Alkaptonuria with extensive ochronotic degeneration of the Achilles tendon and its surgical treatment: a case report and literature review

Author:

Mwafi Nesrin1ORCID,Alasmar Ali2ORCID,Al-Momani Monther3ORCID,Alazaydeh Sattam4ORCID,Alajoulin Omar4ORCID,Alsalem Mohammad5ORCID,Kalbouneh Heba5ORCID

Affiliation:

1. Department of Biochemistry and Molecular Biology, Faculty of Medicine , Mutah University , Alkarak , Jordan

2. Department of Urology, Prince Hussein Urology Center, Jordanian Royal Medical Services , Amman , Jordan

3. Department of Radiology, Jordanian Royal Medical Services , Amman , Jordan

4. Department of Orthopedics and Trauma, Jordanian Royal Medical Services , Amman , Jordan

5. Department of Anatomy and Histology, School of Medicine , The University of Jordan , Amman , Jordan

Abstract

Abstract Background Alkaptonuria is a rare genetic metabolic disorder due to deficiency of homogentisate 1,2-dioxygenase (HGD), an enzyme catalyzing the conversion of homogentisate to 4-maleylacetoacetate in the pathway for the catabolism of phenylalanine and tyrosine. HGD deficiency results in accumulation of homogentisic acid and its pigmented polymer. Ochronosis is a bluish-black discoloration due to the deposition of the polymer in collagenous tissues. Extensive ochronotic involvement of the Achilles tendon in alkaptonuria and its surgical treatment is rarely reported. Case report A 43-year-old man presented to our clinic in March 2019 with sudden onset of left Achilles tendon pain with no history of prior trauma. Surgical exploration revealed a complete disruption of the tendon at its attachment to the calcaneus. Black pigmentation was extensive and reached the calcaneal tuberosity, extending about 7 cm from the insertion. Discussion Achilles reconstruction was performed using flexor hallucis longus tendon transfer. The patient experienced uncomplicated healing with satisfactory functional results. Conclusion Orthopedic surgeons should be aware of the progressive nature of alkaptonuria. Extensive degenerative changes of the ruptured tendon should be suspected so that physicians can plan tendon repair and facilitate prompt surgical intervention.

Publisher

Walter de Gruyter GmbH

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