Neuromuscular

ACID MALTASE DEFICIENCY: INFANT & EARLY CHILDHOOD ONSET


H & E stain
Storage material in many muscle fibers

H & E stain

Storage & Vacuoles in many muscle fibers
  • Some muscle fibers are enlarged
    • Cytoplasm is replaced by clear or purple storage material
  • Other muscle fibers have moderate-sized clear vacuoles

Gomori trichrome stain

Gomori trichrome stain

NADH-stained membranes are displaced by storage material

NADH stain

NADH stain

PAS-stained muscle fibers
Diffusely increased staining in fibers
ATPase stained muscle fibers
Remaining intact fibers are mostly type 2

PAS stain

ATPase pH 9.4 stain

Acid phosphatase-stained muscle fibers
Increased staining of muscle fiber cytoplasm. Few acid phosphatase positive granules (Right)

Acid phosphatase stain

Acid phosphatase stain



Toluidine blue stained plastic sections


Earlier stage:
  Most glycogen storage is in membrane bound structures


Later stage:
  More glycogen storage is in cytoplasm


Also see: Acid maltase deficiency in adulthood; Phosphorylase deficiency

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10/17/2014