title: A case of alkaptonuria - ultrasonographic findings.
abstract: Alkaptonuria is a rare disease with autosomal recessive inheritance and variable expression. The weight-bearing joint involvement and spondylitis-like vertebral changes occur only after the 3rd decade. Musculoskeletal ultrasonographic findings in alkaptonuria were only rarely described, consisting mainly into enthesopathy and non-synovial tendon degeneration. We present the case of a 50 years old man with alkaptonuria and discuss the ultrasonographic findings and the relationship of the disease with chondrocalcinosis. The tendinous and synovial aspect may be peculiar and it could therefore allow recognition and screening for alkaptonuria, along with clinical and radiologic data.
authors.affiliation: Rheumatology Department, Emergency Clinical County Hospital, Cluj-Napoca, Romania; Email: lauradamiancj@yahoo.com.
authors.forename: Laura Otilia
authors.initials: LO
authors.lastname: Damian
authors.forename: Ioana
authors.initials: I
authors.lastname: Felea
authors.forename: Călin
authors.initials: C
authors.lastname: Boloşiu
authors.forename: Carolina
authors.initials: C
authors.lastname: Botar-Jid
authors.forename: Daniela
authors.initials: D
authors.lastname: Fodor
authors.forename: Simona
authors.initials: S
authors.lastname: Rednic
mesh_terms: D000474:Alkaptonuria / Q000150:complications* / Q000000981:diagnostic imaging*; D001168:Arthritis / Q000000981:diagnostic imaging* / Q000209:etiology*; D002805:Chondrocalcinosis / Q000150:complications* / Q000000981:diagnostic imaging*; D003937:Diagnosis, Differential; D006801:Humans; D007719:Knee Joint / Q000000981:diagnostic imaging; D008297:Male; D008875:Middle Aged; D014463:Ultrasonography / Q000379:methods*