摘要
Mitochondrial disorders are phenotypically varied, with serious clinical repercussions. Among them, there is the deficiency of combined oxidative phosphorylation of type 20, which occurs due to a defect in the VARS2 gene. This article presents a case of a 2-year-old female with progressive myoclonic epilepsy and psychomotor regression, with refractoriness to multiple anticonvulsants. The diagnosis was only made after the examination was carried out. Therefore, this article highlights the aspects of this rare disease and the importance of the exome for the diagnosis of rare conditions.
Mitochondrial disorders are phenotypically varied, with serious clinical repercussions. Among them, there is the deficiency of combined oxidative phosphorylation of type 20, which occurs due to a defect in the VARS2 gene. This article presents a case of a 2-year-old female with progressive myoclonic epilepsy and psychomotor regression, with refractoriness to multiple anticonvulsants. The diagnosis was only made after the examination was carried out. Therefore, this article highlights the aspects of this rare disease and the importance of the exome for the diagnosis of rare conditions.
作者
Paulo Roberto Matos-Neto
Lucas Antonissen Lima Verde
Airton Ferreira da Ponte-Filho
Luís Eduardo Oliveira Matos
Amandha Espavier Trés
Paulo Roberto Lacerda Leal
Gerardo Cristino-Filho
Regina Coeli de Carvalho Porto Carneiro
Paulo Roberto Matos-Neto;Lucas Antonissen Lima Verde;Airton Ferreira da Ponte-Filho;Luís Eduardo Oliveira Matos;Amandha Espavier Trés;Paulo Roberto Lacerda Leal;Gerardo Cristino-Filho;Regina Coeli de Carvalho Porto Carneiro(Faculty of Medicine, Federal University of Cear, Sobral, Cear, Brazil;Department of Neurosurgery, Federal University of Cear, Sobral, Cear, Brazil;Department of Neuropediatrics, Federal University of Cear, Sobral, Cear, Brazil)
