This patient, who has uncontrolled type 1 diabetes, has had multiple fractures in the setting of vitamin D deficiency. DEXA scanning did not demonstrate low bone mineral density; his Z-scores were all above -2. Of note, the spine and total body less head (TBLH) measurements are the most reliable sites for measuring bone density in growing children. The hip can have wide variability as the child grows, and comparing the images may be difficult. Although he could have a complication of an autoimmune disorder, his 25-hydroxy vitamin D levels are lower than the reference range and must be corrected before any further evaluation is undertaken.
Diabetic osteopathy can alter the structure of the bone over time, leading to weaker bones that may easily fracture. However, this patient has only had diabetes for the past 4 years and is not be expected to have frank diabetic complications yet.
The patient does not have many of the physical findings associated with osteogenesis imperfecta. Individuals affected with type 1 osteogenesis imperfecta are usually of normal height and have few bone deformities. This disorder usually becomes evident around the time children start to walk and improves after puberty. However, they usually have blue sclera, and about 50% of individuals experience hearing loss. Other types of osteogenesis imperfecta are more severe, with frequent fractures occurring perinatally to immediately postnatally. Short stature is usually associated along with many bone deformities. Varying degrees of dentinogenesis imperfecta and hearing loss can be present.
This patient also did not demonstrate the phenotype of a child with hypophosphatemic rickets. Not only does he not have the bowing of legs, short stature, or abnormal dentition, his serum phosphorus level is high-normal and not low. He is also not a likely candidate for Paget disease, as his alkaline phosphatase level was within the reference range and not elevated, as is typically the case in Paget disease.
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Cite this: Inas H. Thomas. An Athletic Teen Suddenly Prone to Falls and Fractures - Medscape - Jun 06, 2022.