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October 1980

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

Author Affiliations

From the Departments of Pathology and Neurology (Drs Hadfield, Ghatak, Nakoneczna, Lippman, and Myer), Medical College of Virginia/ Virginia Commonwealth University, Richmond, and the Developmental and Metabolic Neurology Branch, National Institute of Neurological and Communicative Disorders and Stroke, National Institutes of Health, Bethesda, Md (Dr Constantopoulos and Mr Bradley).

Arch Neurol. 1980;37(10):645-650. 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.

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