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

AUTOR(ES)

Urbanski, Geoffrey

FONTE

J. inborn errors metab. screen.

DATA DE PUBLICAÇÃO

15/07/2019

RESUMO

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.

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