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

Melikoglu M., KOCABAS H., SEZER I., CAY H. F., CASSIDY A. G., BALCI N.

CLINICAL RHEUMATOLOGY, cilt.26, sa.11, ss.1937-1939, 2007 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 26 Sayı: 11
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1007/s10067-007-0549-6
  • Dergi Adı: CLINICAL RHEUMATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1937-1939
  • Atatürk Üniversitesi Adresli: Hayır

Özet

Mucopolysaccharidosis (MPS) type I is an inherited disease caused by the absence or malfunctioning of lysosomal enzymes. Three subtypes, based on severity of symptoms, were described, and Scheie syndrome (also called MPS I S) is the mildest form. Although there may be some typical extra-articular manifestations, musculoskeletal involvement may be the only presenting sign in the absence of other symptoms in the patients with less severe forms. The patients with MPS I S, especially in attenuated phenotypes, may be sometimes difficult to recognize for physicians not familiar with the disease. With this case presentation, it is aimed to draw attention to this disease, which could be delayed for the correct diagnosis. An increased awareness of the disease may contribute to more accurate diagnosis, and patients may benefit from early intervention.