Osteogenesis imperfecta is a hereditary connective tissue disease developing based on the structure or synthesis impairment of type 1 collagen and proceeding with diffuse osteoporosis, fragility, fractures and deformities in bones. Bone mineral density can be at normal or even high levels particularly especially in type I and XIII. Here, a 13 year-old boy diagnosed as osteogenesis imperfecta with normal bone mineral density was presented and treatment results were shared. A 13-year-old male patient was brought to hospital with complaint of frequent fracture in bones. It was discovered that there are fracture histories most times with minor traumas in arms and legs. He was born as term 3100 grams and there was no known other disease histories. It was stated that there are frequent bone fractures in father, uncle, aunt, grandmother and cousins. In physical examination, his weight was 1.31 SDS, height was 0.57 SDS, puberty stage was 3 and there was no deformity finding in extremities. Other system examinations were normal. In laboratory, the following was determined; Ca: 10.1 mg/dl (N, 8.810.6), P: 4.8 mg/dl (N, 47), ALP: 376 U/l (N, 74390), PTH: 38.5 pg/ml (N, 1069) and 25(OH) D3: 19.2 ng/ml (N, 20100). In his bone densitometry (DEXA), corrected z score was identified as 1.5. In the genetic analysis, it was established that there was a p.1119T heterozygote mutation (known to cause disease) in COL1A2 gene. Hearing test was normal. In extremity graphics, no radiological finding that made us think osteogenesis imperfecta or skeletal dysplasia and compression fracture was determined in vertebra graphics. Due to recurrent bone fractures, alendronat sodium and vitamin D treatment were initiated. In the first month of the treatment, only minor fracture was developed in his finger and foot following the trauma. DEXA corrected z score taken in the first year following the treatment was established as 5.76 SDS. The aunt and uncle of the patient were found out to have osteogenesis imperfecta. The treatment has been continued since there is a clinical response to alendronat sodium therapy. In osteogenesis imperfecta, while bone mineral density is usually determined low and it increases with the treatment, it can be normal in some types as type I and XIII. In the treatment of these patients, treatment plan should be performed by considering parameters like fracture number, pain, mobilization and quality of life.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology