Article Figures & Data
Figures
- Fig 1.
Image in a boy aged 1 year 5 month with cognitive delay, dystonia, and nystagmus. Results of muscular biopsy established mitochondrial dysfunction. Axial T2-weighted MR image shows diffuse hyperintensity in the periventricular white matter. Note bilateral areas of necrosis.
- Fig 2.
Image in a boy aged 10 months with severe cognitive delay and repeated seizures. Results of muscular biopsy established mitochondrial dysfunction. Axial FLAIR MR image shows diffuse hyperintensity in the tegmentum pons, basilar pons, and cerebellar vermis.
- Fig 3.
Image in an asymptomatic boy aged 2 years. Axial FLAIR MR image shows hyperintensity in the bilateral periventricular white matter in the posterior trigonal regions.
- Fig 4.
Image in an asymptomatic boy aged 2 years. Axial T2-weighted MR image shows hyperintensity of the brainstem and around the dentate nuclei.
Tables
Characteristic No. Children 49 Girls 20 Boys 29 Mode of mother’s infection Past drug addiction 5 Transfusion 1 Sexual 40 Mother’s geographic origin* Europe 14 Sub-Saharan Africa 26 North Africa 4 Other 2 Premature births <32 wk 0 <37 wk 9 ≥37 wk 40 Birth weight <2500 g 11 ≥2500 g 34 Not known 4 Birth Vaginal delivery 30 Cesarean delivery 18 Not known 1 Perinatal prophylactic treatment Zidovudine 13 Zidovudine + lamivudine 19 Zidovudine + other 2 Zidovudine + lamivudine + other 15 * All of the children were born in France.
Children No. With mitochondrial dysfunction 22 Cognitive delay 15 Dystonia 6 Nonfebrile seizures 6 Severe malaise 3 Nystagmus 2 Other 4 Without mitochondrial dysfunction 27 Neurologic symptoms 14 Cognitive delay 5 Nonfebrile seizures 3 Repeated febrile seizures 2 Dystonia 2 Nystagmus 1 Acute idiopathic polyneuritis 1 Other 2 Persistent biochemical perturbations 7 Asymptomatic 6 Finding κ Normal vs abnormal* 0.83 ± 0.16 Diffuse anomaly of the white matter 0.93 ± 0.15 Anomaly of the brainstem 0.87 ± 0.14 Anomaly of the basal ganglia 0.78 ± 0.15 Supratentorial atrophy 0.82 ± 0.15 Note.—Data are the mean ± standard deviation.
* Normal MR images included those showing an isolated anomaly of the posterior white matter.
Finding Children with Mitochondrial Dysfunction (n = 22) Children without Mitochondrial Dysfunction (n = 27) Total (n = 49) Normal 6 19 25 Abnormal 16 8 24 White matter Necrosis 3 0 3 Diffuse 9 4 13 Posterior 4 1 5 Brainstem 9 5 14 Basal ganglia 4 0 4 Supratentorial atrophy 8 2 10 Other* 1 2 3 * Vermian atrophy, n = 1; hyperintensity in one cerebellar hemisphere, n = 1; and hyperintensity in both cerebellar hemispheres, n = 1.
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