A case of osteogenesis imperfecta type II, a diagnosis made almost too late in a resource poor setting

Abstract

Background: Osteogenesis imperfecta (OI) is a rare autosomal dominant disorder of type I collagen (COL I), characterised by excessive bone fragility with low bone mineral density (BMD). Type II is associated with extreme bone fragility leading to intrauterine or early infant death. Objective: To highlight a case of OI type II and the need for an early detection of this rare bone disorder through non invasive prenatal diagnosis. Case Report: We report a case of a full term male neonate with progressive respiratory distress from birth. He was seen in children’s emergency room two hours after vaginal delivery in a peripheral clinic. Pregnancy and delivery were uneventful and the baby was born to non-consanguineous, monogamous parents. On examination he was dyspnoeic, cyanosed with malformed and fractured upper and lower limbs. A working diagnosis of osteogenesis imperfecta type II was made and baby was placed on oxygen via face mask. However respiratory distress worsened and baby died at 6 days of life. Conclusion: Antenatal ultrasonography might have led to diagnosis in utero. If detected prenatally a more appropriate management can be instituted to reduce morbidity and mortality.