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

Nesrin Mwafi
Nesrin Mwafi
, 
Ali Alasmar
Ali Alasmar
, 
Monther Al-Momani
Monther Al-Momani
, 
Sattam Alazaydeh
Sattam Alazaydeh
, 
Omar Alajoulin
Omar Alajoulin
, 
Mohammad Alsalem
Mohammad Alsalem
 et 
Heba Kalbouneh
Heba Kalbouneh
   | 30 juin 2021
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Article Category: Clinical report
Publié en ligne: 30 juin 2021
Pages: 129 - 136
DOI: https://doi.org/10.2478/abm-2021-0016
Mots clés
© 2021 Nesrin Mwafi et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

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.
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