Bone Abstracts

Background: Osteoporosis-pseudoglioma (OPPG) syndrome is an autosomal recessive disorder characterised by severe juvenile osteoporosis and congenital or infancy-onset visual loss. OPPG is caused by loss of function mutations in LDL receptor-related protein 5 (LRP5) gene. We present a 13-year-old child with a homozygous mutation in LRP5 and low bone mass but without visual loss.Presenting problem/clinical management: This child presented with multiple low...

Background: Activating mutations in the calcium sensing receptor can result in severe hypoparathyroidism with symptomatic hypocalcaemia. Complications of treatment with calcitriol or alfacacidol include hypercalciuria, nephrocalcinosis and renal failure. The use of synthetic parathyroid hormone (PTH 1–34, teriparatide) provides a more physiological treatment option and reduces the risk of hypercalciuria.We report our experience with such a patient w...

Severe generalised recessive dystrophic epidermolysis bullosa (RDEB) is a rare disorder resulting from loss of function mutations in the type VII collagen gene (COL7A1). Although RDEB is characterised by severe skin blistering and erosions following minor mechanical trauma, it is a multisystem disorder with pubertal delay and low bone mass as part of the many complications.Children with RDEB have been described as having inadequate gains in bone...

Background: Dilated cardiomyopathy is the leading cardiac cause of death in children. Treatment options include heart transplantation. Reversible causes are rare but hypocalcaemia secondary to vitamin D deficiency is a recognised cause and presents during infancy in at risk populations. Risk factors include babies who were breast fed, dark skinned and from mothers with vitamin D deficiency. We present an unusual case of vitamin D replete, hypocalcaemic cardiomyopathy secondary...

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...

Background: The development of hypophosphataemic rickets in infants fed with the elemental formula (EF) Neocate® has been recently reported. We present seven cases of exclusively Neocate-fed babies who developed hypophosphataemic rickets.Presenting problem: Three patients (P1,3,4) had incidental findings of rickets on chest X-rays, two (P2,6) developed leg deformities and rickets was confirmed on X-rays, and two (P5,6) presented with femu...