Neuromuscular

MITOCHONDRIAL DISEASE: Megaconial Myopathy

Congenital Myopathy
Selenium deficiency
Large mitochondria: Zellweger
  PEX12
  PEX16



H&E stain
Ongoing Myopathy, Active
  Muscle Fibers: Necrosis & Regeneration, Scattered damage

Gomori trichrome stain
Muscle fibers: In varied stages of Necrosis & Regeneration

H&E stain


H&E stain
Myopathy, Chronic
  Muscle fibers size: Varied
  Internal nuclei: Often Single & Central

H&E stain

H&E stain


Gomori trichrome stain
Muscle fibers: Stippling

Gomori trichrome stain

VvG stain
Stippling: Toward periphery of muscle fibers

H&E stain

AMPDA stain


NADH stain
Muscle Fiber Internal Architecture
  Center of muscle fibers: No staining for sarcoplasmic reticulum
  Periphery of muscle fibers: Punctate staining

NADH stain

Mitochondria: Large; Non-uniform distribution

COX stain

COX stain

COX stain
Mitochondria: Large; Non-uniform distribution

COX stain


SDH stain
Mitochondria
  Large
  Most in periphery of muscle fibers

SDH stain

SDH stain

SDH stain


ATPase pH 9.4 stain

ATPase pH 4.3 stain

Acid Phosphatase stain
Type 2 fibers are larger than type 1
Large mitochondria: More common in type 2 fibers
Scattered type 2C muscle fibers
 
Necrotic Muscle Fibers
 


Sudan stain

PAS stain
Muscle fibers: Lipid mildy increased; Glycogen increased

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Return to Mitochondrial syndromes
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12/9/2016