Mucolipidosis: A mimicker of juvenile idiopathic arthritis.
arthropathy
juvenile idiopathic arthritis
mimicker
non-inflammatory
Journal
International journal of rheumatic diseases
ISSN: 1756-185X
Titre abrégé: Int J Rheum Dis
Pays: England
ID NLM: 101474930
Informations de publication
Date de publication:
Jul 2023
Jul 2023
Historique:
revised:
31
12
2022
received:
19
07
2022
accepted:
03
02
2023
medline:
4
7
2023
pubmed:
5
3
2023
entrez:
4
3
2023
Statut:
ppublish
Résumé
Juvenile idiopathic arthritis is the most common form of chronic arthritis in children and at times misdiagnosed in those presenting with arthropathy secondary to non-inflammatory causes. The overlap of symptoms often pose a diagnostic challenge for clinicians. This mostly results in a delayed diagnosis subjecting children to unnecessary use of long-term immunosuppressants and disease-modifying drugs. We present the case of a 9-year-old boy who was previously misdiagnosed as a case of juvenile idiopathic arthritis. Detailed evaluation later led to the diagnosis of mucolipidosis (type III) which was confirmed on genetic testing. Emphasis on detailed history and clinical examination including the subtle hints like lack of signs of inflammation, family history, no morning stiffness and normal inflammatory markers should be picked up to make a timely diagnosis. In today's era of genetic testing and diagnosis, it is prudent to offer these tests for such patients to make an accurate diagnosis and prognosticate them for the long-term outcome.
Identifiants
pubmed: 36869440
doi: 10.1111/1756-185X.14620
doi:
Substances chimiques
Immunosuppressive Agents
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
1363-1367Informations de copyright
© 2023 Asia Pacific League of Associations for Rheumatology and John Wiley & Sons Australia, Ltd.
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