Anterior cruciate ligament rupture in a patient with Albers-Schonberg disease.
BMC Musculoskelet Disord
; 23(1): 719, 2022 Jul 28.
Article
em En
| MEDLINE
| ID: mdl-35902893
ABSTRACT
BACKGROUND:
Osteopetrosis is an uncommon inherited disease marked with elevated bone density and frequent bone fractures owing to flawed osteoclast activity. Autosomal dominant osteopetrosis type 2 (ADO-2), a benign form of osteopetrosis, is also known as Albers-Schonberg disease. CASE PRESENTATION We report the first successful anterior cruciate ligament (ACL) reconstruction surgery for ACL rupture treatment in a 30-year-old female with ADO-2, who carried a heterozygous missense mutation c.2227C > T (p.Arg743Trp) in exon 23 of the chloride channel 7 (CLCN7) gene. Histopathological analysis of the ruptured ACL sample revealed massive calcium salt deposition in the ligament tissue. A ligament advanced reinforcement system (LARS) artificial ligament was employed in her ACL reconstruction surgery. At her final 16 month's follow-up, she reported no knee instability symptoms and other complications. The range of motion of the affected knee was good. The side-to-side difference in knee laxity, as evidenced by a KT-1000 arthrometer was 0.9 mm. The Lysholm score improved from 45 before operation to 83 after operation. The Tegner activity score improved from 1 before operation to 4 after operation.CONCLUSIONS:
Our findings further confirmed that the newly identified mutated locus (p.Arg743Trp) may lead to acid secretion disorders at different sites (including calcified ACL in our case). In terms of clinical treatment, ligament reconstruction surgery in patients with Albers-Schonberg disease presents a unique challenge to orthopedic surgeons and requires further preparation and time.Palavras-chave
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Base de dados:
MEDLINE
Assunto principal:
Osteopetrose
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Reconstrução do Ligamento Cruzado Anterior
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Lesões do Ligamento Cruzado Anterior
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Instabilidade Articular
Tipo de estudo:
Observational_studies
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Prognostic_studies
Limite:
Adult
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Female
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Humans
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article