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 inflamm...
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| Format: | Article |
| Language: | English |
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BMC
2021-10-01
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| Series: | BMC Rheumatology |
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| Online Access: | https://doi.org/10.1186/s41927-021-00208-0 |
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| author | F. Verkuil A. M. Bosch P. A. A. Struijs R. Hemke J. M. van den Berg |
| author_facet | F. Verkuil A. M. Bosch P. A. A. Struijs R. Hemke J. M. van den Berg |
| author_sort | F. Verkuil |
| collection | DOAJ |
| description | 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 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. |
| first_indexed | 2024-12-24T03:13:14Z |
| format | Article |
| id | doaj.art-a8f5a85c96ae416094c0322363c08520 |
| institution | Directory Open Access Journal |
| issn | 2520-1026 |
| language | English |
| last_indexed | 2024-12-24T03:13:14Z |
| publishDate | 2021-10-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Rheumatology |
| spelling | doaj.art-a8f5a85c96ae416094c0322363c085202022-12-21T17:17:43ZengBMCBMC Rheumatology2520-10262021-10-01511710.1186/s41927-021-00208-0Inflammatory arthritis complicating galactosialidosis: a case reportF. Verkuil0A. M. Bosch1P. A. A. Struijs2R. Hemke3J. M. van den Berg4Emma Children’s Hospital, Amsterdam University Medical Centers, location Academic Medical Center, Pediatric Immunology, Rheumatology and Infectious Diseases, University of AmsterdamEmma Children’s Hospital, Amsterdam University Medical Centers, location Academic Medical Center, Pediatric Metabolic Diseases, University of AmsterdamOrthopedic Surgery, Amsterdam University Medical Centers, location Academic Medical Center, University of AmsterdamRadiology and Nuclear Medicine, Amsterdam University Medical Centers, location Academic Medical Center, Amsterdam Movement Sciences, University of AmsterdamEmma Children’s Hospital, Amsterdam University Medical Centers, location Academic Medical Center, Pediatric Immunology, Rheumatology and Infectious Diseases, University of AmsterdamAbstract 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.https://doi.org/10.1186/s41927-021-00208-0Lysosomal storage disorderGalactosialidosisInherited metabolic disorderInflammatory arthritisJoint inflammationSynovitis |
| spellingShingle | F. Verkuil A. M. Bosch P. A. A. Struijs R. Hemke J. M. van den Berg Inflammatory arthritis complicating galactosialidosis: a case report BMC Rheumatology Lysosomal storage disorder Galactosialidosis Inherited metabolic disorder Inflammatory arthritis Joint inflammation Synovitis |
| title | Inflammatory arthritis complicating galactosialidosis: a case report |
| title_full | Inflammatory arthritis complicating galactosialidosis: a case report |
| title_fullStr | Inflammatory arthritis complicating galactosialidosis: a case report |
| title_full_unstemmed | Inflammatory arthritis complicating galactosialidosis: a case report |
| title_short | Inflammatory arthritis complicating galactosialidosis: a case report |
| title_sort | inflammatory arthritis complicating galactosialidosis a case report |
| topic | Lysosomal storage disorder Galactosialidosis Inherited metabolic disorder Inflammatory arthritis Joint inflammation Synovitis |
| url | https://doi.org/10.1186/s41927-021-00208-0 |
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