Bone Abstracts

Background: A 9-month-old boy was diagnosed with rickets at the age of 6 months. He was born at term in India, following a normal pregnancy. Mother had taken folic acid and calcium, but not vitamin D, as this is the policy for pregnancy vitamins in Kerala.Presenting problems: At 6 months of age he was seen for routine vaccination. The paediatrician noted a prominent forehead and swollen wrists. Wrist x-ray was said to show early rickets. Blood tests show...

Aims: To review changes in the advice regarding vitamin D deficiency in the UK and compare these with other national guidance.Methods: All Vitamin D guidance in the Royal College of Paediatrics and Child Health 2003 guide (Medicines for Children) and in the eight editions since the British National Formulary for Children (BNFc) was first published in 2005 was reviewed.Results: Dosage and indications of prevalence are shown in the T...

Background: Fibrodysplasia ossificans progressiva (FOP) is a rare condition characterised by congenital malformation of the great toes and progressive heterotopic endochondral ossification. The disease progresses with episodic flare-ups, resulting in disabling cumulative immobility. The discovery of the ACVR1 gene as the cause of FOP has allowed identification of therapeutic targets. Palovarotene, a retinoic acid receptor gamma agonist, is in phase 2 clinical trials.<...

Objective: Biochemical assessment of teenage patients with adolescent idiopathic scoliosis (AIS).Methods: Blood sampling from 120 patients with AIS aged 12–17 years. The patients all had significant scoliosis and blood samples were taken a few days or weeks before they underwent scoliosis surgery. Serum 25-hydroxy-vitamin D (25-OHD), calcium, phosphate, alkaline phosphatase and parathyroid hormone (PTH) were measured. Patients with a 25-OHD level be...

Fibrodysplasia ossificans progressiva (FOP; OMIM #135100) begins in childhood and leads to irreversible restriction of movement, functional impairment, and shortened life-span. Individuals with FOP develop progressive limitations in chest expansion, resulting in restrictive lung disease. Current management guidelines published in 2011 (1) highlight that Influenza may be a causative factor for FOP flare-ups, and can also cause potentially deadly cardiopulmonary complications, e...

Background: Gorham Disease is a rare condition characterised by massive osteolysis. The pathophysiology is related to angio/lymphatic proliferation within bone. No genetic transmission has been identified and onset occurs in patients of all ages. Surgical fixation of the spine may be unsuccessful due to progressive osteolysis of bone surrounding the metalwork, or of the bone graft.Presenting problem: An 11 year-old boy presented with a 2 year history of ...

A healthy 8-year-old girl of Nigerian origin, presented in January 2014 with a 2 month history of progressive pain and swelling of the right 2nd, 3rd and 4th toe. There was no preceding trauma or illness. Those toes were swollen, tender and cold to touch, with bluish skin discoloration (Figure 1).She had normal peripheral pulses. Her inflammatory markers were normal, as was haemoglobin electrophoresis. A Doppler ultrasoun...

Objectives: To assess the role of whole-body MRI in the diagnosis and management of chronic recurrent multifocal osteomyelitis (CRMO) is a benign and non-infective auto-inflammatory bone disorder characterised by multiple and recurrent inflammatory bone lesions. No universal diagnostic criteria exist.Methods: Retrospective review of CRMO cases diagnosed at this hospital between 2008 and 2014. Cases were identified from patient records and clinical inform...

Objectives: The main aim of the study is to describe a new method of quantitative, MRI-based assessment of inflammation in children with chronic recurrent multifocal osteomyelitis (CRMO).General hypothesis: The main hypothesis is that the bone marrow edema, as detected in CRMO with MRI, can be quantified to aid early diagnosis and help identify clinically silent lesions.Methods: We performed a retrospective analysis of static MRI s...

Background: Chronic recurrent multifocal osteomyelitis (CRMO) is an auto-inflammatory bone disorder that has been difficult to diagnose in the past. Diagnosis used to depend on bone biopsy but can now be made with whole-body MRI scan.Presenting problem: A 9-year-old healthy girl had a 2-year history of pain, swelling, redness and heat in her right foot following a fall from bars in the park. She had an X-ray of her foot on the day of injury which was rep...