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

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

Asian Biomedicine
Volume 15 (2021): Issue 3 (June 2021)
By: Nesrin Mwafi,  Ali Alasmar,  Monther Al-Momani,  Sattam Alazaydeh,  Omar Alajoulin,  Mohammad Alsalem and  Heba Kalbouneh  
Open Access
|Jun 2021

Figures & Tables

Figure 1

Clinical manifestations of alkaptonuria presented in the reported case. (A) Brownish discoloration of the eye sclera, (B) discoloration of the teeth, (C) bluish discoloration of the ear pinna. With documented consent for publication from the patient.
Clinical manifestations of alkaptonuria presented in the reported case. (A) Brownish discoloration of the eye sclera, (B) discoloration of the teeth, (C) bluish discoloration of the ear pinna. With documented consent for publication from the patient.

Figure 2

Sanger sequencing analysis of DNA from the patient with the case of alkaptonuria reported here. (A) Electropherogram of exon a6 HGD from a control (wild type) showing C at position 365. (B) Electropherogram of exon a6 HGD from the patient with alkaptonuria demonstrated a point mutation leading to replacement of C with T at position 365 (c.365C>T, p.Ala122Val). The black arrow refers to the position of the missense mutation. (C) Urine sample of control (wild type) did not show any change in color after 24 h. (D) Urine sample from the patient with alkaptonuria in which the color changed from yellow to dark brown or black upon standing for 24 h due to oxidation of HGA to benzoquinone acetic acid. HGD, homogentisate 1,2-dioxygenase; HGA, homogentisic acid.
Sanger sequencing analysis of DNA from the patient with the case of alkaptonuria reported here. (A) Electropherogram of exon a6 HGD from a control (wild type) showing C at position 365. (B) Electropherogram of exon a6 HGD from the patient with alkaptonuria demonstrated a point mutation leading to replacement of C with T at position 365 (c.365C>T, p.Ala122Val). The black arrow refers to the position of the missense mutation. (C) Urine sample of control (wild type) did not show any change in color after 24 h. (D) Urine sample from the patient with alkaptonuria in which the color changed from yellow to dark brown or black upon standing for 24 h due to oxidation of HGA to benzoquinone acetic acid. HGD, homogentisate 1,2-dioxygenase; HGA, homogentisic acid.

Figure 3

Computed tomographic sagittal (A) and coronal (B) reconstruction of the lumbosacral spine showing diffuse degenerative changes represented by disk space narrowing, subchondral cystic changes and erosions, multilevel endplate sclerosis, marginal sydesmophytosis, and the presence of gas in the degenerated disk spaces (vacuum phenomenon). In addition, evidence of disk calcification is noted in the upper disk space level.
Computed tomographic sagittal (A) and coronal (B) reconstruction of the lumbosacral spine showing diffuse degenerative changes represented by disk space narrowing, subchondral cystic changes and erosions, multilevel endplate sclerosis, marginal sydesmophytosis, and the presence of gas in the degenerated disk spaces (vacuum phenomenon). In addition, evidence of disk calcification is noted in the upper disk space level.

Figure 4

Sagittal fat saturated proton density-weighted (A) and sagittal T1-weighted (B) magnetic resonance images showing an insertional type of Achilles tendon rupture. There is discontinuity and retraction of the Achilles tendon. The tendinous insertion into the calcaneus tuberosity is completely disrupted.
Sagittal fat saturated proton density-weighted (A) and sagittal T1-weighted (B) magnetic resonance images showing an insertional type of Achilles tendon rupture. There is discontinuity and retraction of the Achilles tendon. The tendinous insertion into the calcaneus tuberosity is completely disrupted.

Figure 5

Surgical exploration showing: (A) complete left Achilles tendon rupture at its calcaneal attachment with dark-black pigmentation of the frayed ends, (B) the gap created after removal of the pigmented tissue, (C) the FHL tendon graft, (D) the FHL tendon graft after insertion in the calcaneal tuberosity, and (E) suturing of the proximal stump of the Achilles with the FHL tendon graft using a suture anchor. With documented consent for publication from the patient. FHL, flexor hallucis longus.
Surgical exploration showing: (A) complete left Achilles tendon rupture at its calcaneal attachment with dark-black pigmentation of the frayed ends, (B) the gap created after removal of the pigmented tissue, (C) the FHL tendon graft, (D) the FHL tendon graft after insertion in the calcaneal tuberosity, and (E) suturing of the proximal stump of the Achilles with the FHL tendon graft using a suture anchor. With documented consent for publication from the patient. FHL, flexor hallucis longus.

Figure 6

Intraoperative test showing (A) dorsiflexion and (B) plantarflexion of the ankle after repair. With documented consent for publication from the patient.
Intraoperative test showing (A) dorsiflexion and (B) plantarflexion of the ankle after repair. With documented consent for publication from the patient.
DOI: https://doi.org/10.2478/abm-2021-0016 | Journal eISSN: 1875-855X | Journal ISSN: 1905-7415
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Language: English
Page range: 129 - 136
Published on: Jun 30, 2021
Published by: Chulalongkorn University
In partnership with: Paradigm Publishing Services
Publication frequency: 6 issues per year
Keywords:
Achilles tendon,
alkaptonuria,
homogentisic acid,
ochronosis,
rupture
Related subjects:
Medicine,
Assistive professions, nursing,
Basic medical science,
Basic medical science, other,
Clinical medicine,
Clinical medicine, other

© 2021 Nesrin Mwafi, Ali Alasmar, Monther Al-Momani, Sattam Alazaydeh, Omar Alajoulin, Mohammad Alsalem, Heba Kalbouneh, published by Chulalongkorn University
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

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