Bone Abstracts

Objectives: Autosomal recessive osteopetrosis (OP) is a rare metabolic bone disease characterized by impaired osteoclast function resulting in defective bone resorption and generalized high bone mineral density (BMD). Excessive bone compromises bone marrow space, leading to marrow failure. The infantile malignant form is typically fatal within the first decade of life. The intermediate form presents later during childhood. Currently, the only potential curative therapy for OP ...

In children with spinal muscular atrophy (SMA): i) describe bone mineral density (BMD) measured by dual-energy x-ray absorptiometry (DXA); ii) examine bone health factors; iii) examine change in BMD over time and pamidronate effect.DXA results, medications, ambulation, 25-OH-Vit D levels, and fracture history were retrospectively reviewed in 14 children (five girls) with SMA. Sites scanned included whole body (WB), lumbar spine (LS), and lateral distal f...

Rett (RTT) syndrome is a neurodevelopmental disorder that affects girls almost exclusively. The majority are related to mutations in the MECP2 gene.Patients with RTT syndrome have a high incidence of fractures that can occur at a young age. One of the objectives of this study was to identify clinical, radiographic and biological parameters associated to fracture incidence.89 RTT patients bearing a MECP2 mutation who had no...

Background: Treatment of osteoporosis with bisphosphonates may result in severe suppression of bone turnover leading to adynamic bone disease. Teriparatide is now commonly used as an anabolic agent in adults with osteoporosis, and has the potential to reverse the effect of bisphosphonates. However its use in pediatrics is restricted to those with closed growth plates and information regarding its effect in this age group limited.Objective: To study the e...

Background: 3 year old boy born to non-consanguineous parents. He was diagnosed to have autism at 2 years of age. He had a history of pica.Presenting problem: He was admitted with severe carpopedal spasms of hands and feet. Investigations revealed severe hypomagnesaemia at 0.26 (0.7–1.0) mmol/l, hypocalcaemia at 1.59 (2.2–2.6) mmol/l, hypokalaemia, hyponatremia and moderately low vitamin D levels. Parathyroid hormone concentration was low. Urin...

Objectives: Neurofibromatosis 1 (NF1) is one of the most common autosomal dominant diseases. Skeletal involvement such as short stature, kyphoscoliosis, tibial bowing and pseudarthrosis are common osseous manifestations of NF1. Moreover, there is a growing evidence that reduced bone mineral density (BMD), is a common feature of NF1 subjects. The aim of the study was to evaluate the usefulness of Bone Mineral Density and Quantitative Ultrasound (QUS) at phalanxes in the assessm...

Objectives: Research studies confirm that children with osteogenesis imperfecta (OI) benefit from co-ordinated multidisciplinary services to optimise outcomes and reduce morbidity and mortality. Implementation of a tertiary paediatric centre of excellence within the Republic of Ireland is contentious due to the absence of data on the prevalence, service needs and medical requirements of these patients.Methods: A retrospective chart review of all patients...

Objectives: Fractures in older children are common, often related to physical activity. In contrast, fractures in infants are rare and especially those involving the femur (upper leg) are infrequent. Femoral fractures in young children are highly suspicious for non-accidental trauma, and screening for possible child abuse should be urgently carried out. However, some metabolic bone diseases, like osteogenesis imperfecta (OI), may predispose to fractures already in infancy and ...

Background: Asfotase alfa therapy improves clinical outcome in young children with severe form of hypophosphatasia (HPP). Treatment outcome in older children (≥12 years) has not been reported.Presenting problem: We report clinical outcome of a 16 year-old male with childhood HPP who started enzyme therapy at age 15 years.Clinical management: The patient was diagnosed with HPP at age 2 years when he presented with premature lo...

Objectives: Autosomal Dominant Hypocalcaemia (ADH) is due to gain-of-function mutations of the CASR resulting in constitutive activation of the GPCR Calcium Sensing Receptor (CaSR) leading to hypercalciuric hypocalcaemia, hypoparathyroidism and occasionally Bartter syndrome type V. Patients usually present with hypocalcaemic seizures at young age. Conventional treatment is with Alfacalcidol and Calcium or PTH injections. We describe a series of five patients with ADH ...