Se ha crisi e MaNGIE male pensa a mitocondiopatia

Abstract

The diagnosis of mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome, using next-generation sequencing (NGS) panel for genes associated with encephalopathy, was finally made in a 4-year-old girl who presented with marked dystrophy (with diarrhoea, abdominal pain and dysphagia) and postural instability, along with subsequent epileptic seizures.