Mitochondrial diseases in children: neuroradiological and clinical features in 17 patients

Abstract

Mitochondrial diseases result from structural, biochemical or genetic defects of mitochondria, which contain the respiratory chain. They usually affect children and young adults. We report the CT and MRI findings in 17 patients under 14 years of age, the youngest reported to date, with various mitochondrial diseases. Although imaging studies may be normal negative in the early stages, follow-up usually shows many abnormalities, which depend on clinical status and the disease. We have recognised a spectrum of findings that can be divided into four patterns: nonspecific myelin lesions (8/17); grey-matter nuclei involvement (6/17); a leukodystrophic pattern; and calcification of the brain (1/17), although mixed forms, particularly myelin and grey-matter lesions are frequent.