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Leigh syndrome, cytochrome C oxidase deficiency and hypsarrhythmia with infantile spasms
C Y Tsao1, M Luquette, J A Rusin
1Department of Pediatrics, Ohio State University, USA.
Clinical EEG (Electroencephalography)
|October 31, 1997
Insights
A rare patient presented with infantile spasms, hypsarrhythmia, and Leigh syndrome due to cytochrome c oxidase deficiency. This case highlights Leigh syndrome as a crucial consideration in diagnosing infantile spasms.
Area of Science:
- Neuroscience
- Genetics
- Pediatric Neurology
Background:
- Infantile spasms (IS) are a severe epilepsy syndrome in infants.
- Leigh syndrome is a rare inherited neurometabolic disorder affecting the central nervous system.
- Cytochrome c oxidase deficiency is a mitochondrial disorder that can cause Leigh syndrome.
Abstract:
A rare patient with infantile spasms, hypsarrhythmia, cytochrome c oxidase deficiency and Leigh syndrome is reported. Although rare, infantile spasms and Leigh syndrome may occur simultaneously. Leigh syndrome should be included in the differential diagnosis of infantile spasms.