Background: Rabson Mendenhall Syndrome (RMS) is a rare genetic syndrome that is caused by the mutation in the insulin receptor gene. Such mutation consequently results in severe insulin resistance. Patients suffering from RMS develop constant hyperglycemia from a progressive decline of endogenous insulin secretion. Drug therapy for RMS includes metformin, pioglitazones, large doses of insulin alongwith recombinant human methionyl leptin or IGF-1. Here we describe a case of RMS who management poses a big dilemma due to unavailabity of these treatment options in a low income country like Pakistan.
Case presentation: A young Pakistani girl of 16 years of age presented in our Endocrine clinic with uncontrolled blood glucose levels. She was diagnosed as case of type i diabetes mellitus (DM) at the age of 4 years due to the complaints of polyuria, polydipsia and weight loss. She was being treated with insulin since then. Initially she attained a good diabetic control but later on, her diabetes worsened. She was never admitted to a hospital as a case of Diabetic Ketoacidosis (DKA). At the time of her visit to our clinic, she was taking 70 units of Humulin-70/30 twice a day. Her fasting insulin level was 589 μU/ml, HbA1C was 16.8% with self-monitoring of blood glucose levels being always recorded as High at home. Examination showed her body mass index of 17, short stature (less than 5th centile), severe acanthosis nigricans, coarse facial features, broad nose, thick lips, dental dysplasia, prognathism, hirsutism, small hands with thick fingersnails and abdominal distension. As genetic testing for RMS is not available in Pakistan, so she was diagnosed as a case of RMS with severe insulin resistance on clinical grounds only. Her insulin dosage was increased gradually to 520 units/day & Metformin+Pioglitazone were added (as insulin sensitizers) to the regimen, but still her blood glucose levels were uncontrolled. At last, she was admitted to hospital for diabetic control. There she received Metformin+Pioglitazone+20 units/day of insulin (regular+NPH) along with continuous insulin infusion @30 units/h bur still her blood glucose levels ranged between 400 and 600 mg/dl. As the 500 U/ml insulin is not available in a resource poor country like Pakistan along with the unavailability of latest treatment options like recombinant leptin or IGF-1, so it becomes a big dilemma for Endocrinologists about how to treat such patient with RMS. Currently the patient is having poorly controlled DM and has started developing multiple bullous, ulcerated lesions all over the body due to poor diabetic control.
Conclusion: Several challenges are encountered by healthcare professionals while treating patients of RMS in resource poor countries of the world. Concentrated insulin (U-500) is not available everywhere to ease the pain of several daily insulin injections and to improve compliance. We hope that future will hold promising horizon for such patients and the global equal access to its available treatment options will result in their better quality of life.
20 May 2017 - 23 May 2017