ESPE Abstracts

Background: Rabson-Mendenhall syndrome is an extremely rare, autosomal recessive, severe insulin resistance syndrome that results from a mutation in the insulin receptor (INSR) gene. Currently, no more than 55 identified cases have been described in the world. Below is a clinical case with a newly diagnosed Rabson-Mendenhall syndrome in a girl in the Republic of Kazakhstan.

Clinical case: A 7-year girl was admitted to the pediatric endocrinology program with complaints of increased blood glucose, thirst, increased appetite, darkening of the skin in folds, lethargy, and an enlarged abdomen. At birth at 34-35 weeks of gestation, weight 2150 g, height 44 cm, neonatal diabetes mellitus, transient form (HbA1c 6.67%, insulin 1000 μIU/ml) was diagnosed at the age of 40 days of life. Genetic testing was not available. According to medical records, she did not need insulin therapy in a bolus-basal regimen. From the age of 2 months, manifestations of acanthosis nigricans began, and then hyperkeratosis of the skin in the neck, armpits and inguinal region. On physical examination at current admission: psychomotor retardation, extensive acanthosis nigricans in skin folds and hyperkeratosis, thickening of the nails, hypertelorism, large low-set ears, prognathism, macrodontia, facial pastosity, frog belly, umbilical hernia, hepatomegaly. Laboratory examination revealed hyperglycemia according to the glucometer 26 mmol/l, insulin 183.7 μIU/ml, HbA1c-12.0%, leptin <0.7 ng/ml, IGF-1 <15 ng/ml, glucosuria, ketonuria and subcompensated ketoacidosis. Total cholesterol, HDL, LDL, triglycerides within reference values. The patient was treated by dehydration and infusion insulin therapy started, then high-dose insulin therapy in a bolus-basal regimen, metformin was added to the treatment when the condition stabilized, and also compliance with the diet. During the treatment ketoacidosis was stopped, stable fasting, nighttime and daytime glycemia was achieved, however, slight postprandial increases in glycemia persist. At this stage, the syndrome exposed clinically, the result of a genetic and molecular study in the work. Genetic testing result will determine the further appointment of recombinant IGF-1 in the treatment, the effective use of which in this syndrome is described in the literature.

Conclusion: The case shows the severe course of the Rabson-Mendenhall syndrome from the neonatal age and further progression with the development of complications in the absence of timely adequate treatment. Therefore, the knowledge about non-immune genetic forms of diabetes mellitus in children should be expanded with the aim of diagnostics, treatment and prevention of complications, and improvement of the life quality and expectancy.