Myotonia Congenita
CLCN-1: Gly230Glu Mutation, Dominant inheritance (Thomsen Syndrome)
52 year old patient
H&E stain
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Muscle fiber morphology: Small, Irrregular-shaped, Clear regions in cytoplasm
Fiber Sizes: Mildly varied
H&E stain
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Gomori trichrome stain
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Muscle fiber morphology
Small, Irrregular-shaped or Rounded, Clear regions scatttered in fiber cytoplasm
Gomori trichrome stain
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Congo red stain
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Muscle fiber morphology
Small, Irrregular-shaped or Rounded, Clear regions scatttered in fiber cytoplasm
VvG stain
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Muscle fiber morphology
A few fibers have dark-stained punctate regions in cytoplasm
NADH stain
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Muscle fibers: Internal architecture
Darker (Type 1) fibers: Punctate or Irregular linear staining
Lighter (Type 2) fibers: Linearization of internal architecture
NADH stain
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NADH stain
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ATPase pH 9.4 stain
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Muscle fibers
Irrregular "cracks": More prominent in type I fibers
ATPase pH 4.3 stain
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Muscle fibers
No 2C fibers
ATPase pH 4.6 stain
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Muscle fibers
Many 2B fibers fibers
Esterase stain
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Neuromuscular junctions
Several patches of esterase staining
Acid phospbhatasestain
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Muscle fibers
No lipofuscin
VvG stain
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Muscle spindle
Unusual feature: Small, thick-walled vessels inside spindle
Myotonia Congenita
CLCN-1: Gly230Glu Mutation, Dominant inheritance (Thomsen Syndrome)
15 year old patient
H&E stain
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Muscle fibers
Varied size
Few small angular fibers
Gomori trichrome stain
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Muscle fibers
Internal architecture: Prominently stained
VvG stain
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NADH stain
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Muscle fibers: Internal architecture
Type 1 fibers: Dark & Continuous (Immature)
Type 2 fibers: Punctate or Irregular
NADH stain
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NADH stain
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ATPase pH 9.4 stain
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Muscle fibers
Type 2 fibers: Predominance; Mildly larger than type 1
ATPase pH 4.3 stain
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ATPase pH 4.6 stain
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Muscle fibers
Many Type 2B fibers: Larger than other fiber types
Acid phosphatase stain
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Muscle fibers
No lipofuscin
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5/10/2020