ESPE Abstracts

Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome (IPEX) is caused by mutations in the gene that encode for the transcription factor FOXP3. IPEX is a rare, often fatal disease. However, several cases present later onset, mild forms or less common clinical manifestations. We report a case who had de novo mutation of FOXP3 causing neonatal diabetes but without other features of IPEX syndrome. An 8 days old male, late preterm at 36 weeks, low birthweight 2200g...

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a mitochondrial multisystem disorder. The m.3243A>G pathogenic variant in the mitochondrial gene MT-TL1 is present in approximately 80% of individuals with MELAS. In this article, we report a 7-year-old girl with the classical MELAS phenotype. After the age of 1 year, she had recurrent episodes of nausea and vomiting. In this episode, she presented with focal seizures ...