Rabson-Mendenhall syndrome (RMS) is a rare autosomal recessive disorder characterized by severe
insulin resistance, a condition in which the body's tissues and organs do not respond appropriately to the
hormone insulin.
Insulin resistance impairs
blood sugar regulation and ultimately leads to
diabetes mellitus. A 19-year-old male presented with
joint pain, blurring of vision, and generalized weakness. Investigations revealed
hyperglycemia (random
blood sugar (RBS) > 625 mg/dL,
glycosylated hemoglobin (HbA1c) 18%), as well as
sugars,
protein, and
ketone bodies in urine routine examination. An ultrasound of the abdomen was normal. Cardiac status was normal. Based on the clinical features, particularly the head to toe examination, skin changes, and the onset of
type 2 diabetes mellitus, RMS syndrome was considered. The
joint pain was alleviated with intravenous
tramadol. Actrapid®, a fast-acting
insulin, was given to control
sugar levels, along with
metformin.
Vitamin B12 and
pregabalin were also supplemented. A dermatological cream containing
ammonium chloride,
calcium lactate,
glycerin,
potassium chloride,
sodium dihydrogen phosphate, and
urea was given for skincare. It is an extremely
rare disease with a frequency of fewer than one million people worldwide. Most patients survive only up to 15 years of age, although some can live into their third decade of life. Hepatic gluconeogenesis and
fatty acid oxidation are affected, leading to
ketoacidosis. The progression is much faster in RMS. In RMS, the genetic defect affects the
insulin receptor (INSR) gene transcription with non-sense mutations and causes splicing defects. This results in premature chain termination and eventually to lower amounts of the
insulin receptor messenger
ribonucleic acid (
mRNA). Ultimately, the number and density of
insulin receptors in the plasma membrane are smaller, making the cells resistant to
insulin. Herein, we report the case of a 19-year-old patient with RMS who was treated in our hospital, leading to a successful improvement in symptoms and discharge of the patient.