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Washington University Experience | MUSCLE | Myopathies with Mitochondrial Pathology | 14A7B Case 14 025 - Copy
Higher magnification of image 14A7A. (electron micrographs) ---- Not shown: (NM report) There are no distinctive morphologic abnormalities or rods on Gomori trichrome. COX shows scattered small fibers with possibly large mitochondria. SDH shows no fibers with mitochondrial proliferation. PAS shows increased glycogen. Sudan stains large lipid droplets in small fibers. ---- Comment: (NM report) The workup showing an increased number of type IIC muscle fibers in a neonate was thought to represent a mitochondrial disorder with coenzyme Q10 deficiency. The increased lipid droplets and glycogen also suggest a mitochondrial disorder. Mitochondrial oxidative enzyme activities showed a probable mitochondrial disorder with reduction of Complex I and Complex II+III activities. Other mitochondrial oxidative enzyme activity levels are normal.
