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Mucopolysaccharidosis Type I in Children, a Forgotten Diagnosis Responsible for Undiagnosed Musculoskeletal Complaints: Report of Two Cases

Authors :
Soheila Hoseinzadeh Moghadam
Masood Ghahvechi
Fatemeh Mozafari
Fatemeh Sayarifard
Mahdieh-Sadat Mousavi
Reza Rostami
Vahid Ziaee
Source :
Acta Medica, Vol 62, Iss 4, Pp 161-165 (2020)
Publication Year :
2020
Publisher :
Karolinum Press, 2020.

Abstract

Mucopolysaccharidoses (MPS) are a subgroup of lysosomal storage disorders. The underlying mechanism of MPS disorders are deficiency in specific enzymes which leads to accumulation of partially degraded glycosaminoglycans (GAGs) in various tissues. A wide variety of manifestations are reported but musculoskeletal complaints are common among them. In milder forms of MPS, musculoskeletal complaints are presenting symptoms. Delays in diagnosis due to unspecific and mild symptoms is common. Misdiagnosis of MPS as juvenile idiopathic arthritis and other inflammatory arthritis disorders is frequent. Early diagnosis and treatment prevents irreversible cellular damages and is a key factor in efficacy of enzyme replacement therapy. In this study we described two MPS patients with musculoskeletal complaints who were not diagnosed for a period of time. Although musculoskeletal manifestation are common in a variety of clinical conditions, their presence at low ages or co-occurrence of other manifestations (such as cardiac, respiratory, neurologic, etc.) in multiple systems should prompt evaluation of patients for MPS and other metabolic disorders. The rheumatologists’ awareness on MPS should be promoted to achieve timely diagnosis and subsequent early treatment.

Details

Language :
English
ISSN :
12114286 and 18059694
Volume :
62
Issue :
4
Database :
Directory of Open Access Journals
Journal :
Acta Medica
Publication Type :
Academic Journal
Accession number :
edsdoj.b96520769dd24b62848a7304563e7880
Document Type :
article
Full Text :
https://doi.org/10.14712/18059694.2020.6