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Case Reports
. 2017 Aug;8(Suppl 1):S80-S83.
doi: 10.1016/j.jcot.2016.11.009. Epub 2017 Jan 5.

Arthroscopic diagnosis and treatment of shoulder ochronotic arthropathy - A case report

Prateek Kumar Gupta  1 , Ashis Acharya  1 , Dhananjay Sabat  2 , Amit Mourya  1
Affiliations
Case Reports

Arthroscopic diagnosis and treatment of shoulder ochronotic arthropathy - A case report

Prateek Kumar Gupta et al. J Clin Orthop Trauma. 2017 Aug.

Abstract

Alkaptonuria is a rare inherited metabolic disorder, caused by the deficiency of homogentisate 1,2 dioxygenase enzyme. The three major features of alkaptonuria are the presence of homogentisic acid in urine, ochronosis (bluish-black pigmentation in connective tissue) and arthritis of the spine and large joints. We present a 48 years old female presented with pain, restriction of movements of right shoulder. Arthroscopy was suggestive of ochronotic arthropathy. The definitive diagnosis of ochronosis was subsequently confirmed by laboratory and pathologic evaluation.

Keywords: Alkaptonuria; Arthroscopy; Ochronosis; Shoulder.

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Figures

Fig. 1
Fig. 1
Radiograph of right shoulder showing superior migration, decreased joint space and degenerative changes in the humeral head.
Fig. 2
Fig. 2
MRI of the right shoulder demonstrated joint effusion, synovial thickening, articular erosion and flattening of the humeral head possibly because of chronic inflammatory/infective process with degenerative changes.
Fig. 3
Fig. 3
(A) Arthroscopic view of the right shoulder showing erosion of glenoid and head. (B) Arthroscopic view of the right shoulder showing pigment behind anterior and superior labrum. (C) Arthroscopic view of the right shoulder showing pigment over posterior superior part of head. (D) Arthroscopic view of the right shoulder showing pigmentation of anterior capsule and labrum.
Fig. 4
Fig. 4
Auricular cartilage showing bluish discoloration.
Fig. 5
Fig. 5
Radiograph of dorsal and lumbar spine showing narrowed disc spaces with wafer like horizontal bands of calcification of each space.
Fig. 6
Fig. 6
Radiograph of knee joint showing diminishing of joint spaces.
Fig. 7
Fig. 7
(A) and (B) Histopathology of synovial tissue showing nonspecific inflammation with focal coarse pigmentation.
See this image and copyright information in PMC

References

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