Inflammatory arthritis complicating galactosialidosis: a case report.

Autor: Verkuil F; Emma Children's Hospital, Amsterdam University Medical Centers, location Academic Medical Center, Pediatric Immunology, Rheumatology and Infectious Diseases, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands. f.verkuil@amsterdamumc.nl.; Radiology and Nuclear Medicine, Amsterdam University Medical Centers, location Academic Medical Center, Amsterdam Movement Sciences, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands. f.verkuil@amsterdamumc.nl., Bosch AM; Emma Children's Hospital, Amsterdam University Medical Centers, location Academic Medical Center, Pediatric Metabolic Diseases, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands., Struijs PAA; Orthopedic Surgery, Amsterdam University Medical Centers, location Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands., Hemke R; Radiology and Nuclear Medicine, Amsterdam University Medical Centers, location Academic Medical Center, Amsterdam Movement Sciences, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands., van den Berg JM; Emma Children's Hospital, Amsterdam University Medical Centers, location Academic Medical Center, Pediatric Immunology, Rheumatology and Infectious Diseases, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands.
Jazyk: angličtina
Zdroj: BMC rheumatology [BMC Rheumatol] 2021 Oct 11; Vol. 5 (1), pp. 41. Date of Electronic Publication: 2021 Oct 11.
DOI: 10.1186/s41927-021-00208-0
Abstrakt: 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 inflammatory arthritis involving both knees; no other joints were suspected for joint inflammation. Laboratory results did not indicate an autoimmune disorder. Synovial fluid tested negative for any bacterial infection and ruled out a malignancy and crystal-induced arthritis. Microscopic examination of the synovial tissue revealed numerous foamy macrophages with extensive vacuolization, consistent with the previous diagnosis of GS. Treatment consisted of aspiration of excessive joint fluid and subsequent intra-articular injection of triamcinolonhexacetonide with excellent but transient result. Given the evidence of storage products within macrophages of the inflamed synovial tissue and the absence of other etiological clues, GS itself was considered as the primary cause for the relapsing inflammatory joint pathology. According to the restricted data on articular manifestations in GS, to date, GS cannot be linked directly to joint inflammation. Nevertheless, in several other LSDs, the accumulation of storage material has been associated with numerous osteoimmunological changes that might play a role in the pathophysiology of arthritic processes.
Conclusions: We hypothesize that the articular build-up of GS storage products triggered systemic as well as local inflammatory processes, resulting in the extensive inflammatory joint pathology as observed in our patient. Future identification of other patients with GS is required to corroborate the existence of an arthritic clinical phenotype of GS and to assess the underlying pathophysiology.
(© 2021. The Author(s).)
Databáze: MEDLINE
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