Background: A one-month-old girl was referred to our unit for osteogenesis imperfecta (OI). She was the first child of non consanguineous parents. The father had no history of fracture. The mother, 28 years-old, presented with a severe OI, short adult height (140 cm), moderate scoliosis. She had more than 20 limb fractures, no vertebral fracture and bowing limbs without need of surgery. She received Bisphosphonates during 3 years until 12 years of age. Then she stopped any treatment and medical following in spite of a fracture occurring every year. During pregnancy, she received 100,000 units of 25-hydroxyvitamin D (25OHD), and had a low uncorrected calcium consumption (600 mg/day). At 33 weeks of gestational age, a femoral fracture occurred after a fall. She had an orthopedic management and a laboratory investigation. A vitamin D deficiency was noted. 25OHD level was 4 ng/ml. Vitamin D and calcium supplementation (1g/day) were started with efficiency on laboratory results. The fetus presented signs of OI on the ultrasound: short and bowed long bones.
Neonatal Management: The girl was born at 37 weeks of gestational age by vaginal delivery, SGA with 1.7 kg weight, 37 cm height. Clinical examination and radiographs confirmed OI with bowing of long bones, blue sclera. She had plagiocephaly and an important defect of mineralization of the skull in occipital and fronto-parietal regions. Brain computed tomography confirmed that. 25OH vitamin D was low at birth. We supplemented it and optimized feeding. The first fracture occurred on 1 month, without any traumatism. We started treatment with Zoledronatic Acid injection every 3 months. She is now 15 month-old, with the occurrence of 4 limb fractures and 2 vertebral fractures.
Conclusion: During pregnancy, the mother had vitamin D deficiency and lack of calcium intake. In our case, the impact on the mineralization of the fetus skeleton was severe, affecting the skull. In OI pregnant women, early checking and following of bone and phosphocalcic status, is required to optimize it early with supplementation. OI women should be informed of the risk of defects on mineralization of fetal skeleton and its consequences in case of vitamin D or calcium. Moreover, we should better explain to OI patients the issues of medical following and treatment in adulthood.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology