Bone Abstracts

Background: Atypical Femur Fracture (AFF) has become widely reported as a complication of bisphosphonate therapy in adults since the first case report in 2005. A trend towards a similar pattern of fractures has been reported in children in Sheffield in 2012. A 13 year old boy was reported in 2014 with an ‘AFF’ of the tibia but that fracture did not meet the standard diagnostic criteria of AFF. Last year a 16-year-old girl treated with pamidronate for idiopathic juven...

Objective: The significance of low alkaline phosphatase (ALP) is often not recognised by clinicians. It is the hallmark of hypophosphatasia and this oversight leads to delays in diagnosis, inappropriate treatment and potentially harm. Using the standard that an abnormal result should be recognised by the clinician and the potential cause and need for further investigation documented in the medical records we conducted an audit of our practice at the Royal National Orthopaedic ...

: Hyperphosphatemic tumoral calcinosis (HTC) is a rare autosomal recessive metabolic disorder characterized by ectopic calcifications due to progressive deposition of basic calcium phosphate crystals in soft tissues. The biochemical hallmark of HTC is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in three genes: in the fibroblast growth factor-23 gene (FGF23) coding for a potent phosphaturic protein, in GALNT3, g...

Background: Camurati-Engelmann disease (CED) is a rare bone dysplasia characterised by hyperostosis and sclerosis of the diaphyses of the long bones and skull. It is caused by autosomal dominant gain-of function mutations within TGFB1, which result in increased activity of transforming growth factor β1 (TGF-β1). It typically presents in mid-childhood with bone pain, myopathy and progressive immobility. Evidence for treatment is based on a number of case repo...

Background: Mutations in the ENPP1 gene have been identified in individuals with generalized arterial calcification of infancy (GACI), a life-threatening disorder characterized by calcification in the blood vessels, because of reduced availability of pyrophosphate. We describe a case of GACI due to a novel ENPP1 mutation.Presenting problem: The patient, born at term to non-consanguineous parents, was referred to us at birth with weak femoral pulses for e...

Objectives: We recently demonstrated that cow’s milk allergic infants who received an amino acid-based formula (AAF) for 16 weeks as oral feeding had adequate mineral status (1). One factor that may negatively affect mineral solubility and bioavailability and hence mineral status, is high gastric pH (2), but data on this in infants are lacking. Therefore, the present study evaluates serum concentrations of phosphorus, calcium and magnesium in a subgroup of infants on AAF ...

Objectives: To characterize clinical features and long-term outcome of CRMO, a rare inflammatory bone disease of childhood and adolescence, which forms part of the spectrum of chronic non-bacterial osteomyelitis (CNO).Methods: We studied 33 patients with an established diagnosis of CRMO followed at the Centre for Bone Quality of the Leiden University Medical Center from 1994 to 2018. Demographic and clinical data were collected at presentation and last f...

Background: Primary tumoral calcinosis is an orphan disease. The data about the incidence of this disease, as well as clinical recommendations for treatment are not presented in the literature.Presenting problem: Two patients – 11.5 years old boy and 8 years old girl with primary tumoral calcinosis had multiple foci of the subcutaneous calcification, walking impossibility, wheel-chair condition, fatigue, high fever and equinus deformity of the left ...

Vertebral fractures (VF) defined by morphometric analysis of spine radiographs are the most common complication of osteoporosis. Those that come to medical attention, with symptoms such as back pain and kyphosis are termed clinical vertebral fractures (CVF) and account for significant morbidity and mortality. Although much progress was made in identifying loci for bone mineral density, the genetic determinants of CVF remain unclear. Here we present the initial results from a g...

Objectives: Low bone mass in adolescent idiopathic scoliosis (AIS) has been well reported, however the etiologies of the disease and this abnormal phenotype were still unknown. Leptin have profound effects on bone metabolism and skeletal growth, and was speculated to play a role in the etiopathogenesis of AIS. The objective of this study was to investigate the bone quality in AIS and its association with leptin and soluble leptin receptor (sOB-R).Methods...