Early-onset epilepsy in complex II mitochondrial disorder related to the SDHA gene

Case presentation: A 2-year-old girl with refractory epilepsy since 4 months of age and persistent daily seizures even optimized therapy. At 15 age, she was presented global delay in neuropsychomotor development, axial hypotonia, no interaction. There also hyperreflexia, clonus, delayed dentition. Initial metabolic screening MRI were standard. The electroencephalogram displayed slowed disorganized baseline activity. She born at term good general condition, early jaundice requiring phototherapy. When asked about other complaints, chronic diarrhea difficulty gaining weight raised. Her family members healthy except for migraine her mother maternal half-siblings. 20 hospitalized epileptic status, continuous sedation. the time exhibited diffuse atrophy intensity signal changes basal ganglia. Exome sequencing test showed a compound heterozygous mutation SDHA gene confirming diagnosis complex II mitochondrial disease.