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. Author manuscript; available in PMC: 2009 Dec 1.

Published in final edited form as: Mitochondrion. 2008 May 23;8(5-6):396–413. doi: 10.1016/j.mito.2008.05.003

Axial MR images of an adolescent/young adult woman with Alpers syndrome. Genetic testing revealed that she was homozygous for the p.A467T mutation in the polymerase gamma 1 gene. She presented with episodic ataxia at age 5 with mild sensorineural hearing loss. MR imaging at that time was normal. At age 15 years she developed epilepsia partialis continua (EPC). Axial FLAIR imaging done at this time showed a right occipital lobe hyperintensity (Figure 4A). Seizures were controlled and she remained seizure free for 8 years. She subsequently developed segmental myoclonus and was treated with Valproic acid and developed fulminate liver failure. Axial FLAIR imaging just prior to death showed resolution of right occipital lobe hyperintensity and virtually normal MRI (Figure 4B).

Axial MR images of an adolescent/young adult woman with Alpers syndrome. Genetic testing revealed that she was homozygous for the p.A467T mutation in the polymerase gamma 1 gene. She presented with episodic ataxia at age 5 with mild sensorineural hearing loss. MR imaging at that time was normal. At age 15 years she developed epilepsia partialis continua (EPC). Axial FLAIR imaging done at this time showed a right occipital lobe hyperintensity (Figure 4A). Seizures were controlled and she remained seizure free for 8 years. She subsequently developed segmental myoclonus and was treated with Valproic acid and developed fulminate liver failure. Axial FLAIR imaging just prior to death showed resolution of right occipital lobe hyperintensity and virtually normal MRI (Figure 4B).