ESPE Abstracts

Background: Rabson Mendenhall syndrome (RMS) is an autosomal disorder where severe insulin resistance is observed. Insulin levels decrease over time and suppress gluconeogenesis in the liver. Fatty acid oxidation is affected leading to frequent episodes of ketoacidosis. The changes in RMS are much faster than in patients with type 2 diabetes. RMS patients have a significantly reduced life expectancy and may die during adolescence or early adulthood.

Case presentation: A 15-year-old girl with poorly-controlled diabetes. She was diagnosed with RMS at the age of 50 days and her genetic study showed a homozygous mutation for R141W in the INSR gene. Her insulin level was high at 737μIU/mL, IA-2 and GAD antibodies were negative and C-peptide was > 18 ng/ml. There is a strong family history of RMS on her mother’s side. For the first six years, her hyperglycaemia was treated with an insulin pump (requiring up to 300 units of insulin/day) and oral Rosiglitazone, after which Rosiglitazone was replaced by oral Insulin-like-growth factor (IGF1). Over the last three years, she had four further episodes of DKA triggered by infections and severe lipodystrophy. A trial of leptin and subcutaneous IGF1 has failed. Currently, the patient is with a closed-loop insulin pump MiniMed 780G with a total daily dose of 261 units (4.6U/kg/day).

Results: During the last 15 years, the patient suffered of so many health, psychological, family and school issues. These issues were due to RMS itself, complications of diabetes, side effects of medications, and technology failure. All issues were tackled by our dedicated multi-disciplinary team by providing the most appropriate care, mediation and technology.

Conclusion: To act faster than the disease progression we need to know the whole list of issues our patient could face as this will help us to look at the entire picture rather than treating different pieces separately. Effective communication and cooperation between the teams is the key point and need to be organized through a family physician or by the team involved the most in patient care. Although technology has some limitations it still helps when used appropriately.