ESPE Abstracts

Background/aims: Incidence of Autoimmune disease dramatically increases in children and adolescents in the past decades. But in other hand case of APS is rare. Signs and symptoms appear with different combination during the lifespan in different patients. Here we report case of APS syndrome with unusual presentation.Case presentation: Patient 16.4 years old boy with diabetes mellitus since the age of 2.6 years. Mother died at age 40, when boy had 5 years...

Background: Over the recent years there have been more and more cases with DM type 1 and thyroid autoimmune diseases.Objective: To study course of autoimmune thyroiditis in children and adolescents with DM type 1.Methods: From 758 children with DM type 1 we identified high risk cohort (thyroid gland palpation and clinical symptoms) and performed thyroid US and TSH, fT4, anti-TPO, anti-TG, and HbA1c testing. Cohort group,...

Background and aims: Wolfram syndrome is rare, progressive autosomal recessive disease with characteristic neurological and endocrine features. Signs and symptoms appear with different combination during the lifespan in different patients. Here we report the family case of Wolfram syndrome with different phenotype variable.Case presentation: Patient 4 years and 4 months old girl with diabetes mellitus since the age of 2 years and 3 months. Born term, hea...

Background: WS is a rare, severe neurodegenerative disease. Despite the certain sequence of development of clinical manifestations during this syndrome, for each patient the expression of the spectrum, sequence, age and severity of the disease is unique. In recent years, the cases of urinary tract dysfunction (UTD) in this syndrome have also increased. We had 2 such cases with UTD in our practice. Here we report one of them.Case ...