Respiratory chain complexes defects: Complex IV (cytochrome c oxydase) deficiency, with benign reversible infantile myopathy.
Incidence
Very rare (2 pts). No cases reported in Saudi Arabia.
Clinical Characteristics
Weakness and hypotonia, Muscle Sx, Lactic acidosis with fat dropplets in muscle biopsy. Improve with time by 1 year. Spontaneous recovery by 18 months (1-3 years).
Precipitants
none
Provocation Tests
none
Diagnostic Procedures
EB-F, EB-muscle. Transitory changes.