Pathologic Findings in Mucopolysaccharidosis Type IIIB (Sanfilippo's Syndrome B)

• Published in: Archives of neurology (Chicago) Vol. 37; no. 10; pp. 645 - 650
• Main Authors: Hadfield, M. G, Ghatak, N. R, Nakoneczna, I, Lippman, H. R, Myer, E. C, Constantopoulos, G, Bradley, R. M
• Format: Journal Article
• Language: English
• Published: United States American Medical Association 01.10.1980
• Subjects: Adolescent; Brain - pathology; Brain - ultrastructure; Brain Chemistry; Cerebral Cortex - pathology; Cerebral Cortex - ultrastructure; Cerebrosides - analysis; Electrophoresis; Female; G(M1) Ganglioside - analysis; G(M2) Ganglioside - analysis; Glycosaminoglycans - analysis; Glycosphingolipids - analysis; Humans; Mucopolysaccharidoses - pathology; Mucopolysaccharidosis III - metabolism; Mucopolysaccharidosis III - pathology
• ISSN: 0003-9942; 1538-3687
• DOI: 10.1001/archneur.1980.00500590069012

• The pathologic changes in a rare case of mucopolysaccharidosis (MPS) type IIIB or Sanfilippo's syndrome B (absence of α-N-acetylglucosaminidase) are presented, along with the biochemical findings. Comparisons were made with other reported cases of MPS III subtypes and related storage disorders in terms of clinical, light microscopic, electron microscopic, and chemical findings, and a correlation of the ultrastructural changes made with the severe neurological dysfunction noted in this disorder. At present, MPS III subtypes cannot be separated from one another by morphological means because the same expression and distribution of lesions may be encountered among differing subtypes.