Searchable abstracts of presentations at key conferences on calcified tissues

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 ...

ba0006p116 | (1) | ICCBH2017

Classical SATB2-associated syndrome with severe osteoporosis, recurrent bony fractures and tibial bowing

Jacobs Benjamin , Rose Anna M. , Zulf Mughal M. , Keen Richard , Wakeling Emma L.

Background: Mutations in SATB2 have been described in association with a unique phenotype known as SATB2-associated syndrome (SAS). This condition is characterised by severe intellectual disability affecting speech development, behaviour, facial features and dental anomalies. Skeletal features and osteoporosis have been reported in older individuals (aged 15–36), in association with point mutations. We report a 24-year-old man with a SATB2 misse...

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...