ESPE Abstracts

IMNEPD is a mitochondrial disease caused by homozygous mutations in the PTRH2 gene, a nuclear gene coding for a primary mitochondrial protein. IMNEPD was first described in 2014. So far only 3 other case reports have been published, reporting on a total of 15 patients. We report on two affected siblings of whom the girl developed an antibody negative diabetes at 13 years of age with typical symptoms (polyuria, polydipsia, weight loss of 1,5 kg), and without diabetic k...

McCune-Albright syndrome (MAS) is a rare genetic disorder caused by somatic activating mutations in the GNAS gene. Depending on the embryonic stages at which the mutation occurs, the phenotype of MAS may vary widely. Typical features include polyostotic fibrous dysplasia, café-au-lait skin lesions and multiple endocrinopathies, most frequently a peripheral precocious puberty. More rarely, patients have a liver involvement. We report the case of a 2 years-old boy with a ...