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...

Intoduction: Pheochromocytoma is a neuroendocrine disease rarely encountered in childhood, and it’s complications are even less frequent among children. Catecholamine-induced cardiomyopathy (CICMPs) is a rare complication of pheochromocytoma with a reported incidence of 8–11 % of all patients. Symptoms are often accompanied by hypertension, which is most common among children. However, classical symptoms such as hypertension, paroxysmal headache, s...

Background: Congenital generalized lipodystrophy is a rare and serious genetic disorder that has a profound impact on the quality of life of individuals. The worldwide prevalence of disease is estimated at 1 in 12 million people. It causes significant metabolic abnormalities and may reduce the life expectancy of children and young adults due to the late diagnosis and absence of adequate treatment. Below, we report the case of an 8-year-old boy with Berardinell...