Idiopathic juvenile osteoporosi

BACKGROUND: Idiopathic Juvenile Osteoporosis (IJO) refers to significantly lower than expected bone mass manifesting in childhood with no identifiable aetiology. IJO classically presents in early pubertal period with multiple fractures including metaphyseal and vertebral crush fractures, and low bone-mass. METHODS: Here we describe two patients and provide information on their clinical phenotype, genotype and bone material analysis in one of the patients. RESULTS: Patient 1: 40-year old adult male diagnosed with IJO in childhood who re-presented with a hip fracture as an adult...

Osteoporosis in childhood is uncommon, and it may be secondary to a spectrum of diverse conditions. Idiopathic juvenile osteoporosis is a primary osteoporosis of unknown aetiology present in previously well children and is a diagnosis of exclusion. We describe a 10-year-old prepubertal boy who presented with back pain of 1-week duration. His spinal X-ray showed generalised loss of vertebral body heights in keeping with osteoporosis. Endocrine and haematological work-up were normal. He was treated with vitamin D supplement and intravenous pamidronate...

Juvenile idiopathic arthritis is the most common chronic rheumatic disease of unknown aetiology in childhood and predominantly presents with peripheral arthritis. The disease is divided into several subgroups, according to demographic characteristics, clinical features, treatment modalities and disease prognosis. Systemic juvenile idiopathic arthritis, which is one of the most frequent disease subtypes, is characterized by recurrent fever and rash. Oligoarticular juvenile idiopathic arthritis, common among young female patients, is usually accompanied by anti-nuclear antibodie positivity and anterior uveitis...

Bone health in children with rheumatic conditions may be compromised due to several factors related to the inflammatory disease state, delayed puberty, altered life style, including decreased physical activities, sun avoidance, suboptimal calcium and vitamin D intake, and medical treatments, mainly glucocorticoids and possibly some disease-modifying anti-rheumatic drugs. Low bone density or even fragility fractures could be asymptomatic; therefore, children with diseases of high inflammatory load, such as systemic onset juvenile idiopathic arthritis, juvenile dermatomyositis, systemic lupus erythematosus, and those requiring chronic glucocorticoids may benefit from routine screening of bone health...

BACKGROUND: Paediatric rheumatology service in Sub-Sahara African is virtually not available as there is a shortage of paediatric rheumatologists and other rheumatology health professionals. We aim to describe the clinical spectrum and the frequencies of paediatric rheumatic diseases (PRDs) in Lagos State University Teaching Hospital (LASUTH), Lagos, Nigeria. METHODS: This is a retrospective review of patients with PRDs seen over a five year period (March 2010 to February 2016) at the rheumatology clinic and children ward of LASUTH...

The pathogenesis of osteoporosis, a common disease with great morbidity and mortality, comprises environmental and genetic factors. As with other complex disorders, the genetic basis of osteoporosis has been difficult to identify. Nevertheless, several approaches have been undertaken in the past decades in order to identify candidate genes for bone fragility, including the study of rare monogenic syndromes with striking bone phenotypes (e.g. osteogenesis imperfecta and osteopetroses), the analysis of individuals or families with extreme osteoporotic phenotypes (e...

Atypical subtrochanteric and diaphyseal femoral fractures (AFFs) have emerged as a potential complication of bisphosphonate treatment in adults. Despite increasing off-label use of bisphosphonates in children and adolescents for a variety of skeletal disorders, there have been no reports of AFFs in children or adolescents outside of the osteogenesis imperfecta population. We present the case of a 16-year-old girl who developed a subtrochanteric femoral stress fracture following pamidronate treatment for idiopathic juvenile osteoporosis...

PURPOSE: Idiopathic juvenile osteoporosis (IJO) is a rare condition in children, characterized by bone pain and long bone and vertebral fractures. Previously, IJO bone was solely characterized by histomorphometry and quantitative computed tomography. The goal of this study is to describe IJO bone composition. MATERIALS AND METHODS: Fourier transform infrared imaging (FTIRI), a vibrational spectroscopic technique providing spatially resolved images of chemical composition, was used to determine whether iliac crest biopsies from children with IJO differed in composition from and age- and sex-matched controls, and, as a secondary analysis, whether IJO bone showed the same disease dependent change in composition as do iliac crest bone biopsies from women with post-menopausal osteoporosis (PMO)...

Idiopathic Juvenile Osteoporosis (IJO) is a very rare disease, self restrictive and shows marked, spontaneous improvement during adolescence. The major clinical features were pain with difficulty walking, growth retardation, oral and dental abnormalities with radiographically porous bone structure. A 13-year-old male referred to paediatric dentistry clinic for toothache. The observations made with extra-intraoral clinic examination that one revealed short and skinny stature, diffuse caries in deciduous teeth, abraded lower incisor, deep bite and dysmorphic appearance in permanent incisor...

OBJECTIVES: Patient reported outcomes (PROs) are relevant in rheumatology. Variable accessibility and validity of commonly used PROs are obstacles to homogeneity in evidence synthesis. The objective of this project was to provide a comprehensive library of "validated PROs". METHODS: A launch meeting with rheumatologists, PROs methodological experts, and patients, was held to define the library's aims and scope, and basic requirements. To feed the library we performed systematic reviews on selected diseases and domains...

We report clinical findings, bone mineral density (BMD) and bone biopsy data in ten children with features of classic idiopathic juvenile osteoporosis (IJO). We also screened the patients for mutations in LRP5 and LRP6. We found low BMD in the lumbar spine, the hip and distal radius. In the spine and distal radius, the reduction in BMD was more marked in the trabecular compartment. Biopsy confirmed that the trabecular compartment is more severely involved with reduction in bone formation and increase in bone resorption...

INTRODUCTION: Idiopathic Juvenile Osteoporosis is an uncommon condition that has few case reports in the literature. Reported series indicate that it is a condition classically accompanying vertebral and metaphyseal fractures during the immediate pre-puberty years but that seems to develop naturally during puberty. Current clinical treatment is complicated because of lack of understanding on the origins of Idiopathic Juvenile Osteoporosis. PRESENTATION OF CASE: The 13-year-old female patient with no former complaints had pain in her left hip while walking 2 years ago...

Bisphosphonates are employed with increasing frequency in various pediatric disorders, mainly associated with osteoporosis. After cessation of bisphosphonate treatment in children, skeletal radiologic changes have been documented including dense metaphyseal lines of the long bones and "bone in bone" appearance of the vertebrae. However, the evolution of these radiographic changes has not been fully explored. We describe the MR imaging appearance of the spine that, to our knowledge, has not been previously addressed in a child with idiopathic juvenile osteoporosis who had received bisphosphonates and emphasize the evolution of the radiographic findings of the spine and pelvis over a four-year period...

INTRODUCTION: The link between bone mass and body composition is widely recognized, but only few works were selectively performed on subjects with juvenile idiopathic arthritis. The aim of our study was to investigate the effect of body composition on bone mineral density (BMD) in Moroccan patients with juvenile idiopathic arthritis. METHODS: Thirty three children with juvenile idiopathic arthritis (JIA) were included in a cross-sectional study. The diagnosis of JIA was made according to the criteria of the International League of Association of Rheumatology (ILAR)...

No abstract text is available yet for this article.

Numerous rheumatic diseases, including rheumatoid arthritis, juvenile idiopathic arthritis, psoriatic arthritis, ankylosing spondylitis, systemic lupus erythematosus, systemic sclerosis, dermatomyositis/polymyositis and vasculitis are characterized by osteoporosis and fragility fractures. Inflammatory cytokines, glucocorticoid treatment, immobilization and reduced physical activity due to painful joints and muscle weakness are considered the main risk factors that cause low body mass density values in these diseases...

Children with chronic illnesses such as Juvenile Idiopathic Arthritis and Crohn's disease, particularly when taking glucocorticoids, are at significant risk for bone fragility. Furthermore, when childhood illness interferes with achieving normal peak bone mass, life-long fracture risk is increased. Osteopenia and osteoporosis, which is increasingly recognized in pediatric chronic disease, likely results from numerous disease- and treatment-related factors, including glucocorticoid exposure. Diagnosing osteoporosis in childhood is complicated by the limitations of current noninvasive techniques such as DXA, which despite its limitations remains the gold standard...

Chronic idiopathic hyperphosphatasia(CIH) or juvenile Paget disease is believed to be a distinct disease characterized by an increase in the serum alkaline phosphatase, cortical thickening and bowing of the long bones, especially the femora. It is a rare autosomal recessive bone disorder, with excessive bone resorption and bone formation. Skeletal malformations in the legs may cause problems in walking and may eventually result in short stature. The radiographic appearances include widening of the diaphyses, vertebral osteoporosis, acetabular protrusion, and thickening of the skull vault...

Children with systemic Juvenile Idiopathic Arthritis (sJIA), the most severe subtype of JIA, are at risk from destructive polyarthritis and growth failure, and corticosteroids as part of conventional treatment can result in osteoporosis and growth delay. In children where there is failure or toxicity from drug therapies, disease has been successfully controlled by T-cell-depleted autologous stem cell transplantation (ASCT). At present, the immunological basis underlying remission after ASCT is unknown. Immune reconstitution of T cells, B cells, natural killer cells, natural killer T cells and monocytes, in parallel with T-cell receptor (TCR) diversity by analysis of the β variable region (TCRVb) complementarity determining region-3 (CDR3) using spectratyping and sequencing, were studied in five children with sJIA before and after ASCT...

UNLABELLED: Bisphosphonate use has been described in children diagnosed with osteogenesis imperfecta (OI), fibrous dysplasia, neuromuscular disorders, bone dysplasia, idiopathic juvenile osteoporosis, rheumatologic disorder and even Crohn's disease. In OI patients, bisphosphonates have become an important symptomatic therapy for moderate and severe forms of the disease, because their inhibitory effect on osteoclasts increases bone mineralization and density, thereby reducing the risk of bone fractures...