ECE2022 Eposter Presentations Diabetes, Obesity, Metabolism and Nutrition (318 abstracts)
1Conquest Hospital, Endocrinology, Hastings, United Kingdom; 2Mercy Hospital, General Internal Medicine, Hastings, United Kingdom; 3Eastbourne District General Hospital, General Internal Medicine, United Kingdom
23-year-old scaffolder, fit and well, presented several times to A&E with episodes of fitting which comprised of an energy surge followed by typical neuroglycopenic and autonomic signs of hypoglycaemia. He was only found to be hypoglycaemic after a severe episode where paramedics were called to his home and discovered his blood sugars to be 1.8 mmol/l with a serum insulin was measurable. His symptoms were moderately relieved by eating a combination of sugary food like honey and a starchy carbohydrate. Insulinomas are the most common cause of hypoglycaemia as a result of hyperinsulinism, though only occurring in 1-4 persons per million[1] They commonly present with autonomic symptoms such as sweating, tremor and palpitations and neuroglycopenic symptoms which include disorientation, behavioural and personality changes, visual disturbances, seizure, and coma. He had multiple presentation to emergency department with shoulder dislocation, Computed Tomography (CT) imaging demonstrated absence of the right pectoralis muscle indicative of Poland syndrome. Poland Syndrome (PS), occurring only in 1 in 20000 new-borns, typically presents with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, breast, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals[2] Currently the aetiology of PS is unknown though likely to be genetic. Various syndromic and metabolic potential causes of hyperinsulinism hypoglycaemia have been found, one of which may be due to a sporadic mutation in the UCMA gene, causing 10p13-14 duplication in Poland Syndrome. [3,4] . This case is the first reported case of insulinoma as the cause of hyperinsulinism along with Poland syndrome both of which are rare and unique clinical presentations in themselves. Hyperinsulinism/Insulinomas can present with normal bloods and ECG once symptoms have passed. There is an association between Poland Syndrome and Hyperinsulinism, this link can help in earlier diagnosis/ruling out of one another.
Test | Results | Units | Reference Range |
Plasma glucose (fasting) | 1.8 | mmol/l | 4.1 6.1 |
Serum C-Peptide | 612 | Pmol/l | 298 - 2350 |
Serum Insulin | 4.9 | mIU/l | 4.4 26.0 |
Assay provided by Kings Hospital. |