Value of brain magnetic resonance imaging in mitochondrial respiratory chain disorders.
Mitochondrial respiratory chain (MRC) disorders have variable clinical manifestations which are mainly neurologic. Diagnosis in children is more complex than in adults because the classic phenotype, ragged red fibers, and mtDNA mutations are rarely seen in children. Moreover, clinical manifestations of disease in developing brains are less explicit. Although not specific, neuroimaging may be contributory to the diagnosis of these disorders in pediatric patients. Brain magnetic resonance images were reviewed for 133 pediatric patients investigated for a MRC disorder at a single center over a period of 10 years (1997-2006), in an attempt to identify distinctive neuroimaging features of MRC defects. Patients fit into four groups, according to the Bernier criteria: definite (63 cases), probable (53 cases), possible (7 cases) and unlikely diagnosis (10 cases). Brain atrophy (41 cases), supratentorial white matter lesions (14 cases), basal ganglia involvement (9 cases), and delayed myelination (9 cases) were the most frequent anomalies in the definite group, and 8 patients presented Leigh syndrome. Neuroimaging findings of the 63 children in the definite group were compared with the remainder and with those in the possible and unlikely groups. There were no significant differences in brain images between the groups analyzed, and therefore no distinctive brain imaging features were identified specific for MRC disorders.
Metabolic Diseases Unit, Luís Borges Center for Child Development, Pediatric Hospital of Coimbra-CHC EPE, Coimbra, Portugal. diogo.luisa@gmail.com
Luísa
L
Diogo
Miguel
M
Cordeiro
Paula
P
Garcia
Isabel
I
Fineza
Cristina
C
Moura
Catarina Resende
CR
Oliveira
Margarida
M
Veiga
Teresa
T
Garcia
Manuela
M
Grazina
D000140:Acidosis, Lactic / Q000453:epidemiology / Q000473:pathology; D000293:Adolescent; D001284:Atrophy / Q000453:epidemiology / Q000473:pathology; D001479:Basal Ganglia / Q000473:pathology / Q000503:physiopathology; D001921:Brain / Q000473:pathology* / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D006801:Humans; D007888:Leigh Disease / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D017241:MELAS Syndrome / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D028361:Mitochondrial Diseases / Q000235:genetics / Q000378:metabolism* / Q000503:physiopathology*; D017240:Mitochondrial Myopathies / Q000453:epidemiology / Q000473:pathology; D024101:Mitochondrial Proteins / Q000235:genetics; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000453:epidemiology / Q000473:pathology; D012720:Severity of Illness Index
D004272:DNA, Mitochondrial; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; C092928:Surf-1 protein