Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene.

Osteogenesis imperfecta is a rare connective tissue disorder characterized by bone fragility and low bone density. Most cases are caused by an autosomal dominant mutation in either COL1A1 or COL1A2 gene encoding type I collagen. However, autosomal recessive forms have been identified. We present a patient with severe respiratory distress due to osteogenesis imperfecta simulating type II, born to a non-consanguineous couple with mixed African-American and African-Hispanic ethnicity. Cultured skin fibroblasts demonstrated compound heterozygosity for mutations in the LEPRE1 gene encoding prolyl 3-hydroxylase 1 confirming the diagnosis of autosomal recessive osteogenesis imperfecta type VIII, perinatal lethal type.

Transplacental passage of non-ionic contrast agents resulting in fetal bowel opacification: a mimic of pneumoperitoneum in the newborn.

Although animal studies suggest that non-ionic radiological contrast agents do not cross the placenta, case reports have documented transplacental passage of the non-ionic monomers iohexol and iopromide in humans. We report a case of presumed transplacental passage of the non-ionic monomer ioversol resulting in fetal bowel opacification and mimicking pneumoperitoneum.

Imaging of osteomyelitis with special reference to children.

Infection of bone in children represents a diagnostic and therapeutic challenge to the pediatrician, the surgeon, the radiologist, and the pathologist. The pattern of manifestation varies and is dependent on the site of involvement, the initiating event, the infecting organism, and the acute or chronic nature of the illness. Early diagnosis allows prompt treatment, which can prevent many of the dreaded complications of this disease. Plain radiographs remain the initial imaging modality used in the diagnosis and differential diagnosis of osteomyelitis. However, with the advent of newer imaging techniques such as scintigraphy, ultrasonography, computed tomography, and magnetic resonance imaging, a higher degree of accuracy in diagnosis and definition of the extent of the disease has been achieved. The time interval between the onset of symptoms and diagnosis has also been significantly reduced. Although magnetic resonance imaging has the additional advantage of multiplanar capability, greater anatomic detail, and excellent soft tissue resolution, it is a relatively expensive technique, which somewhat limits its use. Following a brief review of the classification and pathophysiology of osteomyelitis, we have tried to elucidate the utility of various imaging modalities in the diagnosis of osteomyelitis in children, outlining their relative strengths and weaknesses. Certain entities specific to children and a brief review of differential diagnosis are also presented.

Urethral duplication with posterior urethral valves in each moeity.

A unique case of urethral duplication with posterior urethral valves in each of the moieties causing urinary tract obstruction is presented. The patient also had a horseshoe kidney.