Brain Imaging in Mitochondrial Respiratory Chain Deficiency
Brain Imaging in Mitochondrial Respiratory Chain Deficiency
Kearns–Sayre syndrome (KSS) is caused by mtDNA deletions of various sizes. Patients present with ophthalmoplegia, myopathy, progressive ptosis, pigmentary degeneration of the retina, deafness, small stature, cardiomyopathy, ataxia and absent deep tendon reflexes. CT scan in KSS often revealed calcium deposits in the globus pallidus and caudate nuclei. MRI often displayed a characteristic pattern of symmetrical lesions of the globus pallidus and thalamus with supra-cortical white matter anomalies. Other central nucleus involvement often included caudate nucleus, substantia nigra and red nuclei. The white matter abnormalities were symmetrical and tended to involve all supra-cortical white matter in a patchy or confluent manner, sparing the periventricular white matter. The cerebellar white matter may also be involved and stroke-like lesions and extensive brainstem abnormalities have been reported. Cerebellar and, to a lesser extent, cerebral atrophy may occur. In summary, KSS should be considered in patients showing a combination of basal ganglia involvement ± leucoencephalopathy and brainstem involvement, cortical atrophy and stroke-like lesions.
Mitochondrial DNA Deletion
Kearns–Sayre syndrome (KSS) is caused by mtDNA deletions of various sizes. Patients present with ophthalmoplegia, myopathy, progressive ptosis, pigmentary degeneration of the retina, deafness, small stature, cardiomyopathy, ataxia and absent deep tendon reflexes. CT scan in KSS often revealed calcium deposits in the globus pallidus and caudate nuclei. MRI often displayed a characteristic pattern of symmetrical lesions of the globus pallidus and thalamus with supra-cortical white matter anomalies. Other central nucleus involvement often included caudate nucleus, substantia nigra and red nuclei. The white matter abnormalities were symmetrical and tended to involve all supra-cortical white matter in a patchy or confluent manner, sparing the periventricular white matter. The cerebellar white matter may also be involved and stroke-like lesions and extensive brainstem abnormalities have been reported. Cerebellar and, to a lesser extent, cerebral atrophy may occur. In summary, KSS should be considered in patients showing a combination of basal ganglia involvement ± leucoencephalopathy and brainstem involvement, cortical atrophy and stroke-like lesions.
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