title: MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement.
abstract: We retrospectively studied the brain MRIs of 66 pediatric patients with mitochondrial disorder with central nervous system involvement. Forty-one patients had an identified genetic etiology. A predominance of cerebrocortical lesions was mainly seen in patients with MELAS and Alpers syndrome. Basal ganglia were predominantly affected in patients with Leigh syndrome. All patients with leukoencephalopathy had pathological spectroscopy. Cerebrocortical atrophy with agenesis/atrophy of the corpus callosum was seen in patients with congenital lactic acidosis with or without pyruvate dehydrogenase complex deficiency. The diagnostic approach used in our study--from the neuroanatomical/neurofunctional lesion to disease identification--assists the physician in the use of brain neuroimaging early in the diagnostic work-up of suspected mitochondrial disorders.
authors.affiliation: Department of Pediatrics, University of Gothenburg, The Queen Silvia's Children Hospital, SE-416 85 Gothenburg, Sweden. kalliopi.sofou@vgregion.se
authors.forename: Kalliopi
authors.initials: K
authors.lastname: Sofou
authors.forename: Karin
authors.initials: K
authors.lastname: Steneryd
authors.forename: Lars-Martin
authors.initials: LM
authors.lastname: Wiklund
authors.forename: Már
authors.initials: M
authors.lastname: Tulinius
authors.forename: Niklas
authors.initials: N
authors.lastname: Darin
mesh_terms: D000293:Adolescent; D001921:Brain / Q000000981:diagnostic imaging* / Q000473:pathology*; D002493:Central Nervous System Diseases / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D028361:Mitochondrial Diseases / Q000150:complications* / Q000175:diagnosis*; D011859:Radiography