Evaluating the Functional Outcomes and the Quality of Life for Pediatric Patients with Osteogenesis Imperfecta after Fracture Treatment with Intramedullary Rodding

Background and Objectives: Osteogenesis imperfecta is a rare pathology involving the bones and the connective tissues, generating alterations that lead to frequent fractures during childhood. When fractures occur at birth, they are associated with an impairment of walking and the quality of life. Although surgical techniques have significantly improved in recent years, functional outcomes and the quality of life for pediatric patients that benefited from surgical management with telescopic rods have been less evaluated. This study aimed to measure functional results and determine the factors that influence the quality of life for the pediatric population diagnosed with Osteogenesis imperfecta and surgically treated using the telescopic rod approach after suffering a fracture or severe deformity. Materials and Methods: We conducted a cohort study that consisted of 15 patients diagnosed with Osteogenesis imperfecta (average age of 11.6 years). All individuals possessed at least one intramedullary telescopic rod as a result of the surgical treatment. Results: We observed that the pain, both acute and chronic, impairs the quality of life and interferes with daily living activities, for instance, self-care tasks. Conclusions: Osteogenesis imperfecta is associated with a severely damaged level of walking. All of the aspects of the pediatric patient’s daily life activity seem to be affected. Furthermore, these patients, especially those residing in rural areas, have a poor quality of life.

Short-term comparison of the use of static and expandable intramedullary rods in the lower limbs of children with osteogenesis imperfecta

ABSTRACT BACKGROUND: Children with osteogenesis imperfecta suffer from frequent fractures and deformities due to skeletal fragility. Stabilisation of fractures, correction of deformity and intramedullary rodding result in decreased pain and improved function. Modern expandable intramedullary rods aim to provide lasting stability during growth, without an increase in complications. The aim of our study was to determine and compare the outcome of static Rush rods and expandable Fassier-Duval rods in terms of complications and reoperation rate. METHODS: We reviewed the records of a cohort of 17 children (seven female) with osteogenesis imperfecta (11 Sillence type III, six Sillence type IV) who were treated with intramedullary rods in the lower limb between 2011 and 2017. They had 64 rodding (38 femoral and 26 tibial) procedures (26 Rush rods and 38 Fassier-Duval rods). These were a primary procedure in 46, and a revision procedure after previous Rush rodding in 18 cases. RESULTS: The overall complication rate was 66% (n=42). There was a higher complication rate in the Rush rod group (81%, n=21) when compared to the Fassier-Duval group (55%, n=21)(p=0.035). The most frequent complication in the Rush rod group was distal deformity as the rod is outgrown (69%, n=18). The most frequent complication in the Fassier-Duval rod group was intramedullary migration due to a failure to expand (45%, n=17). Factors that were associated with increased risk of complications included younger age (p=0.031), type of rod (p=0.035), and deformity as an indication for surgery (77% complications, p=0.033). At a mean follow-up of 3.1 years, the reoperation rate in the Rush rod group was 58% (n=15). Comparatively, at a mean of 3.7 years follow-up, there were no reoperations in the Fassier-Duval group. CONCLUSIONS: Despite the numerous innovations, the surgical management of lower limb deformities and fractures in children with osteogenesis imperfecta remains challenging with a relatively high complication rate. The use of Fassier-Duval rods may result in a lower reoperation rate when compared to Rush rods, in the short term. Level of evidence: Level 4 Keywords: osteogenesis imperfecta, intramedullary rod, Rush rod, Fassier-Duval rod, fracture, deformity

Treatment outcomes of congenital pseudarthrosis of the tibia at Beit Cure International Hospital in Blantyre, Malawi

Background: Congenital pseudarthrosis of the tibia (CPT) is a rare condition. The natural history of CPT includes persistent instability and progressive deformity. Several CPT treatment methods have been practiced, however, in Africa where there is scarce information on the modalities of treatment available and their outcomes. Methods: A retrospective cross-sectional study which was conducted among patients with CPT at Beit Cure International Hospital (BCIH), Malawi. Forty-four patients were recruited in this study and their treatment modalities and outcomes were analyzed. Results: Out of 44 patients recruited in this study, majority (63.6%) were male. The majority of cases were stage 4 congenital tibia pseudarthrosis by Crawford classification. Most patients were treated by more than one surgical modality; however, surgical excision and intramedullary rodding was commonly used (54.7%). The outcomes of treatment were good in 5%, fair in 30%, with amputation in 45% and poor outcomes in 20% of the patients. Complications developed in 60% of patients, predominated by limb length discrepancy. The foot and ankle status were rated by Oxford Foot and Ankle scoring system (OxFAQ). Conclusions: Congenital pseudarthrosis of the tibia is a complex congenital disorder with multiple modalities of treatment. Majority of the patients were treated by more than one operation. Some patients ended up with amputation or poor outcome. Limb length discrepancy, deep infection and pin tract infection are among the common complications. Keywords: congenital pseudarthrosis; tibia; treatment outcomes; Malawi

Ipsilateral Rupture of Quadriceps Tendon with Distal Tibia Fracture: A Case Report and Review of the Literature

Traumatic rupture of the quadriceps tendon by itself is not an uncommon clinical condition. However, its association with concurrent ipsilateral closed distal tibia oblique fracture is exceedingly rare with only one previously reported case in English literature. The dual diagnosis of this atypical combination of injury may be masked by pain and immobilization of the more obvious fracture and may be missed, unless the treating physician maintains a high index of suspicion. Suprapatellar knee pain with or without a palpable gap in the quadriceps tendon and inability to straight leg raise in the setting of a distal tibia fracture should raise concern, but if initial treatment employs a long-leg splint the knee symptoms may be muted. In this report, we describe this unusual combination of injury in a 67-year-old male patient who sustained a trivial twisting injury to the leg. The aim of this report is to raise awareness and emphasize the importance of thorough and repeated clinical examinations in the presence of distracting injuries. Despite the complexity of the problem, standard techniques for quadriceps tendon repair using transpatellar bone tunnels following locked intramedullary rodding of the tibia fracture may lead to optimal outcomes.