PMC5626808_01
(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.
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F1
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).
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].
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F2
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).