ESPE Abstracts

Background: CHI is a rare condition which can be related to neurological damage due to hypoglycaemic brain injury. Long hospital admissions maybe necessary which can impact babies’ experience of posture and movement, translating to a motor delay. A physiotherapy developmental assessment is a vital part of a multidisciplinary team approach to personalising care. Assessment during admission is essential to provide appropriate developmental support, particu...

Background: The BoneXpert method is an automated determination of bone age, which employs deformable models of each bone to locate the bones, and extracts the component of the bone appearance related to maturity in a holistic, statistical manner. The BoneXpert has been validated on normal children and children with diagnoses typical of pediatric endocrinology. Multiple clinical studies suggested that BoneXpert has adequate accuracy, precision, and efficiency to be clinically u...

Background: Alagille syndrome (ALGS) is an autosomal dominant genetic disorder, with highly variable phenotype affecting multiple organs. Commonly presents in infancy or early childhood as cholestasis. Mutations in the notch signaling pathway ligand (JAG1) or its receptor (NOTCH2) lead to ALGS. This pathway is important for the pancreatic development. However,no cases of ALGS with Congenital Hyperinsulinism (CHI) have been reported to date.<p class="abste...

Background: Studies have suggested that sirolimus might be diabetogenic, mostly in kidney transplant recipients. Sirolimus has now been shown to be effective in the management of patients with congenital hyperinsulinism (CHI). However to date, there are no publications regarding the diabetogenic effect of Sirolimus in CHI patients.Objective and hypotheses: To report the first case of sirolimus precipitating diabetes in a CHI patient with known genetic mu...

Introduction: A promoter mutation (c.167G>T) in the phosphomannomutase 2 (PMM2) gene, either homozygous or occurring in trans with a PMM2 coding mutation, causes hyperinsulinism (HI) and polycystic kidney disease (PKD) – HIPKD. Organ-specific deficiency of PMM2 leads to the restricted phenotype of HIPKD, without typical clinical features of the Congenital Disorder of Glycosylation Type 1a (CDG1a), which is caused by recessive coding ...

Introduction: Tyrosinaemia type 1 (TT1) is a rare autosomal recessively inherited disorder of tyrosine metabolism leading to accumulation of tyrosine and its metabolites in liver, kidney and central nervous system. TT1 is a heterogeneous disorder with a broad spectrum of clinical manifestations. Hypoglycaemia is common, especially in the acute phase of the disease due to liver failure and reduced hepatic clearance of insulin. However, confirmed cases of hyperi...

Background: Case reports have documented variable glycaemic response to the mTOR inhibitor Sirolimus in severe diazoxide+/−octreotide unresponsive forms of congenital hyperinsulinaemic hypoglycaemia (CHI). A high incidence of adverse effects has been reported in patients receiving this medication.Objective(s): To describe the efficacy and safety of Sirolimus use over a 5-year period in the largest cohort of CHI patients treated to date.<p class...

Introduction: Post-prandial hyperinsulinaemic hypoglycaemia (PPHH) is a recognised complication of various gastric surgeries in children, but rarely reported after oesophageal atresia repair. We report two children diagnosed with PPHH post-oesophageal surgery and the challenges of their management.Case 1: A 2-year-old boy diagnosed with oesophageal atresia at birth, was surgically repaired requiring six oesophageal dilatations the first year of life. At ...

Introduction: Childhood prolactinomas often occur as aggressive macro (1–4 cm) or giant (>4 cm) tumours, with little consensus regarding timing of optimal therapies.Aim: To highlight the phenotype and treatment outcome of childhood macroprolactinomas.Subjects and methods: Case-note review of 10 (five male) children (<18 years) (presenting to our centre between 2009 and 2017 with hyperprolactinaemia due to macro/giant-p...

Background: Nonsurgical development of nasal cerebrospinal fluid (CSF) leaks may occur in the setting of pituitary adenomas, especially following a favorable response of invasive prolactinomas to initiation of Dopamine Agonist (DA) therapy, but this has not previously described in children.Case description: A girl of Srilankan origin, aged 13.8 years, whose parents spoke no English, presented with headaches and secondary amenorrhea. Pituitary MRI reveale...