Building: Bourbon Cataratas Convention Centre, Foz do Iguaçu
Room: Cataratas I
Date: 2014-05-08 03:30 PM – 03:45 PM
Last modified: 2014-02-09
Abstract
Introduction: Mitochondrial diseases are a group of maternally inherited disorders, clinically heterogeneous produced by mitocondrialDNA mutations. Clinical features related to a specific mutation are usually variable and multisystemic
Objective: To evaluate clinical manifestations, genogram, testing and evolution of patients diagnosed in our center with mitochondrial diseases and their phenotypic characteristics in relation to the genotype with different point mutations of mitochondrial DNA(A3243G, G11778A, A8344G).
Methods: Retrospective descriptive and monitoring of all patients with mitochondrialDNA mutations confirmed. Review of clinical records.
Results: 45 patients were studied,9 present with A3243G mutation,33 G11778A mutation and 3 A8344G mutation. In patients with A3243G mutation, average age of onset symptoms was nine years: headache(5/9), stunting(9/9), sensorineural deafness(8/9), cardiac disorders(2/9). They present stroke-like episodes(9/9) between 6 to 21 years, generalized tonic-clonic seizures(9/9). Study:elevated lactic acid plasma-CSF relation(9/9), ragged-red fibers(RRF)(7/9), CT/MRI: basal ganglia calcification(8/9), areas of infarction(strokelike)temporoccipital(9/9). Evolution:progressive, 3 died. Their relatives were affected by deafness, diabetes, heart disease. 33 patients with G11778A mutation, 12 symptomatic. Presentation mean age 16 years, visual impairment(9/12), optic atrophy(7/12), impaired gait(4/12), dystonia(3/12). CT/MRI: putamens necrosis(4/12). Evolution: stable(5/12), slowly progressive(7/12). 3 brothers with A8344G mutation, average age presentation 10.6 years: all with myoclonic epilepsy, neuropathy, ataxia and FRR(+). Evolution: progressive.
Conclusions: In our series, A3243G mutation was related to mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes(MELAS) phenotype, G11778A mutation with Leber's optic neuropathy(LHON) phenotype and mutation A8344G with myoclonus epilepsy with ragged red fibers(MERRF) phenotype. Clinical manifestations, tests and maternally inherited form were the classically described for these phenotypes.