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[Pathomorphology of mucopolysaccharidoses].

Authors
  • Warzok, R
  • Wattig, B
  • Seidlitz, G
Type
Published Article
Journal
Zentralblatt für allgemeine Pathologie u. pathologische Anatomie
Publication Date
Jan 01, 1990
Volume
136
Issue
1-2
Pages
43–57
Identifiers
PMID: 2109439
Source
Medline
License
Unknown

Abstract

Mucopolysaccharidoses are autosomal recessive or X-linked hereditary lysosomal storage diseases occurring to one in 10,000 to 16,000 births. The definitive diagnosis is based on the biochemical verification of the enzyme defect in cultured fibroblasts of amniotic fluid cells, in amniotic fluid, in chorionic biopsies and by determination of the urinary excretion of glycosaminoglycans. Morphological studies are of utmost importance both for genetic counselling and enlightenment of the pathogenesis. In recent years, numerous reports appeared dealing with morphological changes in different types of mucopolysaccharidoses. Based on own studies in pre- and postnatal cases, the present paper gives an update review on light and electron microscopic peculiarities of the different types and subtypes of mucopolysaccharidoses according to the classification of MCKUSICK and NEUFELD (1983). Lysosomal storage is found in practically all organs. However, there are quantitative and qualitative differences which are responsible for variations in clinical symptomatology. The purpose of this paper is to describe these differences with particular emphasis on changes in various tissues, on the pathogenetic mechanism of the storage as well as on pre- and postnatal morphological diagnostics.

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