Abstracts

Rationale: Infantile spasms are an age-specific epileptic encephalopathy that includes psychomotor deterioration. It can be caused by various conditions including hypoxia, chromosomal anomaly, malformation of brain development, metabolic disorders. Mitochondrial disorders, thought to be relatively rare in the past, are now regarded as the most frequently diagnosed metabolic abnormality. (Ann Neurol 2001;49:377-83). The purpose of this study is to identify the specific characteristics of infantile spasms associated with mitochondrial disorders.Methods: We conducted a retrospective review of the medical records of children diagnosed as infantile spasms with mitochondrial disorders. The diagnosis of mitochondrial disorders was confirmed by clinical, biochemical, pathological and molecular genetic criteria. Age at seizure onset, seizure type, electroencephalogram findings, magnetic resonance imaging features, developmental state, psychological problems and treatment outcome in patients were collected and analyzed.Results: A total of 80 children were identified. The median age at seizure onset in patients was 8 months. The most common seizure type was spasms. And there were 3 patients who have hypasrrhythmic pattern of electroencephalogram without spasms. The median number of antiepileptic drugs was 3, ranging from 0 to 6. Cocktail therapy and a ketogenic diet have been reported to result in effective clinical improvement to the patients in this study. Many of the patients have mental retardation, and pshychological problems, especially autism. Some of the patients in this study showed involvement of of order organ such as heart, kidney, ears, and eyes and different progress.Conclusions: The patients who diagnosed infantile spasms with mitochondrial disorders had in common in some parts of the progress. However they showed heterogeneous progress as well, since they can involve different systems and manifest at distinct ages with variable course.