven research, targeted investment and co-development of interventions in slums. We will host our third annual consortium workshop in Hong Kong in 2021 to build on our current work and explore new avenues to tackle childhood infections and AMR.
