Inflammatory arthritis complicating galactosialidosis: a case report.

ABSTRACT:

Background

Galactosialidosis (GS) is a rare inherited lysosomal storage disorder (LSD) which is characterized by a defect in the lysosomal glycoprotein catabolism. We report, for the first time, the case of a child affected by GS presenting with recurrent episodes of extensive joint inflammation in both knee joints. The aim of this case-report is to describe the clinical presentation as well as the laboratory, radiologic and microscopic features of this unique presentation of GS. Furthermore, we explore inflammatory mechanisms potentially responsible for the origination of the arthritic joint pathology observed in our patient.

Case presentation

We describe the rare case of a 12-year-old boy diagnosed with GS (late infantile form) who presented with multiple episodes of infla

SUBMITTER: Verkuil F 

PROVIDER: S-EPMC8504000 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature