V. Leukodystrophy-like Changes Slide

V. Leukodystrophy-like Changes

Fig 8. 4 yr old girl with hearing loss and lactic aciduria. A, Axial IR and, B, axial T2 FSE images reveal abnormal signal within the white matter of the occipital horns. No significant white matter volume loss is present. A leukodystrophy or demyelinating disorder can have a similar appearance.

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Fig 9. 5 yr old girl with bilateral hearing loss, growth delay, and lactic aciduria. A. Sagittal T1 weighted and B, axial FLAIR images demonstrate abnormal confluent periventricular white matter signal. Small areas of cystic change within the abnormal white matter can also be seen. This appearance is suggestive of a leukodystrophy, but can be seen with mitochondrial disorders as well.

Fig 10. 12 yr old girl with decreased muscle mass, poor growth and retinitis pigmentosa. A, Axial FLAIR sequence shows abnormal signal involving cerebellar and perirolandic white matter. B. Axial T2 FSE demonstrates perirolandic white matter signal abnormality (arrow). No basal ganglia lesions were present. The patient was diagnosed with possible Kearns-Sayre syndrome. It should be kept in mind that there is considerable overlap between the appearance of various mitochondrial OXPHOS disorders.

Fig 11. 10 yr old boy with seizure disorder, developmental delay and hypotonia. His half-brother died of presumed mitochondrial disorder. A, Axial FLAIR and B, coronal T2 FSE images reveal a hazy diffuse increase in white matter signal and loss of conspicuity of gray-white differentiation. This "haziness" and loss of gray-white differentiation was noted in other cases as well. No significant volume loss is seen.

A.	B.
Fig 12. 5 yr old boy with ataxia, hearing loss and supranuclear ophthalmoplegia. A, B. Axial and coronal T2 FSE images demonstrate complete lack of myelin throughout the brain. A mitochondiral OXPHOS defect should be included in the differential of this pattern of disease.