Mucolipidosis type III α/β: The first characterization of this rare disease by autopsy

Darcy Kerr, Vincent A. Memoli, Sara S. Cathey, Brent T. Harris

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

We report findings from an autopsy of a 45-year-old woman with the rare lysosomal storage disease mucolipidosis type III α/β. Her disease manifested most notably as multiple bone and cartilage problems with tracheal and bronchial malacia. Principal autopsy findings included gross abnormalities in bone and cartilage with corresponding microscopic cytoplasmic lysosomal granules. These cytoplasmic granules were also seen in histologic preparations of the brain, myocardium, heart valves, and fibroblasts of the liver and skin by light and electron microscopy. By electron microscopy there were scattered, diffuse vesicular cytoplasmic granules in neurons and glia and an increase in lysosomal structures with fine electron lucent granularity in the above tissue types. Our findings help elaborate current understanding of this disease and differentiate it from the mucopolysaccharidoses and related disorders. To our knowledge, this is the first report to document pathologic findings in a patient with mucolipidosis type III α/β by autopsy.

Original languageEnglish (US)
Pages (from-to)503-510
Number of pages8
JournalArchives of Pathology and Laboratory Medicine
Volume135
Issue number4
StatePublished - Apr 2011
Externally publishedYes

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ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medical Laboratory Technology

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