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AJNR - American Journal of Neuroradiology

Publication Preview: Published November 7, 2007

American Journal of Neuroradiology 2008;29:392.

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American Journal of Neuroradiology
DOI 10.3174/ajnr.A0865

CASE REPORT

Clinical and Brain MR Imaging Features Focusing on the Brain Stem and Cerebellum in Patients with Myoclonic Epilepsy with Ragged-Red Fibers due to Mitochondrial A8344G Mutation

S. Ito, W. Shirai, M. Asahina and T. Hattori

From the Department of Neurology, Graduate School of Medicine, Chiba University, Chiba, Japan.

Please address correspondence to Shoichi Ito, MD, Department of Neurology, Graduate School of Medicine, Chiba University, 1-8-one Inohana, Chuo-ku, Chiba, 260-8670, Japan; e-mail: sito{at}faculty.chiba-u.jp

SUMMARY: We report 3 patients with myoclonic epilepsy with ragged-red fibers (MERRF) diagnosed by mitochondrial A8344G mutation. Cerebellar ataxia was the first symptom in all patients. Conventional brain MR imaging showed atrophy of the superior cerebellar peduncles and the cerebellum in all patients and brain stem atrophy in 2 patients. In diffusion tensor analysis, fractional anisotropy of the superior cerebellar peduncles was mildly decreased in 1 patient. There was a discrepancy between clinical disabilities (severe) and radiologic abnormalities (mild). This discrepancy and atrophy of the superior cerebellar peduncles and the cerebellum may be important findings suggesting a diagnosis of MERRF.