Two cases of mucopolysaccharidosis type III (Sanfilippo). An anatomopathological study.
Anatomopathological studies of one case of Sanfilippo disease types A and C, respectively, are presented. The storage phenomenon is very severe in the central as well as in the peripheral nervous system of both patients. Light microscopy does not show significant differences between the two cases. Electron microscopy of the nervous system reveals in both cases the presence of variable amounts of zebra bodies and of membrano-granulo-vacuolar inclusions. The presence of larger amounts of zebra bodies in the type A case and of larger quantities of membrano-granulo-vacuolar inclusions in the type C case constitute probably a nondistinctive feature between the two types. Light and electron microscopic studies of visceral organs do not disclose significant differences either. It is concluded that no major morphological differences between Sanfilippo disease types A and C can be observed.
D000293:Adolescent; D002540:Cerebral Cortex / Q000648:ultrastructure; D002648:Child; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D009083:Mucopolysaccharidoses / Q000473:pathology*; D009084:Mucopolysaccharidosis III / Q000473:pathology*; D009474:Neurons / Q000648:ultrastructure; D010525:Peripheral Nerves / Q000648:ultrastructure