PMC6109526_01
PMC6109526_02
(a) Frozen section, H&E stain, showed mild fiber size variation and increased central nuclei. (b) Frozen section, H&E stain, demonstrated chronic fibrosis, fiber size variation, occasional central nuclei, and scattered degenerating and regenerating fibers. (c) Frozen section, Gomori trichrome stain, revealed occasional rimmed vacuoles (arrow). (d) Frozen section, nonspecific esterase (NSE) stain, also revealed occasional tubular aggregates (arrow). (e) Frozen section, NADH-tetrazolium reductase (NADH-TR) stain, revealed occasional tubular aggregates.
CRIPA2018-5130143.001.jpg
PMC6109526_02_CRIPA2018-5130143.001.jpg
fig1
A muscle biopsy was performed at 9 years of age to evaluate the histologic features of the myopathy (Figure 1) and showed a tubular aggregate myopathy with rimmed vacuoles, moderate muscle fiber size variation, frequent atrophic and hypertrophic fibers, rare regenerating fibers, increased internal nuclei, no inflammation, and a mild type I fiber predominance.
Electron microscopy showed tubular aggregates (x 6000.).
CRIPA2018-5130143.002.jpg
PMC6109526_02_CRIPA2018-5130143.002.jpg
fig2
Electron microscopic examination confirmed the presence of tubular aggregates (Figure 2).