Bone Abstracts

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: 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...