title: 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.
authors.affiliation: Servicio de Radiodiagnóstico, Hospital Universitario 12 de Octubre, Madrid, Spain. almugo@omc.telprof.es
authors.forename: A
authors.initials: A
authors.lastname: Muñoz
authors.forename: F
authors.initials: F
authors.lastname: Mateos
authors.forename: R
authors.initials: R
authors.lastname: Simón
authors.forename: M T
authors.initials: MT
authors.lastname: García-Silva
authors.forename: S
authors.initials: S
authors.lastname: Cabello
authors.forename: J
authors.initials: J
authors.lastname: Arenas
mesh_terms: D001921:Brain / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003287:Contrast Media; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis*; D005260:Female; D019786:Gadolinium DTPA; D006801:Humans; D007223:Infant; D007625:Kearns-Sayre Syndrome / Q000175:diagnosis*; D007888:Leigh Disease / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis*; D014057:Tomography, X-Ray Computed
chemical_list: D003287:Contrast Media; D019786:Gadolinium DTPA