ACTA MEDICA

ACTA MEDICA
Acta Medica (Hradec Králové) is an English language multidisciplinary medical journal. Acta Medica publishes reviews, original articles, brief communications, case reports, announcements, and notices. The journal was founded in 1958 under the title “A Collection of Scientific Works of the Charles University’s Faculty of Medicine in Hradec Králové”. The journal is indexed in Chemical Abstracts, CNKI, DOAJ, EBSCO, Hinari, Index Medicus, MEDLINE, Scopus, and Ulrichsweb.

ACTA MEDICA, Vol 62 No 4 (2019), 161–165

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

Soheila Hoseinzadeh Moghadam, Masood Ghahvechi, Fatemeh Mozafari, Fatemeh Sayarifard, Mahdieh-Sadat Mousavi, Reza Rostami, Vahid Ziaee

DOI: https://doi.org/10.14712/18059694.2020.6
announced: 10. 02. 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.

keywords: mucopolysaccharidoses; glycosaminoglycan; hand drop; juvenile idiopathic arthritis; pediatric rheumatology

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Mucopolysaccharidosis Type I in Children, a Forgotten Diagnosis Responsible for Undiagnosed Musculoskeletal Complaints: Report of Two Cases is licensed under a Creative Commons Attribution 4.0 International License.

210 x 297 mm
published: 4 x per year
print price: 150 czk
ISSN: 1211-4286
E-ISSN: 1805-9694

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