Rebelo Marta, Lima Jandira, Vieira José Diniz, Costa José Nascimento
Department of Internal Medicine, University Hospital of Coimbra, Coimbra, Portugal.
Int Med Case Rep J. 2011 Apr 4;4:25-9. doi: 10.2147/IMCRJ.S17929. Print 2011.
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.
成骨不全症(OI)是一种罕见的遗传性疾病,具有广泛的临床和基因变异性。在大多数情况下,基因多样性涉及编码I型胶原蛋白(COL1A1和COL1A2)的基因之一发生突变,但这并非诊断的必要条件。最良性的形式是I型成骨不全症。作者报告了一例25岁女性病例,该患者产后出现严重的腰痛,伴有行走和母乳喂养能力丧失。症状在分娩后2周出现。放射学检查显示严重骨质疏松,实验室检查结果无异常。临床体征以及童年时期多次骨折的个人和家族史阳性提示为I型成骨不全症,尽管也考虑了其他诊断,如妊娠相关性骨质疏松症。这种罕见疾病在成年期的非典型表现提醒人们需要早期诊断以便及时治疗。成骨不全症的治疗无法治愈,但可改善患者生活质量。