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Case Reports: Novel treatment (new drug/interventions; established drug/procedure in new situation)
Cyclic intravenous pamidronate for an infant with osteogenesis imperfecta type II
  1. Kyoko Fukahori1,
  2. Jun Nirei1,
  3. Kaoru Yamawaki2 and
  4. Keisuke Nagasaki1
  1. 1Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
  2. 2Departments of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
  1. Correspondence to Dr Keisuke Nagasaki; nagasaki{at}med.niigata-u.ac.jp

Abstract

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 COL1A1 (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.

  • Radiology
  • Calcium and bone
  • Musculoskeletal and joint disorders

http://dx.doi.org/10.1136/bcr-2022-252593

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    Footnotes

    • Contributors KF drafted the initial manuscript, and reviewed and revised the manuscript. JN and KY obtained clinical data and blood samples, and reviewed and revised the manuscript. KN conceptualised and designed the study.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.