Bone Abstracts

Background: Osteogenesis imperfecta (OI) is a clinically heterogenous heritable connective tissue disorder with increased bone fragility. Intravenous bisphosphonate therapy is the most widely used medical approach. This treatment leads to an increase of the bone mineral density and reduces the fracture rate.Presenting problem: We present our experience with five OI patients (one female, four males) between 2005 and 2016 who had bone fractures either in u...

Background: Duchenne muscular dystrophy (DMD) is characterised by progressive muscle weakness leading to loss of mobility, cardiomyopathy, and respiratory insufficiency. Typical initial manifestation in boys (X-linked disorder) comprises proximal muscle weakness and calf hypertrophy. Osteogenesis imperfecta (OI) is a clinically heterogenous heritable connective tissue disorder with increased bone fragility. Fractures rise from little or no apparent trauma.<p class="abstext...

Background: Recurrent abdominal pain is common in children and adolescents. This symptom could be raised by the complex of both functional and organic etiologies.Presenting problem: We put forward a seventeen-years-old adolescent girl with personal history of repeated abdominal pain and urinary tract infections. Her family history was negative.Clinical management: Our patient was admitted to hospital due to recurrent abdominal pain...

Background: Idiopathic infantile hypercalcemia (IIH) is a rare disorder caused by CYP24A1 loss-of-function mutation, resulting in impaired degradation of 1,25-dihydroxyvitamin D3. Typical signs include muscle hypotonia, dehydration, failure to thrive, psychomotor retardation, constipation, nephrocalcinosis. IIH should be distinguished from other causes of hypercalcemia in infancy. Treatment includes low calcium diet, glucocorticoids, furosemide, calcitonin. Pamidron...