Ultrastructure of the skin in mucopolysaccharidoses. Studies performed before and after plasma infusion therapy

Abstract

Skin biopsy specimens of two siblings with Hunter syndrome and two siblings with type B Sanfilippo syndrome were examined by electron microscopy, at six-month intervals, before and after plasma infusion therapy. Electron-lucent, membrane-bound vacuoles were seen in fibroblasts, Schwann cells, and in mononuclear cells both before and after the infusions. Based on the ultrastructural, clinical, and biochemical findings, it was concluded that there was no therapeutic benefit from these plasma infusions.