 |
|
Pathologic Findings in Mucopolysaccharidosis Type IIIB (Sanfilippo's Syndrome B)
M. G. Hadfield, MD;
N. R. Ghatak, MD;
I. Nakoneczna, MD;
H. R. Lippman, MD;
E. C. Myer, MD;
G. Constantopoulos, PhD;
R. M. Bradley
Arch Neurol. 1980;37(10):645-650.
Abstract
• The pathologic changes in a rare case of mucopolysaccharidosis (MPS) type IIIB or Sanfilippo's syndrome B (absence of  -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.
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).
Footnotes
Accepted for publication July 31, 1979.
Read before the Eighth International Congress of Neuropathology, Washington, DC, Sept 28, 1978.
Reprint requests to Division of Neuropathology, Box 17, MCV Station, Richmond, VA 23298 (Dr Hadfield).
 CiteULike  Connotea  Delicious  Digg  Facebook  Reddit  Technorati  Twitter
What's this?
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
GM130 gain-of-function induces cell pathology in a model of lysosomal storage disease
Roy et al.
Hum Mol Genet 2011;0:ddr584v2-ddr584.
ABSTRACT
| FULL TEXT
Modeling neuronal defects associated with a lysosomal disorder using patient-derived induced pluripotent stem cells
Lemonnier et al.
Hum Mol Genet 2011;20:3653-3666.
ABSTRACT
| FULL TEXT
|
