Ochronotic hip arthropathy - A case report

Ochronotic arthropathy is a rapidly progressive sequelae of alkaptonuria. This is a rare autosomal recessive condition caused by a mutation in the homogentisate 1,2 dioxygenase (HGD) gene leading to HGD enzyme deficiency. Here, we report a case of neck femur fracture in a patient with ochronotic art...

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Bibliographic Details
Published inJournal of orthopaedic case reports Vol. 12; no. 10; pp. 14 - 17
Main Authors Jirel, Abhishek, Paul, Nirvin, Kaganur, Raghavendra, Gopurathingal, Anto, George, Joseph
Format Journal Article
LanguageEnglish
Published India Indian Orthopaedic Research Group 01.10.2022
Subjects
Case Report
ochronosis
blackening of urine
alkaptonuria
Ochronotic arthropathy
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Summary:Ochronotic arthropathy is a rapidly progressive sequelae of alkaptonuria. This is a rare autosomal recessive condition caused by a mutation in the homogentisate 1,2 dioxygenase (HGD) gene leading to HGD enzyme deficiency. Here, we report a case of neck femur fracture in a patient with ochronotic arthropathy managed by primary hip arthroplasty. A 62-year-old gentleman presented with complaints of pain in his left groin area and difficulty in weight bearing on his left lower limb for 3 weeks. The pain was sudden in onset and started while he was on his morning walk. He did not have any problems with his left hip before this episode and he did not give a history of any significant trauma. History, radiological, and intraoperative findings revealed ochronotic hip arthropathy. Ochronotic arthropathy is relatively rare and is seen in isolated communities. The treatment options are similar to primary osteoarthritis and the outcome is comparable to arthroplasty done for osteoarthritis.
ISSN:2250-0685
2321-3817
DOI:10.13107/jocr.2022.v12.i10.3346