ESPE Abstracts

Background: Von Hippel-Lindau (VHL) syndrome is a rare autosomal dominant genetic disorder characterized by retinal and central nervous system hemangioblastomas, pheochromocytomas and multiple cysts in the pancreas and kidneys, with increased risk of malignant degeneration.Case presentation: A 9-year-old boy with uncomplicated premorbid and family history presented with ice-cold hands and profuse night sweating on the he...

Background: STAT1 mutations can cause an extensive spectrum of disease, varying from severe bacterial and viral infections to mild disseminated mycobacterial disease, also chronic mucocutaneous candidiasis. Many patients present with autoimmune manifestations as type 1 diabetes, hypothyroidism and systemic lupus erythematosus. There are risks of cancers and cerebral aneurysms.Aim: To present the clinical manifes...

Aim: To present some therapeutic difficulties in patients with congenital generalized lipodystrophy (CGL) - a rare autosome recessive disorder characterized by complete absence of adipose tissue. For many years therapy was aimed only at metabolic consequences. In the past few years new pathophysiologic treatment has become available.Methods and materials: We present four girls – currently 25, 22, 16 and 15 years ol...