Abstract
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.
Funder
National Natural Science Foundation of China
Clinical Medical Science and Technology Development Fund of Jiangsu University
Suzhou Key Clinical Diagnosis and Treatment Technology Project
Postdoctoral Research Foundation of China
Senile Health Scientific Research Project of Jiangsu province
Publisher
Springer Science and Business Media LLC
Subject
Orthopedics and Sports Medicine,Rheumatology
Cited by
1 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献