ESPE Abstracts

Background: We report the first case of Wolfram syndrome with heterozygous polymorphisms of WFS1 and PTF1A genes.Case description: 16 years-old girl presented with diabetes mellitus at 12 years of age with HbA1c of 8.4 %. The IA-2, Islet cell, Insulin antibodies (Ab) were negative. GAD Ab were positive 26 U/ml (nl< 4). C-peptide level was normal 1.33 ng/ml (1.1-4.4 ng/ml) even after 4 years of diagnosis. She was initi...

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...

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...