Fig. 4.

Muscle histopathology (H&E stain) in Patient 1 at the time of diagnosis (A) and 1 year after ERT (B).

A: Scattered muscle fibers have the intracytoplasmic vacuoles of approximately 30 μm in diameter which are filled with basophilic amorphous materials. In addition, tiny intracytoplasmic vacuoles are seen in most fibers.

B: Intracytoplasmic vacuoles with basophilic materials are much more prominent than A with the size of > 50 μm in diameter. Adipose tissue infiltration is also seen in part.