Rabson–Mendenhall Syndrome with Severe Insulin Resistance Type A: The Need to Act Faster than the Disease

Abstract

Abstract Introduction 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 presented 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 737 μIU/mL, insulinoma antigen 2 and glutamic acid decarboxylase antibodies were negative, and C-peptide was > 18 ng/mL. There is a strong family history of RMS on her mother's side. Her hyperglycemia was treated with an insulin pump (requiring up to 300 units of insulin/day) and oral rosiglitazone for the first 6 years. Rosiglitazone was replaced by oral insulin-like growth factor 1 (IGF1). Over the last 3 years, she had four further episodes of diabetic ketoacidosis triggered by infections and severe lipodystrophy. A trial of leptin and subcutaneous IGF1 has failed. The patient has a closed-loop insulin pump MiniMed 780G with a total daily dose of 261 units (4.6 U/kg/day). Results During the past 15 years, the patient suffered many health, psychological, family, and school issues. These issues were due to RMS itself, complications of diabetes, side effects of medications, and technology failure. Our multidisciplinary team tackled all issues 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 cooperation between the teams is crucial and needs to be organized through a family physician or by the team involved the most in patient care. Although technology has limitations, it still helps when used appropriately.