Muscle pathology and peripheral blood smear of NLSDM. a Muscle biopsy showing massive vacuoles of various size within myofibers, including some rimmed vacuoles under hematoxylin & eosin staining. b Oil red O staining revealed accumulations of a large number of lipid droplets within myofibers. c Modified Gomori trichrome staining confirmed rimmed vacuoles. d Peripheral blood smear revealed Jordan’s anomaly under Wright’s stain. Scale bar = 50 μm (a-c); Scale bar =20 μm (d).