Patients with mitochondrial diseases followed up at an outpatient clinic in Belo Horizonte: a case series

Case presentation: In a referral hospital for rare diseases in Belo Horizonte, Minas Gerais, we followed up five patients with molecular diagnosis of mitochondriopathies. A.E.S.V, 3 years and 11 months, diagnosed Leigh Syndrome due to homozygous point mutation the NDUFAF5 gene, presented delayed onset neuropsychomotor development associated central characteristic hypotonia, difficult-to-control epilepsy brain MRI multiple nodular lesions T2/FLAIR affecting parenchyma. M.R.M.R, 2 months old, has POLG had as clinical presentation regression neurodevelopmental milestones, epilepsy, orofacial dyskinesias, unaltered MRI. H.R.R, NDUFS1 at 9 milestones spasticity showed an extensive area signal hyperintensity T2/Flair compromising subcortical periventricular white matter bilaterally symmetrically, some areas cystic degeneration. A.B.T.G, pathogenic SURF1 gene (mitochondrial respiratory chain IV complex deficiency), dystonia 1 year 6 months. E.S.S, 15 MT-ATP6 (respiratory V lowered level consciousness, ataxia vomiting 8 old. Both symmetrical hypersignal basal ganglia on T2/FLAIR.