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Case Reports
. 2011 Sep;44(3):448-51.
doi: 10.1002/mus.22149.

MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation

Valentina Emmanuele  1 , David S Silvers, Evangelia Sotiriou, Kurenai Tanji, Salvatore DiMauro, Michio Hirano
Affiliations
Case Reports

MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation

Valentina Emmanuele et al. Muscle Nerve. 2011 Sep.

Abstract

A 48-year-old man presented with a complex phenotype of myoclonus epilepsy with ragged-red fibers (MERRF) syndrome and Kearns-Sayre syndrome (KSS), which included progressive myoclonus epilepsy, cerebellar ataxia, hearing loss, myopathic weakness, ophthalmoparesis, pigmentary retinopathy, bifascicular heart block, and ragged-red fibers. The m.3291T>C mutation in the tRNA(Leu(UUR)) gene was found with 92% heteroplasmy in muscle. This mutation has been reported with MELAS, myopathy, and deafness with cognitive impairment. This is the first description with a MERRF/KSS syndrome.

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Figures

Figure 1
Figure 1
(A,C) Neuroradiologic findings. A–B: Transverse sections of FLAIR brain MRI study sequences showing cortical atrophy. C: Sagittal section of T1-weighted brain MRI study sequence showing cerebellar atrophy. (D) Left fundus photograph showing pigmentary retinopathy.
See this image and copyright information in PMC

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