Mitochondrial disorder related to the AFG3L2 gene in a boy with neurodevelopmental delay, ataxia and refractory epilepsy

Case presentation: J.A.R, 2 years old, only child of a couple with no history neurological diseases, born at term, pregnancy and delivery without complications, normal development in the first trimester life. At 4 months, delayed neuromotor was noticed, cephalic support, did not follow objects or search for faces, presented tongue fasciculation, hypotonia hyporeflexia. 5 months he had strabismus nystagmus; 10, diagnosed West syndrome, started using vigabatrin but due to evolution magnetic resonance imaging (MRI) uptake, it suspended, used other anticonvulsants achieving optimal seizure control. Currently, has refractory epilepsy, 12-hour VEEG showed moderately disorganized background activity, frequent polymorphic discharges either generalized multifocal myoclonic seizures; significant delay neuropsychomotor development, ataxia, dystonia, choreathetosis gastroesophageal reflux. In exome, mutation p.L772F:C>T AFG3L2 gene identified heterozygosity; changes this are associated autosomal dominant spinocerebellar ataxia type 28 recessive spastic ataxia-neuropathy syndrome.