Inflammatory arthritis complicating galactosialidosis: a case report

Area of Science:

• Genetics and Molecular Biology
• Rheumatology
• Pediatrics

Background:

• Galactosialidosis (GS) is a rare lysosomal storage disorder (LSD) affecting glycoprotein catabolism.
• This report details a unique case of GS presenting with recurrent, extensive joint inflammation in a child.

Purpose of the Study:

• To describe the clinical, laboratory, radiologic, and microscopic features of this unusual GS presentation.
• To explore inflammatory mechanisms potentially underlying the observed arthritic joint pathology.

Main Methods:

• Case report of a 12-year-old boy diagnosed with late infantile form of GS.
• Evaluated clinical presentation, laboratory results, synovial fluid analysis, and synovial tissue biopsy.
• Ruled out autoimmune disorders, infections, malignancy, and crystal-induced arthritis.

Main Results:

• Patient presented with recurrent inflammatory arthritis primarily affecting both knees.
• Synovial tissue showed foamy macrophages with vacuolization, consistent with GS.
• Intra-articular corticosteroid injection provided transient symptom relief.

Conclusions:

• GS itself is hypothesized to be the primary cause of the relapsing inflammatory joint pathology.
• Accumulation of GS storage products may trigger local and systemic inflammatory processes.
• Further research is needed to confirm an arthritic phenotype in GS and elucidate pathophysiology.