Bone Abstracts

Background: Torticollis in toddlers is most frequently a manifestation of traumatic atlantoaxial rotatory displacement or oropharyngeal inflammation, and rarely due to retropharyngeal abscesses and pyogenic cervical spondylitis. Rarely, intermittent torticollis may be caused by posterior fossa tumors. A very rare case of chronic intermittent torticollis due to upper spine Ewing sarcoma is presented.Presenting problem: A 2.2 year-old girl suffered four ep...

Objectives: Different versions of the Childhood Health Questionnaire (CHAQ) have been used in Paediatric Rheumatology since 1994 to establish levels of functional disability. To date, use of the CHAQ has not been reported in Osteogenesis Imperfecta (OI). The aim of this study was to establish if disability scores generated from a modified CHAQ (MCHAQ) correlate with OI severity.Methods: The MCHAQ was developed to reflect the specific needs of children wi...

Background: Osteoporosis in children with osteogenesis imperfecta (OI) type 1 and acute lymphoblastic leukaemia (ALL) is characterised by high bone turnover. However the ability of spontaneous healing and reshaping of bone is retained in ALL even in the absence of bisphosphonate (BP) therapy, but impaired in OI.Aim: To compare the response to BP therapy in children with ALL and OI.Methods: Retrospective case note review of children...

Objectives: Burosumab, a monoclonal antibody that therapeutically targets the underlying elevated levels of fibroblast growth factor 23 (FGF23) in X-linked hypophosphatemia (XLH), is now available to children out of trial conditions. Our objective was to describe the effect of burosumab on quality of life, functionality and pain in a clinical setting.Methods: Questionnaire tools were completed at baseline, 6 and 9 months for 9 children with XLH starting ...

Burosumab, a monoclonal antibody targeting fibroblast growth factor 23, is now available for clinical use in children with X-linked hypophosphatemia (XLH). We aimed to explore the effects of burosumab in children with XLH in a clinical setting, considering: a) Biochemistry b) Growth c) Lower limb deformity (LLD) d) Radiology e) Motor function<p class="abstext"...

Background: The development of hypophosphataemic rickets in infants fed with the elemental formula (EF) Neocate® has been recently reported. We present seven cases of exclusively Neocate-fed babies who developed hypophosphataemic rickets.Presenting problem: Three patients (P1,3,4) had incidental findings of rickets on chest X-rays, two (P2,6) developed leg deformities and rickets was confirmed on X-rays, and two (P5,6) presented with femu...

Objectives: This cross-sectional observational study examined peripheral long bone material and structural differences in youth at risk of secondary osteoporosis across disease-specific profiles using peripheral Quantitative Computed Tomography (pQCT).Methods: Scans of the upper (radius; ulna) and lower (tibia; fibula) limbs of children at 4% distal and 66% mid-shaft sites were undertaken using pQCT. Specific groups were those with (1) increased risk of ...

Biographical DetailsM van den Heuvel-Eibrink is Associate Professor of Pediatric Oncology at the Erasmus MC/Sophia Children’s Hospital, Rotterdam, The Netherlands. She began her medical career with an MD from the University of Utrecht and following a number of years of clinical work in the pediatric oncology field completed her PhD in Rotterdam in 2001. Since 2009 Dr M van den Heuvel...

Objectives: X-linked hypophosphataemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralisation of bone and rickets. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. Real-world evidence is important in validating the findings of clinical studies. We report relevant real-world biochemical data on children under five years ...

Objectives: X-linked hypophosphataemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralisation of bone resulting in rickets, skeletal abnormalities, physical impairment, weakness, and pain. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. Real-world evidence is important in validating the findings of clinical studies. We...