Acid maltase child path

ACID MALTASE DEFICIENCY: INFANT & EARLY CHILDHOOD ONSET

Adult pathology
Child pathology
1 year
1 year, Post treatment
1 month

Acid Maltase Deficiency: 1 year-old Child

H & E stain
Storage material in many muscle fibers

Acid maltase deficiency

Storage material & Vacuoles in many muscle fibers
Cytoplasm is replaced by
- Storage material: 2 types; Clear or Purple
- Vacuoles: Moderate-sized, Clear, Round
- Post treatment
  - Clear storage material is reduced in amount
  - Most storage material is purple
Some muscle fibers are enlarged

H & E stain

Gomori trichrome stain

Acid maltase deficiency

Cytoplasm is replaced by
- Storage material & Vacuoles in many muscle fibers
- Storage material: 2 types; Clear or Purple
- Vacuoles: Moderate-sized, Clear, Round
- Post treatment
  - Clear storage material is reduced in amount
  - Most storage material is purple
Some muscle fibers are enlarged

Gomori trichrome stain

Gomori trichrome stain

Cytoplasmic membranes (NADH+ Endoplasmic reticulum): Displaced by storage material

NADH stain

NADH stain

PAS stain

PAS-stained muscle fibers
Glycogen: Diffusely increased staining in fibers

PAS 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
Location: Muscle fiber cytoplasm
Frequency: Scattered muscle fibers
Pattern: Diffuse; Few acid phosphatase positive granules
Compare to: Post treatment

Acid phosphatase stain

Acid phosphatase stain

Toluidine blue stained plastic sections

Glycogen storage
Replaces regions of cytopasm in many muscle fibers
May be free in cytoplasm or membrane-bound
Autophagic Vacuoles
Present in muscle fiber cytoplasm (Below; Left)

Earlier stage:
Most glycogen storage is in membrane bound structures

Later stage:
More glycogen storage is in cytoplasm

Acid maltase deficiency: Glycogen accumulation in other tissues

From L Gutmann
Acid maltase deficiency: Glycogen deposits (Gray arrows) in smooth muscle cells in vessel walls

Acid maltase deficiency: Glycogen deposits in CNS neurons

Cortex

Motor neurons

From L Gutmann

Acid Maltase Deficiency: 1 year-old Child, Post Treatment

H&E stain

Acid maltase deficiency, Post treatment

Storage material replaces cytoplasm in many muscle fibers
Cytoplasm is replaced by
- Storage: Mostly Purple; Few fibers with clear-stained material
- Compare to: Untreated patient
Some muscle fibers are enlarged

H&E stain

H&E stain

H&E stain

H&E stain

H&E stain

Gomori trichrome stain

Acid maltase deficiency, Post treatment

Storage material replaces cytoplasm in many muscle fibers
Cytoplasm is replaced by
- Storage: Mostly Purple; Few fibers with clear-stained material
- Compare to: Untreated patient

Gomori trichrome stain

Gomori trichrome stain

Congo Red stain

Acid maltase deficiency, Post treatment

Storage material replaces cytoplasm in many muscle fibers
Cytoplasm is replaced by
- Storage: Mostly Purple; Few fibers with clear-stained material
- Compare to: Untreated patient