A Case of Type I Sialidosis With Osteonecrosis Revealing a New Mutation in NEU1

ABSTRACT

Abstract Sialidosis is a rare lysosomal storage disease. The 2 forms described are as follows the early-onset form, or type II, presents with dysostosis multiplex, while the late-onset form, or type I, does not involve bone in the literature. We report the case of a 42-year-old woman with type I sialidosis who presents with osteonecrosis of both humeral and femoral heads. Molecular study reveals a never listed mutation of NEU1 in exon 5, p.Gly273Asp (c.818G>A), and a second known missense mutation.