ESPE Abstracts

Introduction: Osteoporosis in children and young people can be primary due to Osteogenesis Imperfecta (OI) or secondary to chronic disease. We report 2 patients with Idiopathic Juvenile Osteoporosis (IJO), a rare primary osteoporotic disorder.Case 1: A 12 year old boy presented with 12 months of lower back pain and stiffness, against a background of chronic pain in knees, wrist and ankles. There was no history of fractures or systemic disease. Examinatio...

Introduction: Beckwith-Wiedemann Syndrome (BWS) is a rare genetic disorder that could be associated with embryonal tumours. Genotype based categorisation of patients enables better screening strategies. We present a patient with BWS who developed atypical congenital hepatoblastoma and atypical Wilms tumour in infancy.Case Report: A 2 day old infant was referred with recurrent hypoglycaemia and high intravenous glucose requirement [>12 mg/kg/min]. He ...

Introduction: Xanthogranulomatous hypophysitis (XGH) is a very rare form of pituitary hypophysitis that may present both clinically and radiologically as a neoplastic lesion or craniopharyngioma. Our case series compares the paediatric and adult presentations of XGH and the differential diagnoses considered.Case series: Patient 1: A 15-year-old female presented with refractory headache, lethargy, short stature, delayed growth (weight (−3.3...