ESPE Abstracts

Introduction: Congenital hyperinsulinaemic hypoglycaemia of infancy (CHHI) associates with mutations in known genes in approximately 60% of cases. CHHI and mutations in HNF4A gene are reported in 0.5–2.4% in large series. A case of CHHI with renal Fanconi syndrome (FS) and hepatopathy is presented.Clinical description: Male newborn, gestational age: 38 weeks, weight: 4250 g +2.7 S.D., length: 55 cm +3.29 S.D., ...

Introduction: Developing an acute onset thyroid nodule is rare in children and usually associates with infectious or neoplastic disease; when linked to hyperthyroidism, the most likely diagnosis is toxic adenoma.Clinical description: 9-year-old boy with no relevant medical history was seen at the emergency department for acute cervical pain and tumor involving the left thyroid lobe with no inflammatory signs or history of trauma. Physical examination rev...