Bone Abstracts

Intravenous (IV) Pamidronate (PAM) has been used in the treatment of Osteogenesis Imperfecta (OI) and is known to increase bone mineral density (BMD) and reduce the incidence of fractures. However an attractive alternative is the more potent IV Zoledronic acid (ZOL).Objectives: To determine the clinical efficacy of IV PAM vs ZOL in children with mild to moderate OI and compare the cost benefits of the two drugs.Methods: A retrospec...

Introduction: In 1979 Sillence described Type II OI as perinatal lethal. We report two children whose features were consistent with Type II OI who survived beyond infancy. Both have mutations previously reported in cases of lethal OI.Case 1: This girl was born full term, small for gestational age (SGA) following antenatal detection of short bowed femora. Skeletal survey showed multiple long bone fractures and a small chest with beaded ribs. A COL1A2 gene...

Hypophosphatasia (HPP) is a rare genetic disease characterised by low tissue-nonspecific alkaline phosphatase activity, causing defective mineralisation of bone and teeth. There is limited data on the measurement of bone mineral density (BMD) and body composition in these children.Objectives: To assess whether BMD and lean body mass (LBM) in treatment naïve children with HPP correlate with functional outcomes using the 6-minute walk test (6MWT)....

Introduction: Although previously babies with genetic type II Osteogenesis Imperfecta (OI) would not have expected to survive, they are now surviving beyond the neonatal period. We describe two such children who have survived beyond infancy.Aim & methods: To identify differences in motor developmental progress between a typical severe (type III) OI child vs two Type II OI children and suggest possible causes. Medical, nursing and therapy (physiothera...

Background: Valproic Acid (VPA) is a commonly used antiepileptic drug in the management of childhood epilepsy. Renal dysfunction presenting as Fanconi syndrome (FS) is a rare side effect of VPA use. This can lead to renal tubular phosphate loss, resulting in hypophosphataemic rickets, low bone mass and fractures. We report 6 children with VPA induced FS from three tertiary paediatric metabolic bone centres across England.Presenting problem: P1: Global de...

Background and objectives: Fracture rate in Osteogenesis Imperfecta (OI) is highest between 0 and 19 years, and associated radiation exposure also carries the highest lifetime cancer risk. Here, we investigate the cumulative effective radiation dose (E) and lifetime cancer risk from diagnostic imaging in OI children. We also explore the hypothesis that negative family history of OI will increase injury-related, fracture-negative X-rays due to parental anxiety.<p class="abs...

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...

Introduction: Hyperphosphatemic familial tumoral calcinosis is a rare genetic disorder causing reduced FGF23 activity. Recurrent and occasionally disabling subcutaneous calcifications are major disease manifestations. We describe the successful use of acetazolamide in two cases presenting in childhood with a homozygous GALNT3 mutation.Case 1: A five year old girl developed tender subcutaneous calcifications in the right elbow which were surgically resect...

Introduction: Hypophosphatasia (HPP) characterized by reduced mineralization occurs from mutations in the tissue non-specific alkaline phosphatase (ALPL) gene. Individuals harbouring bi-allelic mutations are generally reported to be severely affected. We report the findings of in vitro functional studies following site-directed mutagenesis in bi-allelic mutations causing extreme clinical phenotypes; severe perinatal and asymptomatic HPP.Objectiv...

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...