Neuromuscular

CENTRAL CORE DISEASE: Pathology

Adult
Child
DDx
Myopathy
Morphology
Ultrastructure


NADH stain
Cores
  Central clear zone in fibers stained for cytoplasmic or mitochondrial membranes
  NADH stain: Well defined central region of reduced staining
  Cores run whole length of muscle fibers



NADH stain


VvG stain
Cores are visualized well with VvG but not H&E stain

H&E stain

Central Core Disease: Adult


H&E stain

ATPase, pH 9.4

H&E stain

ATPase, pH 9.4
Adult: Myopathic changes in mild central core disease
  Fiber size: Variability
  Connective tissue: Normal or Mildly increased
  Internal nuclei: Some muscle fibers
  Muscle fiber types
    Marked type I muscle fiber predominence
    Some cores have loss of central myofibrillar structure

NADH stain
Internal architecture
  Cores are rounded & have sharply delineated borders
  Some muscle fibers have irregular centers, but not well formed cores

NADH stain


VvG
Some cores are visible on VvG or Gomori trichrome stains

Gomori trichrome

Gomori trichrome

All fibers are Type I: Central cores are visible

ATPase, pH 9.4


SDH stain

PAS stain
Mitochondria
Not present in cores
Glycogen
  Variably present in cores

Actin: Increased within central cores

Phalloidin stain


Central Core Disease with Myopathy


H&E stain

H&E stain

NADH stain

Central Core Disease: Young Child


H&E stain

H&E stain

H&E stain

Gomori trichrome stain

NADH stain

ATPase pH 9.4 stain

Cores: Ultrastructure

Central Cores
  Myofibrils: Disrupted organization
  Foci of loss of myofilaments
  No mitochondria

Histology of Central Cores in this muscle
Cores (Round, Central clear regions) in most muscle fibers

NADH stain
All muscle fibers are type 1
Cores are visible in some fibers

ATPase pH 9.4 stain

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3/19/2019