Bone Abstracts

Objectives: The clinical assessment of bone mass in children with osteogenesis imperfecta (OI) is normally assessed by DXA. Further information about bone microarchitecture is obtained from bone biopsy which is invasive and requires anaesthetic. High-resolution peripheral quantitative computer tomography (HRpQCT) is an in-vivo imaging modality capable of assessing skeletal microstructure and integrity to a resolution of 80 μm. To date, no HRpQCT studies have incl...

Objectives and method: We retrospectively reviewed records of current patients with osteogenesis imperfecta (OI) to identify those on risedronate, doses used and effects of treatment. BMD changes over time were calculated as difference between measurement before risedronate and at one year (including measurements −3–0 m and 10–14 m after starting risedronate respectively).Results: 219/296 (74%) patients with OI had received bisphosphonate...

Objective: In 2018 we started treating children with X-linked hypophosphataemic rickets (XLH) with burosumab, initially as part of an industry-sponsored early access program. We present what we did, the barriers to implementation and broader lessons for the introduction of treatments for rare bone diseases in the future.Method: Firstly, we identified suitable patients under the age of 18 years with XLH. For convenience we arranged dedicated clinics in wh...

Objectives: Guidelines for treatment of vitamin D deficiency (VDD) vary. We aimed to review the range of treatment regimens for VDD used locally and variation in responses.Methods: We conducted a retrospective review of the records of consecutive patients referred to a Children’s Bone Disease Service with a putative diagnosis of VDD over a 14-month period. Data collected includes vitamin D type used, dose and duration of treatment, and pre- and post...

Background: Measurement and interpretation of metaphyseal shape in children is difficult. We aim to develop relevant assessment methods using commonly available spiral computed tomography (CT) scanning.Methods: We analysed 12 pairs of age and pubertal stage matched subjects from a larger group of children recruited into a non-interventional case–control study in which all had suffered trauma; half had sustained a fracture. Each subject underwent ant...

A first twin born at 28 weeks gestation weighing 630 g underwent an end-to-end anastamosis for colonic stricture on day 92 of life. He collapsed with severe Escherichia coli sepsis post-operatively and became anuric. Veno–veno haemofiltration (CVVH) was instituted as a life-preserving measure, continuing for 3 days.On day 119, osteopaenia and rachitic changes were noted on a chest X-ray. Review of his prior biochemistry showed a precipitous...

Background: There is currently considerable clinical and academic interest in vitamin D in children and young people. This partly relates to recognition of a resurgence of symptomatic vitamin D deficiency with reports of children presenting with rickets or hypocalcaemic symptoms. An additional development has been the recognition that vitamin D may have a physiological extraskeletal role beyond its traditional function as a key regulator of calcium and bone metabolism.<p c...

Type V OI is characterised by interosseous membrane calcification and hyperplastic callus formation, but the infantile phenotype is less well recognised. In 2012 Arundel et al. described distinctive radiographic changes in an infant with type V OI. We report two further male infants (with genetic confirmation of type V OI) confirming the highly characteristic and consistent radiographic appearances that should aid early diagnosis.Case 1 – P...

Objectives: Type V osteogenesis imperfecta (OI) results in abnormal modelling of the ulna, dislocation of the radial head and interosseous membrane calcification (IOM). Individuals develop reduced functional ability as a consequence of reduced range of movement (ROM) including elbow flexion and/or supination, which may be intrinsic or secondary to the radiographic findings. We describe the evolution of radiographic and functional parameters in a cohort seen in our centre.<...

Background: A 3.2 year old boy was reviewed following 2 low trauma femoral fractures. He had been born at 31 weeks gestation, his mother having been diagnosed with metastatic breast cancer at 12 weeks gestation. She received chemotherapy at 20 weeks gestation and was given intravenous zoledronic acid (ZA) during the second trimester for hypercalcaemia.Presenting problem: At 2.7 years, he fell on a tarmacked surface sustaining a diaphyseal fracture of his...