Carolina Fraga1, Inês Aires Martins2, Telma Barbosa3, Célia Azevedo Soares4,5,6,7, Anabela Bandeira8.
1Pediatrics Department, Centro Materno-Infantil do Norte, Centro Hospitalar Universitário de Santo António (CMIN-CHUdSA), Porto, Portugal,
2Pediatrics Department, CMIN-CHUdSA, Porto, Portugal,
3Pediatric Pneumology Department, CMIN-CHUdSA, Porto, Portugal,
4Serviço de Genética Médica, Centro de Genética Médica Jacinto Magalhães, CHUdSA, Porto, Portugal,
5Unit for Multidisciplinary Research in Biomedicine, Instituto de Ciências Biomédicas Abel Salazar/Universidade do Porto, Porto, Portugal,
6Departamento de Ciências Médicas, Universidade de Aveiro, Aveiro, Portugal,
7Institute for Investigation and Innovation in Health (i3S), University of Porto, Porto, Portugal,
8Reference Center for Inherited Disorders of Metabolism, CMIN-CHUdSA, Porto, Portugal.
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Abstract
Although fractures are common in children, vertebral fractures are exceptional and should raise the suspicion for the presence of osteoporosis. This can be primary, particularly in the presence of positive family history, or secondary to chronic illnesses, endocrine disorders or to some drugs.
We report on a 10-year-old boy with asthma controlled with prolonged inhaled corticosteroids who presented with spontaneous vertebral fractures and decreased bone density. There was positive family history for early-onset osteoporosis. A deleterious variant in gene COL1A2 was identified, diagnosing osteogenesis imperfecta. Bone Mineral Density improved with intravenous bisphosphonates with no further fractures during follow-up period.
Presentation with vertebral fractures is uncommon in COL1A2 Osteogenesis imperfecta. Since there are therapeutic options available that might enhance quality of life, further investigation for primary and secondary causes is imperative in the case of osteoporosis in children.
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