Onset   Infant   Child   Adolescent   Adult Storage patterns   Ultrastructure Vascular

H&E stain

Adolescent Onset

H & E stain

Gomori trichrome stain

H & E stain

H & E stain

H & E stain

• Vacuoles
  • Border: Sharp; No rim
  • Location: Cytoplasmic & Subsarcolemmal
  • Size: Variable: Small & Large, May occupy most of fiber area
  • Multiple in individual fibers
  • Most prominent in Type I muscle fibers
  • More prominent in some muscles, especially weak ones
  • Contents: Pale punctatew or wispy red material
• Muscle fibers: Other features
  • Necrosis: Rare fibers (Above; Arrow)
  • Size: Varied
  • Myonuclei: Large

H & E stain Clear vacuoles   Size: Small or Large   Location: Subsarcolemmal or Central   Number: Multiple in individual muscle fibers   May contain myonuclei   May be marked variation in muscle fiber involvement (Below): Some severe, Others none

H & E stain

H & E stain

Gomori trichrome stain

Gomori trichrome stain

Gomori trichrome stain

Gomori trichrome stain

VvG stain

VvG stain

Acid phosphatase stain

Acid phosphatase stain

LAMP2 stain

LAMP2 stain

Esterase stain

PAS stain

• Diffuse, or patchy, increase in glycogen staining in muscle fiber cytoplasm
• Variably present in muscle fibers
• Vacuoles: Not clearly delineated; Many have no staining
• Aggregates: PAS+ (Arrow, Above)

PAS stain

PAS stain

ATPase pH 9.4 stain

NADH stain

ATPase pH 9.4 stain stain

ATPase pH 4.3 stain

ATPase pH 4.3 stain

ATPase pH 4.6 stain

ATPase pH 4.3 stain

Mid-Childhood Onset

• Clear material: In small or large vacuoles, May replace most of a muscle fiber (Above), or
• Metachromatic purple granular material: Often replacing much of muscle fiber cytoplasm (Below)
• Aggregates: Stain best for acid phosphatase

H & E stain

H & E stain

• Clear vacuoles: Small or Large
• Purple granular material: Often replacing much of muscle fiber cytoplasm (Below)
• Darker staining cytoplasmic aggregates (Bottom row; Left; Arrow)

Gomori trichrome stain

Gomori trichrome stain

Plastic sections: Toluidine blue stain

Acid phosphatase positive granules in muscle fibers Present in focal regions in fibers No correlation with vacuoles or storage material
Acid phosphatase stain	Acid phosphatase stain

PAS stain

PAS stain

• Glycogen staining of vacuoles and cytoplasm in individual muscle fibers
• Some increased cytoplasm staining is present in many muscle fibers
• Cytoplasmic staining can be variable within fibers

PAS stain

LAMP2 lysosomal granules: Scattered in muscle fiber cytoplasm; Not in vacuoles

LAMP2 stain

ACID MALTASE DEFICIENCY

Adult Onset

H&E stain
Gomori Trichrome stain	Storage Contents & Aggregates Clear material In muscle fibers with round vacuoles (Dark arrow) Cytoplasmic aggregates Stained by GT & VvG (Light arrows)
VvG stain

Acid Phosphatase stain

Lysosomal Granules Location: Cytoplasmic Size Large: May have features of   Autophagic vacuoles with sarcolemmal features (AVSF) Small: Multiple punctate regions Can occur in Morphologically normal muscle fibers Muscle fibers with cracks or GT or VvG positive aggregates May be most sensitive histochemical feature of Acid maltase deficiency Stains Acid phosphatase stain: Left LAMP-2 stain: Below

LAMP2 stain

ATPase pH 9.4 stain	Fiber types Aggregates occur in both type 1 & type 2 muscle fibers

NADH stain	Internal architecture Abnormally punctate Small, irregular, internal clear regions

Patient	Normal Control
Glycogen content (PAS stains): May appear near normal

Caveolin-3 stain

Aggregate Membranes Nosology Autophagic Vacuoles with Sarcolemmal Features (AVSF) Have features of sarcolemmal, surface membranes May be continuous with surface membrane Stain for Membrane: Caveolin-3; Dystrophin Contents: LAMP-2; Acid phosphatase

Caveolin-3 stain

Dystrophin (Dys-2) stain	Aggregate membranes Nosology Autophagic Vacuoles with Sarcolemmal Features (AVSF) Have features of sarcolemmal, surface membranes May be continuous with surface membrane Stain for Membrane: Caveolin-3; Dystrophin Contents: LAMP-2; Acid phosphatase

Dystrophin (Dys-2) stain

Desmin stain

Desmin Increased in cytoplasm of some smaller muscle fibers May accumulate around some AVSFs

Acid Maltase Deficiency: Myofiber Storage Patterns

H&E stain

H&E stain

H&E stain

Gomori trichrome stain

Gomori trichrome stain

VvG stain

H&E stain

H&E stain

Gomori trichrome stain

Gomori trichrome stain

Toluidine blue stain

AMPDA stain

VvG stain

Acid phosphatase stain

Acid phosphatase stain

From: Robert Schmidt

From: Robert Schmidt

From: Robert Schmidt

From: Robert Schmidt

From: Robert Schmidt

From: Robert Schmidt

Acid Maltase Deficiency: CNS Aneurysms

Acid maltase deficiency, Adult onset: Fusiform basilar aneurysm