Neuromuscular

ACID MALTASE DEFICIENCY: INFANT & EARLY CHILDHOOD ONSET

Adult pathology
Child pathology
  1 year
  1 month

Acid Maltase Deficiency: 1 year-old Child


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

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 month-old Child


&E stain
Storage material: Marked increase in muscle fiber cytoplasm

H&E stain

&E stain
Storage material: Marked increase in muscle fiber cytoplasm

&E stain

VvG stain

NADH stain
Sarcoplasmic membranes (NADH-stained): Displaced by storage material

PAS stain
Glycogen storage in Mucle Fiber Cytoplasm: Markedly increased PAS staining

PAS stain
Acid maltase deficiency: Neonatal

H&E stain
Artery Structure: Normal Cells & Fibrils in wall

VvG stain

PAS stain
Glycogen storage: Increased PAS stain in smooth muscle layer of artery
Normal artery: PAS stain

PAS stain
Also see
  Acid maltase deficiency: Later onset
  Phosphorylase deficiency
Return to Glycogen disorders
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8/25/2021