Encefalopatía mitocondrial precoz por deficiencia aislada del complejo IV compatible con el síndrome de Alpers-Huttenlocher. A propósito de dos observaciones

• DOI: 10.33588/rn.2910.99062
• Publication Date: 2019-02-15T08:35:47Z
• Authors: Manuel Castro Gago; V. González Conde; Mª José Fernández...; Elena Rodrigo Sáez; Santiago Fernánde...; Adela Alonso Martín; Yolanda Campos Go...; Joaquín Arenas Ba...; Jesús Manuel Eirí...
• Keywords: Myoclonic epilepsy

Complex IV or cytochrome c oxidase (COX) deficiency is the most common disorder involving complexes of respiratory chain in pediatric age. Exceptionally, it has been reported association with Alpers syndrome disease, and its variant named progressive neuronal degeneration liver disease Alpers-Huttenlocher syndrome.To report cases two infants mitochondrial encephalomyopathy due to COX whom clinical, biochemical, neurophysiologic neuroimaging characterization suggested an associated syndrome.Two no-related males, one noncontributory family history other third-grade consanguineous parents developed refractory seizures from age 20 60 days, respectively. Additionally, myoclonic fits accounted on evolution condition. In first case, serial EEG recordings showed low amplitude polyspikes, polyspike waves very slow high alternating a trace burst-suppression activity. second right preponderant but also bilateral occasional desynchronization basal were recorded. both, rapidly cerebral atrophy, neurological deterioration pyramidal signs, tendency microcephaly, ensued. Accompanying this clinical picture, minor hepatic dysfunction, elevated protein levels CSF, lactic acidosis muscle homogenate demonstrated. moreover, cortical blindness severe failure occurred while receiving valproate, spite concomitant L-carnitine therapy.We believe that are consisted deficiency. Nevertheless, early encephalopathy, condition related same poliodistrophy, must be keep mind as possible diagnosis case 1.