Searchable abstracts of presentations at key conferences on calcified tissues

ba0004p54 | (1) | ICCBH2015

Vitamin D overdose: Poor dosage guidelines for babies?

Peeva Daniela , Jacobs Benjamin

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...

ba0004p122 | (1) | ICCBH2015

Phalangeal microgeodic disease: A rare cause of painful swollen toes

Govindan Ranjith , Green Ruth , Dyankova-Peeva Daniela , Keen Richard , Jacobs Benjamin

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...

ba0006p040 | (1) | ICCBH2017

Atypical femoral fractures in 2 children treated with bisphosphonates

Jacobs Benjamin , Brain Caroline , DeVile Catherine , Allgrove Jeremy , Peeva Daniela , Hashemi-Nejad Aresh , Mughal M Zulf

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...

ba0006p105 | (1) | ICCBH2017

Low serum alkaline phosphatase is often not recognised by clinicians

Moylan Alex , Zulf Mughal M. , Wakeling Emma L. , Peeva Daniela , Jacobs Benjamin

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 ...

ba0006p131 | (1) | ICCBH2017

The treatment of Camurati-Engelmann disease with Losartan: a case report

Moylan Alex , Wakeling Emma L. , Mughal M. Zulf , Keen Richard , Thornton Matt , Peeva Daniela , Jacobs Benjamin

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...

ba0006p038 | (1) | ICCBH2017

Hypophosphatasia associated with acute disseminated encephalomyelitis (ADEM): causal relationship or coincidence?

Jacobs Benjamin , Gall Angela , Peeva Daniela , Lacassagne Sandrine , Talwar Dinesh , Wakeling Emma L , Tenorio Jair , Mughal M Zulf

Background: Hypophosphatasia is generally regarded as a disease of bone and teeth. Lack of Tissue Non-Specific Alkaline Phosphatase (TNAP) leads to an accumulation of inorganic pyrophosphate and the Vitamin B6 metabolite pyridoxal 5′-phosphate (PLP), a reduction in pyridoxic acid (PA) and increased PLP/PA ratio. Vitamin B6 deficiency in the brain impairs synthesis of neurotransmitters, and is a well-recognised cause of neonatal seizures. We have found no previous reports...