Patients with mucopolysaccharidoses (MPS) have a plethora of multisystemic manifestations depending on the particular type, and atypical presentations are not uncommon. MPS type IVA (Morquio A syndrome) has predominant musculoskeletal system involvement and corneal clouding with normal intelligence and can be misdiagnosed as primary skeletal disorders in clinical practice. The absence of corneal clouding with normal urinary glycosaminoglycans (GAGs) level in a proportion of patients with MPS IVA makes the correct diagnosis even more challenging for physicians. Healthcare providers across specialties should have a high degree of suspicion for MPS IVA in all patients with suspected spondylo-epiphyseal dysplasia as early diagnosis and early treatment significantly improve the clinical outcome and activity of daily living.
- metabolic disorders
- general practice / family medicine
- rehabilitation medicine
- musculoskeletal syndromes
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Contributors SNB: diagnosis and patient management. SP and PPC: diagnosis, literature search and preparing the manuscript. HB: patient management.
Competing interests None declared.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.
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