Effect of Pamidronate Therapy in Children with Osteogenesis Imperfecta

Osteogenesis imperfecta (OI), an inherited connective tissue disorder of remarkable clinical variability, is caused by a quantitative or qualitative defect in collagen synthesis and is characterised by bone fragility. A multidisciplinary team approach is essential for diagnosis, and to tailor treatment needs to the severity of the disease and the age of the patient.

Objective: To analyze the clinical and radiological aspects of this condition and to evaluate the response to pamidronate therapy in children with moderate to severe osteogenesis imperfecta.

Methods: This work is a retrospective study with a prospective follow-up of 18 patients, collected at the Pediatrics B department, Mother and Child Hospital, Mohammed VI university hospital, Marrakech, Morocco, during a period spanning 4 ½ years, from January 2013 to June 2017.

Results: clinical presentation was characterized by multiple fractures and deformities in 89% with 11% of cases of antenatal diagnosis. Dentinogenesis imperfecta was present in 56% and blue or gray sclera was found in 94.5%.

All our patients were treated with pamidronate at age-appropriate doses. During the follow-up we found clinical and radiological improvement with a decrease in the fracture rate in all of our patients. Genetic counseling for parents was done.

Conclusion: This study suggests that treatment with pamidronate improves mobility in children with moderate to severe osteogenesis imperfecta and decreases the frequency of fractures.