case_images: PMC5626808_01
case_images: (A,B) Axial and coronal FLAIR MRI at 4 years of age showed normal findings. (C,D) Axial T2-weighted MRI and coronal FLAIR MRI at 6 years of age showed no significant interval change. FLAIR, fluid attenuated inversion recovery; MRI, magnetic resonance imaging.
case_images: fneur-08-00520-g001.jpg
case_images: PMC5626808_01_fneur-08-00520-g001.jpg
case_images: F1
case_images: Electroencephalography of the patient showed epileptiform discharges, such as generalized sharp and wave discharges, but there were no specific findings on magnetic resonance imaging (MRI) (Figure 1).
case_images: H&E (A) and Gomori-modified TRC (B) showed no ragged-red fiber (RRF). Ultrastructural study showed increased large mitochondria (megaconia) in the intermyofibrillar and subsarcolemmal area [(C) 10,000x and (D) 15,000x].
case_images: fneur-08-00520-g002.jpg
case_images: PMC5626808_01_fneur-08-00520-g002.jpg
case_images: F2
case_images: Although increased numbers of mitochondria were noted in the myofilament and EM examination revealed megaconia, the characteristic findings of mitochondrial myopathy were not observed (Figure 2).