skip to content
Dovepress - Open Access to Scientific and Medical Research
View our mobile site

15319

An unusual presentation of osteogenesis imperfecta type I



Case report

(4856) Total Article Views


Authors: Rebelo M, Lima J, Vieira JD, Costa JN

Published Date April 2011 Volume 2011:4 Pages 25 - 29
DOI: http://dx.doi.org/10.2147/IMCRJ.S17929

Marta Rebelo, Jandira Lima, José Diniz Vieira, José Nascimento Costa
Department of Internal Medicine, University Hospital of Coimbra, Coimbra, Portugal

Abstract: Osteogenesis imperfecta (OI) is a rare inherited disorder with a broad spectrum of clinical and genetic variability. The genetic diversity involves, in the majority of the cases, mutations in one of the genes that encodes the type 1 collagen protein (COL1 A1 and COL1 A2), but it is not a requirement for the diagnosis. The most benign form is OI type I. The authors present a case report of a 25-year-old woman who had severe low back pain associated with incapacity to walk and breast-feed post-partum. Symptoms developed 2 weeks after delivery. The radiological examination revealed severe osteoporosis with no abnormalities in the laboratory findings. The clinical signs and a positive personal and family history of multiple fractures in childhood suggested OI type I, although other diagnosis, such as pregnancy-associated osteoporosis, was also considered. The atypical presentation of this rare disorder in adulthood calls attention to the need for early diagnosis for prompt treatment. Treatment of OI is never curative, but it improves the quality of the patient’s life.

Keywords: osteogenesis imperfecta, collagen, pregnancy, osteoporosis


Post to:
Cannotea Citeulike Del.icio.us Facebook LinkedIn Twitter


Readers of this article also read: