A case of galactosialidosis.

Abstract

Galactosialidosis is a lysosomal storage disease associated with a combined deficiency of beta-galactosidase and neuraminidase, caused by a defect of another lysosomal protein, the protective protein. Three subtypes are recognized: the early infantile form, the late infantile form and the juvenile/adult form. We saw a patient with galactosialidosis of the juvenile/adult form, a 51-year-old Japanese man with angiokeratomas on both elbows and knees, myoclonus, ataxia, mental retardation and macular cherry-red spots. An electron-microscopic study of a skin biopsy showed membrane-limited vacuoles in the cytoplasm of the endothelial cells, pericytes and fibroblasts. Assays of enzymatic activity in cultured fibroblasts showed a marked decrease in both beta-galactosidase and neuraminidase (sialidase). The substance contained in the cytoplasmic vacuoles appears to be glycoproteins with sialic acid, which is a terminal glycosyl residue, because the cytoplasm of the endothelial cells of the vessels and pericytes are stained by the Limax flavus agglutinin, a lectin that binds specifically with sialic acid. This technology may be useful for easy investigation of the distribution of the accumulation of such substances in the central nervous system.

• Authors: Y Nobeyama, M Honda, M Niimura
• Journal: The British journal of dermatology (Br J Dermatol) Vol. 149 Issue 2 Pg. 405-9 (Aug 2003) ISSN: 0007-0963 [Print] England
• PMID: 12932252 (Publication Type: Case Reports, Journal Article)

Chemical References

• Neuraminidase
• beta-Galactosidase

Topics

• Angiokeratoma (pathology)
• Humans
• Lysosomal Storage Diseases (pathology)
• Male
• Middle Aged
• Neuraminidase (deficiency)
• Skin (ultrastructure)
• Skin Neoplasms (pathology)
• beta-Galactosidase (deficiency)