Searchable abstracts of presentations at key conferences on calcified tissues

ba0002p51 | (1) | ICCBH2013

Mild visual impairment in a 13-year-old child with osteoporosis-pseudoglioma syndrome

Cheung Moira , Brain Caroline , Allgrove Jeremy

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...

ba0002p57 | (1) | ICCBH2013

Heterozygous mutation in GALNT3 in a case of hyperphosphataemic familial tumoral calcinosis

Knight Katie , Cheung Moira , Allgrove Jeremy

Background: Hyperphosphataemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive condition in which increased renal phosphate reabsorption is associated with elevated serum phosphate, inappropriately normal or raised PTH and extraosseous calcification. It is caused by mutations in genes related to phosphate metabolism: fibroblast growth factor 23 (FGF23), UDP-N-acetyl-D-galactosamine:polypeptide N-acetylgalactos...

ba0004p196 | (1) | ICCBH2015

Early onset cataract in an infant with activating calcium sensing receptor mutation

Ramaswamy Priya , Ryalls Michael , Allgrove Jeremy

Background: A 3 month-old boy was born at term, to non-consanguineous parents by spontaneous vaginal delivery, in good condition, weighing 4.19 kg. Newborn examination, including eyes, was normal prior to discharge. He has two older brothers in good health.Presenting problem: He was admitted at 7 days of life with focal seizures and hypocalcaemia (1.5 mmol/l), hypomagnesaemia (0.6 mmol/l), hyperphosphataemia (3.7 mmol/l) and inappropriately low parathyro...

ba0002p197 | (1) | ICCBH2013

Parathyroid hormone administered by continuous s.c. infusion is more effective than when given by intermittent injection

Cheung Moira , Buck Jackie , Brain Caroline , Allgrove Jeremy

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...

ba0004p151 | (1) | ICCBH2015

Do children with mild to moderate osteogenesis imperfecta (OI) with abdominal muscle weakness have a higher incidence of pars defects? A physiotherapy pilot

Hupin Emilie , Edwards Karen , Chueng Moira , Allgrove Jeremy , DeVile Catherine

Objective: Osteogenesis imperfecta (OI) is most commonly caused by a defect in the genes that produce type I collagen. Clinical features include low bone mass, fractures and spinal abnormalities. Pars defects are abnormalities in the pars interarticularis of vertebrae. There is a higher incidence of pars defects in the lumbar spine in children with OI compared to the normal population. Abdominal muscle weakness and altered spinal postures are common presentations in the childr...

ba0004p197 | (1) | ICCBH2015

Benign osteopetrosis associated with homozygous mutation in CLCN7

Allgrove Jeremy , Mathew Satheesh , Buxton Chris C , Williams Maggie

Introduction: Benign osteopetrosis type 2 (OPTA2) (Albers-Schönberg disease) is usually associated with a heterozygous mutation in CLCN7. Patients may be asymptomatic and present following an x-ray taken for other reasons or with a low trauma fracture. There may be a family history. Homozygous mutations in CLCN7 usually result in severe disease which presents in the neonatal period or early infancy. We present a case of benign osteopetrosis associated wi...

ba0006p135 | (1) | ICCBH2017

Continuous subcutaneous PTH infusion in autosomal dominant hypocalcaemia

Gevers Evelien , Buck Jacqui , Ashman Neil , Thakker Rajesh , Allgrove Jeremy

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 ...

ba0004p48 | (1) | ICCBH2015

Bone mineral density, vertebral compression fractures and pubertal delay in patients with autosomal recessive epidermolysis bullosa

Cheung Moira , Bozorgi Niloofar , Mellerio Jemima , Fewtrell Mary , Allgrove Jeremy , Brain Caroline , Martinez Anna

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...

ba0004p144 | (1) | ICCBH2015

Hypomagnesaemia due to lead poisoning in the context of a heterozygous CLDN-16 mutation

Ramaswamy Priya , Kurre Malathi , Muller Dominik , Dargan Paul , Gevers Evelien , Allgrove Jeremy

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...

ba0004p174 | (1) | ICCBH2015

Case report of reversible cardiomyopathy secondary to 1 alpha hydroxylase deficiency

Cheung Moira , Braha Nirit , Beck-Nielsen Signe , Brain Caroline , Allgrove Jeremy

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...