Abstract
Background
Osteogenesis imperfecta (OI), or Lobstein's disease, is a rare inherited disorder characterized by bone fragility and low bone mass. The symptoms are diverse, with varying severity of skeletal signs and inconstant extra-skeletal signs. Type 1 is the most frequent form (about 60% of cases). Our objective is to describe the different clinical pictures hospitalized in our department during the last 15 years.
Patients and methods
This is a retrospective descriptive study including 12 patients followed for OI, hospitalized in the rheumatology department of Fattouma Bourguiba University Hospital Monastir TUNISIA between 2006 and 2019. The records were collected and analyzed.
Results
There were 9 boys and 3 girls with a mean age of 14.9 ± 8.6 years. Consanguinity was reported in 25% of cases. The chief reason for consultation was recurrent fractures (75%), blue sclera (16.7), and bone deformation (8.3%). The average number of anterior fractures was 5, with low-energy trauma as the mechanism in all cases. Similar cases in the family were noted in 41.6% of cases, in siblings in 25% of cases. The mean age of the first fracture was 4.41 ± 3.2 years. The most frequent fracture sites were respectively: femur (7/12), leg (6/12), tibia (3/12), humerus (4/12), ankle (2/12), and forearm (2/12). The deformity was noted in 58.3% of cases: lumbar kyphosis (2), exaggerated dorsal kyphosis (2), bracketed femurs (2), and anarchic deformity of 2 lower limbs (1). Dentinogenesis imperfecta was found in 8.3% of cases, while ENT examination revealed a conductive and sensorineural hearing loss in 2 patients each. The main radiological abnormalities were diffuse bone demineralization in 9 patients, thinning of the cortical bone in 5 patients, vertebral fractures in 3 patients, and fracture in 2 patients. Bone densitometry showed a mean Z-score of 3.49 ± 1.4 in the lumbar spine. The mean blood calcium level was 2.38 ± 1.15, alkaline phosphatase was elevated in all cases with a mean of 756 ± 624.9, and vitamin D levels were deficient in all cases with a mean of 22.75 ± 5.3. In addition to vitamin-calcium supplementation, all patients received intravenous pamidronate at a dose of 9 mg/kg/year with an average of 6 courses. The main side effects noted at the time of infusion were abdominal pain, polyarthralgia and asthenia (1 patient), chest pain (1 patient), and fever and chills (1 patient). Control bone densitometry showed a mean Z score of 1.81 ± 1.2 in the lumbar spine.
Conclusions
Osteogenesis imperfecta is a severe disease with a risk of serious complications t. In the absence of etiological treatment, symptomatic management must be both early and multidisciplinary.
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