Fukahori Kyoko, Nirei Jun, Yamawaki Kaoru, Nagasaki Keisuke
Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Departments of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
BMJ Case Rep. 2023 May 15;16(5):e252593. doi: 10.1136/bcr-2022-252593.
A woman in her 30s underwent a 17-week ultrasound which revealed short bowed long bones. Fetal CT at 28 weeks' gestation showed decreased ossification of the skull, a small bell-shaped thorax, hypoplastic vertebrae, and shortening and bowing of the long bones, leading to the diagnosis of osteogenesis imperfecta (OI) type II. The newborn was delivered via caesarean delivery, and tracheal intubation was performed due to the respiratory distress. A heterozygous variant in (c.1679G>T, p. Gly358Val) was ascertained, confirming the diagnosis of OI type II.Cyclic intravenous pamidronate was started at 41 days old with dose modification and was successfully administered every month. Currently, the infant is 8 months old without any new bone fracture. He was extubated successfully at 7 months of age and is now stable using high flow nasal cannula. The efficacy, safety, and optimal dose and timing of cyclic pamidronate for OI type II remain undefined. We report our experience of successful cyclic intravenous pamidronate treatment for an infant with OI type II.
一名30多岁的女性在孕17周时接受了超声检查，结果显示长骨短且弯曲。妊娠28周时的胎儿CT显示颅骨骨化减少、胸廓呈小钟形、椎体发育不全以及长骨缩短和弯曲，从而诊断为II型成骨不全症（OI）。新生儿通过剖宫产分娩，由于呼吸窘迫进行了气管插管。确定了 （c.1679G>T，p.Gly358Val）的杂合变异，证实了II型OI的诊断。41日龄时开始静脉输注环磷酰胺，调整剂量后每月成功给药。目前，该婴儿8个月大，没有出现新的骨折。他在7个月大时成功拔管，现在使用高流量鼻导管情况稳定。环磷酰胺治疗II型OI的疗效、安全性以及最佳剂量和时机仍不明确。我们报告了对一名II型OI婴儿成功进行环磷酰胺静脉治疗的经验。
