Amylopectinosis in fetal and neonatal quarter horses

Three Quarter Horses, a stillborn filly (horse No. i), a female fetus abort ed at approximately 6 months of gestation (horse No. 2), and a 1-month-old colt that had been weak at birth (horse No. 3), had myopathy characterized histologically by large spherical or ovoid inclusions in skeletal and cardi ac myofibers. Smaller inclusions were also found in brain and spinal cord a nd in some cells of all other tissues examined. These inclusions were basop hilic, red-purple after staining with periodic acid-Schiff (both before and after digestion with diastase), and moderately dark blue after staining wi th toluidine blue. The inclusions did not react when stained with Congo red . Staining with iodine ranged from pale blue to black. Their ultrastructura l appearance varied from amorphous to somewhat filamentous. On the basis of staining characteristics and diastase resistance, we concluded that these inclusions contained amylopectin. A distinctly different kind of inclusion material was also present in skeletal muscle and tongue of horse Nos. 1 and 3. These inclusions were crystalline with a sharply defined ultrastructura l periodicity. The crystals were eosinophilic and very dark blue when stain ed with toluidine blue but did not stain with iodine. Crystals sometimes oc curred freely within the myofibers but more often were encased by deposits of amylopectin. This combination of histologic and ultrastructural features characterizes a previously unreported storage disease in fetal and neonata l Quarter Horses, with findings similar to those of glycogen storage diseas e type IV. We speculate that a severe inherited loss of glycogen brancher e nzyme activity may be responsible for these findings. The relation of amylo pectinosis to the death of the foals is unknown.