Anterior cruciate ligament rupture in a patient with Albers-Schonberg disease
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 prese...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2022-07-01
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| Series: | BMC Musculoskeletal Disorders |
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| Online Access: | https://doi.org/10.1186/s12891-022-05687-x |
| _version_ | 1818162844990963712 |
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| author | Ke Lu Biao Cheng Qin Shi Xiao-jiao Gao Chong Li |
| author_facet | Ke Lu Biao Cheng Qin Shi Xiao-jiao Gao Chong Li |
| author_sort | Ke Lu |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-11T16:40:08Z |
| format | Article |
| id | doaj.art-643fa6feb07348ed8505a7926d2365e7 |
| institution | Directory Open Access Journal |
| issn | 1471-2474 |
| language | English |
| last_indexed | 2024-12-11T16:40:08Z |
| publishDate | 2022-07-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Musculoskeletal Disorders |
| spelling | doaj.art-643fa6feb07348ed8505a7926d2365e72022-12-22T00:58:21ZengBMCBMC Musculoskeletal Disorders1471-24742022-07-012311610.1186/s12891-022-05687-xAnterior cruciate ligament rupture in a patient with Albers-Schonberg diseaseKe Lu0Biao Cheng1Qin Shi2Xiao-jiao Gao3Chong Li4Department of Orthopedics, Affiliated Kunshan Hospital of Jiangsu UniversityDepartment of Orthopedics, Shanghai Tenth People’s HospitalDepartment of Orthopedics, the First Affiliated Hospital of Soochow University, Orthopedic Institute of Soochow UniversityDepartment of Pathology, Affiliated Kunshan Hospital of Jiangsu UniversityDepartment of Orthopedics, Affiliated Kunshan Hospital of Jiangsu UniversityAbstract 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.https://doi.org/10.1186/s12891-022-05687-xOsteopetrosisCLCN7MutationAnterior cruciate ligamentLARSADO |
| spellingShingle | Ke Lu Biao Cheng Qin Shi Xiao-jiao Gao Chong Li Anterior cruciate ligament rupture in a patient with Albers-Schonberg disease BMC Musculoskeletal Disorders Osteopetrosis CLCN7 Mutation Anterior cruciate ligament LARS ADO |
| title | Anterior cruciate ligament rupture in a patient with Albers-Schonberg disease |
| title_full | Anterior cruciate ligament rupture in a patient with Albers-Schonberg disease |
| title_fullStr | Anterior cruciate ligament rupture in a patient with Albers-Schonberg disease |
| title_full_unstemmed | Anterior cruciate ligament rupture in a patient with Albers-Schonberg disease |
| title_short | Anterior cruciate ligament rupture in a patient with Albers-Schonberg disease |
| title_sort | anterior cruciate ligament rupture in a patient with albers schonberg disease |
| topic | Osteopetrosis CLCN7 Mutation Anterior cruciate ligament LARS ADO |
| url | https://doi.org/10.1186/s12891-022-05687-x |
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