Background Hepatocyte nuclear factor 4 alpha (HNF4A) gene mutations have a well-recognized role in maturity-onset diabetes of the young and have recently been described in congenital hyperinsulinism. A biphasic phenotype has been postulated, with macrosomia and congenital hyperinsulinism in infancy, and diabetes in young adulthood. In this case series, we report three children with HNF4A mutations (two de novo) and diazoxide-responsive congenital hyperinsulinism, highlighting the potential for ongoing diazoxide requirement and the importance of screening for these mutations even in the absence of family history.

We present a girl who initially presented at 12 weeks of age with antibody negative diabetes. Genetic screening for common mutations of monogenic diabetes was negative. She was noted to have short stature at 8 years of age (height <0.4 centile), as well as overlapping toes and distal abnormalities of her fingers. On reevaluation, further investigation revealed an EIF2AK3 mutation, and a diagnosis of Wolcott Rallison syndrome was made. This case highlights the importance of close follow up of patients with neonatal diabetes for the development of syndromic features that may lead to a unifying diagnosis.

Aims To audit current practice and develop guidelines on the ordering of skeletal surveys in patients <2 yo presenting with fractures to our ED department Methods We used the guideline published in Paediatrics: “Development of Guidelines for Skeletal Survey in Young Children with Fractures”.1 Using our online server we reviewed data over two years (2012–2013). Patients <24 months and any patient presenting with a fracture presenting to ED were included. In accordance with the guideline, data audited included age (0–11 ms, 12–23 ms), developmental status (ambulatory v non-ambulatory), time from fracture to presentation, history and mechanism of injury, pertinent features on examination, existent co-morbidities, radiological characteristics and age of fracture, decision to skeletal survey and time from fracture to skeletal survey. Results 59 patients were identified over the two year period (range 22 days–23 months). 20.3% (n = 12) were between 0–11 ms, 79.7% (n = 47) were between 12–23 ms. 1 patient (1.7%) aged 9 ms had a skeletal survey. If the above guideline had been applied, 40.7% of this patient cohort would have warranted a skeletal survey, and 75% (n = 9) of our 0–11 agegroup and 31.9% (n = 15) of our 12–23 agegroup would have qualified for a skeletal survey. Conclusion In a busy ED department with short physician-patient interaction a systematic approach to child protection is of paramount importance. This data suggests that our centre is under-utilising skeletal surveys in the management of children under the age of 2 presenting with fractures to our ED department. Significant cultural differences may impact on the relevance of this guideline for our patient population. We are developing a new protocol to help ED doctors decide when a skeletal survey is appropriate in vulnerable children. Reference Wood JN, Fakeye O, Feudtner C, et al. Development of guidelines for skeletal survey in young children with fractures. Pediatrics. Originally published online June 16 2014, DOI: 10: 10.1542/peds.2013-3242.

Our patient is an 18-year-old Caucasian woman from the UK who developed severe mitral stenosis on a history of childhood acute rheumatic fever (ARF) and rheumatic heart disease (RHD). She had been reporting of her oral penicillin secondary prophylaxis regimen since diagnosis. At the age of 15 years, a new murmur was discovered during routine cardiac follow-up. An echocardiogram confirmed moderate-severe mitral stenosis. One year later, her exercise tolerance significantly deteriorated and she subsequently underwent balloon valvuloplasty of her mitral valve to good effect. Our case emphasises the evidence base supporting the use of monthly intramuscular penicillin injection to prevent ARF recurrence and RHD progression; it also emphasises the reduced efficacy of oral penicillin prophylaxis in this context. It particularly resonates with regions of low rheumatic fever endemicity. The long-term cardiac sequelae of ARF can be devastating; prescribing the most effective secondary prophylaxis regimen is essential.