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Legg-Perthes disease-like joint involvement and diagnosis delay in Scheie syndrome: a case report

Meltem Alkan Melikoglu1, Hilal Kocabas, Ilhan Sezer

  • 1Department of Physical Medicine and Rehabilitation, School of Medicine, Akdeniz University, Antalya, Turkey. mamelikoglu@gmail.com

Clinical Rheumatology
|February 1, 2007
PubMed

Insights

Mucopolysaccharidosis (MPS) type I, specifically the mild Scheie syndrome (MPS I S), can present with only musculoskeletal issues, delaying diagnosis. Increased physician awareness is crucial for early identification and intervention in these subtle cases.

Area of Science:

  • Genetics and rare diseases
  • Lysosomal storage disorders

Background:

  • Mucopolysaccharidosis (MPS) type I is a group of inherited lysosomal storage disorders.
  • Scheie syndrome (MPS I S) represents the mildest subtype of MPS I.

Observation:

  • Musculoskeletal involvement can be the sole presenting sign in mild MPS I phenotypes.
  • Attenuated Scheie syndrome presentations are often challenging for physicians to recognize.
  • Delayed diagnosis is common due to the subtle and non-specific initial symptoms.

Findings:

  • This case presentation highlights the diagnostic challenges associated with mild MPS I S.
  • Emphasizes that musculoskeletal symptoms may be the primary or only indicator.

Implications:

  • Increased awareness among healthcare providers is essential for timely diagnosis of MPS I S.
  • Early diagnosis facilitates prompt intervention, potentially improving patient outcomes.
  • Recognizing subtle musculoskeletal signs can prevent diagnostic delays in rare genetic disorders.

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