Bone Abstracts

Background: Meningococcal septicaemia in childhood has a high mortality rate in the acute stage, often requiring intensive care support. Survivors are well known to have long-term sequelae in the form of neuropathy, renal scarring, loss of limbs and necrotic tissue damage. We describe here a case where a survivor of this disease developed growth plate arrest and consequent severe bowing of both tibias which now require surgical correction. Relevant literature is also reviewed....

Introduction: Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis is a rare autosomal recessive renal tubular disease caused by mutations in Claudin 16 and 19 genes, often complicated by progressive renal failure. We describe the clinical and genetic features and management of this condition in three patients at our centre.Case 1: A 3-year-old south Asian boy with consanguinity presented with hypocalcemic seizures. Investigations revealed h...

Objectives: Metabolic bone disease of prematurity (MBDP) is a multi-factorial condition characterised by a deficiency of calcium (Ca) and phosphate (PO4) mineral for incorporation into the organic bone matrix. Given the lack of clear guidelines, we conducted a survey across the United Kingdom of current practices, inviting both neonatologists and paediatric metabolic bone disease specialists (PMBS).Methods: A web-based questionnaire survey was disseminat...

Background: Hyperphosphatasia may be seen in liver disorders or metabolic bone disease with the most common cause likely to be Vitamin D deficiency. However, we report the case of child who had high ALP levels from infancy along with intellectual retardation. Genetic testing revealed Mabry Syndrome.Presenting problem: At birth, a micrognanthia and a cleft palate was apparent. She went to have developmental delay, impaired vision, and was wheelchair depen...

Trabecular bone score (TBS) extracts a texture parameter from pixel grey-level variations in DXA lumbar spine images. The TBS is claimed to be a measure of trabecular structure and was validated in an in-vitro study of vertebral bodies with micro-CT1. TBS has shown the potential for fracture pre-diction in adults2. However, data are sparse regarding the reliability and usefulness of TBS3 and the method has not previously been applied i...

Background: Syphilis remains a great imitator of myriad of clinical diagnosis. Congenital syphilis, though still uncommon, is on the rise once again. Recognition of syphilitic bone disease and its potential impact on growth is important for long term prognosis. We describe our experience of managing a child with congenital syphilis and multisite osteolytic lesions.Presenting problem: A 6 week-old girl presented with a swollen and painful elbow with reduc...

Background: Anorexia nervosa (AN) presenting in childhood can have devastating implications for growth, puberty, menstruation and bone health. It may lead to altered bone structure and inadequate acquisition of bone mass with increased risk of fracture.Objective: To describe growth, pubertal and bone mineral density data in a cohort of adolescents with AN managed in a tertiary metabolic bone service.Methods: 62 adolescent females w...

Background: Cerebral Palsy (CP) is the most common physically disabling childhood motor disorder. Fractures in this group of children are common, however, prevalence and risk factors associated with fractures in children with CP in the UK is not known.Aims: The aims of this cross-sectional survey were 1) to determine the prevalence of fractures in children with moderate-to-severe CP in Greater Manchester 2) to determine the common sites of fracture and 3...

Background: Familial hypocalciuric hypercalcaemia type 3 (FHH3) is a genetically heterogenous autosomal dominant disorder caused by loss-of-function mutations in the AP2S1 gene. This gene encodes the alpha-2 subunit of the adaptor protein-2 complex, which facilitates endocytosis of plasma membrane constituents such as G-protein coupled receptors.Objective: It has been suggested that FHH3 may be associated with cognitive deficits (1). We assessed...

Objectives: X-linked hypophosphataemia (XLH) is a rare, inherited, genetic disease characterised by renal phosphate wasting, bone mineralisation defects, rickets, abnormal tooth development, poor growth and, often, bone pain. Common treatment of children involves supplementation with oral phosphate and active vitamin D (often termed ‘conventional therapy’). The objective of this study was to identify and understand the perceived limitations of conventional therapy fo...