Treatment of ACL injury in patients with Osteogenesis imperfecta: case report.

Abstract

Introduction

Osteogenesis imperfecta (OI) is a genetic connective tissue disorder resulting from mutations in collagen I. It is characterized by bone fragility and musculoskeletal manifestations such as spinal deformity, ligament laxity, and osteoporosis.

There are few reports on soft tissue injuries in OI. There are case reports in the literature of patients with OI and anterior cruciate ligament (ACL) tears who were treated with ACL reconstruction. These reports mention the care taken during the surgical procedure and rehabilitation of these patients, given their characteristics related to their underlying pathology.

Case

A 29-year-old male was diagnosed with OI in 1997 and had a history of multiple fractures treated conservatively and surgically on 15 occasions.

He presented with his current condition for 9 months. He presented with a fall in a motorcycle accident, resulting in forced valgus of the right knee, which progressed with pain, swelling, and functional limitation. Initial evaluations were conducted with conservative management for an apparent proximal tibial fracture. However, as the pain and instability persisted, the patient was referred to our institution, where a diagnosis of ACL tear was made and surgical treatment was initiated with ACL reconstruction using a hamstring autograft.

Intraoperative findings included poor bone quality during graft tunneling and fixation, and generalized ligament laxity. Despite this, adequate stability was achieved during reconstruction, and the patient was discharged the following day with free mobility, progressive partial weight-bearing of the limb with the use of crutches, and no orthosis.

During follow-up visits (2, 6, and 12 weeks), the patient's progress was favorable, with adequate pain control, full range of motion, and a firm Lachman brace. The patient progressed with full weight-bearing and began a strengthening program at week 6. At week 12, a follow-up visit was requested with the Sports Medicine Department to assess strengthening progress and return to sport.

The patient is currently 15 weeks postoperative and has favorable results on the Lysholm, IKDC, Cincinnati, and MARS functional scales.

Discussion

OI is a syndrome manifesting in tissues containing type I collagen (bone, teeth, sclera, ligaments, and tendons), with bone fragility being the main characteristic of this pathology.

Ligament laxity has been described in OI, however, with few reports of ligament injuries in the literature.

Case reports of patients with OI and a complete ACL injury discuss care during reconstruction, given bone fragility and the risk of fracture.

Conclusion

There is limited literature on OI and ACL injury. It is important to consider bone quality and ligament hyperlaxity, as these factors can determine the risk of graft failure during surgical treatment.

We propose a specific postoperative follow-up plan for these patients, with the goal of determining ideal care and rehabilitation progression to prevent surgical treatment failure.