Patient's question:
Okay, here is the translation following your instructions:Four tibial fractures, including long fractures, my leg is so fragile it breaks at the slightest touch.
Doctor's answer:
Osteogenesis imperfecta, also known as brittle bone disease, is characterized by systemic connective tissue abnormalities. Its features include multiple fractures, blue sclera, progressive hearing loss, dental changes, joint laxity, and skin abnormalities. Genetically, it is predominantly autosomal dominant, although some cases exhibit autosomal recessive inheritance, and cases with have also been reported.Guidelines: The primary focus is on preventing fractures, improving the load-bearing axis, enhancing bone strength, and restoring function. In the late 1980s, there were several reports of trials using calcitonin for treatment, which could be administered via nasal mucosal absorption. Salmon calcitonin was given for 2–12 months, but the results were unsatisfactory. Apart from a slight increase in urinary excretion of proline 4–5 months after administration, no other changes were observed. Bone density did not change before or after treatment.
Huaux (1988) reported the use of APD [(3-amino-1-hydroxypropylidee)-1,1-biphosphonate) for severe cases, resulting in increased bone density in the metaphyseal region after treatment. In recent years, Chen Shu et al. reported the combined use of calcitriol and calcipotriol to treat osteogenesis imperfecta patients with pain symptoms. Symptoms improved within weeks of treatment, and bone density increased along with cortical thickening after 3 months.
With the development of rehabilitation medicine, Gerber et al. (1990) proposed a systematic rehabilitation concept for infants and children with osteogenesis imperfecta. Under strict protection, hydrotherapy, sit-up exercises, and strengthening of pelvic and lower limb muscles were recommended. After patients could sit independently, they practiced standing with long leg orthoses, followed by walking with orthotic support and gaiters. A combination of comprehensive rehabilitation and surgical treatment yielded better results. Letts et al. suggested that children could wear vacuum pants orthoses to practice standing. This method is comfortable, safe, and reduces the incidence of fractures. Bone density also increased after rehabilitation treatment.
To stabilize fractures and increase the strength of fragile bones, infants could undergo percutaneous or intramedullary nailing at the fracture site to temporarily maintain proper bone alignment. At this stage, the nails did not necessarily need to fully traverse the medullary cavity; partial placement within the cavity or alongside the bone also helped. After 3–4 years of age, extendable intramedullary rods could be used.
Segmental osteotomy with intramedullary nails or extendable intramedullary rods is an effective method for treating complex deformities caused by osteogenesis imperfecta. It allows for the correction of multiple deformities in one stage, proper realignment of bone axes, and strengthening of fragile bones, significantly improving function. Surgery is not suitable for very severe cases but should be chosen for patients who can regain the ability to stand and walk after limb deformity correction. Accurate assessment of the actual state of deformed bones is crucial, as deformities are not only angular or bow-shaped but often involve severe torsion. Standard X-ray films make it difficult to assess medullary canal width, requiring segmental osteotomy and canal expansion. After realignment, the type of internal support must be prepared thoroughly preoperatively.
There are two types of extendable intramedullary rods: the Balley-Horbow rod and the Sheffield rod. The internal support must be placed with sufficient length. For the femur, the distal end should extend through the plating to reach the level of an adult tarsus, positioned centrally or near centrally for optimal support to the diaphysis and metaphysis. For bilateral femoral and tibial deformities, it is advisable to correct the femora first, followed by the tibiae, as simultaneous correction of both bones on the same side is difficult to maintain postoperatively. The femur generally does not require bone grafting, but older children with tibial segmental osteotomies may benefit from bone grafting due to the risk of nonunion. A high proximal femoral osteotomy line may lead to postoperative hip varus. Due to the prolonged bone healing time, reliable orthotic protection is essential. Internal supports should be replaced periodically as the child grows.
50–70% of osteogenesis imperfecta cases are associated with spinal deformities, making treatment very challenging. When lightweight orthoses are ineffective, spinal fusion may be considered.
Lifestyle Management: Prognosis varies depending on the type and severity of the condition. According to Shapiro (1985), the mortality rate for congenital Type I was 94%, with survivors requiring lifelong wheelchairs. For congenital Type II, the mortality rate was 8%, with 58% using wheelchairs and 33% able to walk. For late-onset Type I, 33% used wheelchairs and 67% could walk, while late-onset Type B had a 100% walking rate.
Porat (1991) summarized the results of 20 cases using 32 B-D rods and 24 intramedullary nails. Postoperatively, 8 cases improved in walking ability, 3 deteriorated, and 9 showed no change. Stockley (1989) reviewed 24 cases using 83 B-D rods, with 17 switched to Sheffield rods. Among the 24 cases, only 8 could walk preoperatively, but 20 could walk postoperatively, with 15 requiring no assistive devices.