Dr Barbara Siri: Clinical Fellowship

Dr Barbara Siri from Ospendale Infantile Regina Margherita, Italy went to the Vatican City at the Ospedale Pediatrico Bambino Gesù (OPBG) and we are delighted to share the following report:

During my EPNS fellowship, I had the opportunity to deepen my clinical knowledge in Metabolic Diseases and in particular in the diagnosis and management of mitochondrial diseases. I have been involved in a project on a specific group of mitochondrial disease, single large-scale mitochondrial DNA deletions (SLSMDs) as Pearson syndrome and Kearns Sayre syndrome. In particular, we developed a clinical, neuroradiological, neurofunctional protocol able to trace the natural history of this particular group of mitochondrial disease. We examined the neurological involvement of KSS with a detailed neuroimaging and neurofunctional studies. Specifically, we investigated the visual impairment as recurrent feature in KSS with electroretinogram and visual evoked potentials. As these two studies are not able to investigate the optic pathway damage, we also investigate the retrochiasmatic optic pathway alteration in KSS with diffusion tractographic analysis and we found that DTI could be useful in tool to investigate the retrochiasmatic visual impairment in KSS. Moreover, based on clinical symptoms and laboratory findings we decided to investigate the involvement of on bone marrow in SLSMDs. Indeed, we observed, in half of these patients, multiple medullar white matter lesions suggesting a possible role of inflammation with breakage of blood brain barrier in the genesis of white matters lesionsin KSS.