The failure of embryonic vascular arches to fuse and regress in the usual manner during the formation of the aortic arch, pulmonary arteries and ductus arteriosus can cause a wide spectrum of vascular congenital abnormalities of the aortic arch and its branches. These abnormal vascular structures may cause variable compression of the trachea and/or oesophagus with symptoms ranging from none to severe stridor, dyspnoea, dysphagia and cyanosis. Diagnosis and possible treatment of affected patients require multiple imaging modalities. In the majority of cases, the underlying malformation can be detected by chest radiography and barium oesophagography, visualizing the location of the aortic arch and the presence of anomalous compressions of the trachea and/or oesophagus. However, in most cases the exact configuration of the vascular abnormality cannot be fully defined with conventional radiology alone. MRI is fundamental for evaluation of the thoracic vessels. Not only is it non-invasive, but it can also provide large-field-of-view images in any number of planes with three-dimensional reconstruction, adding valuable information about exact vascular configuration, tracheobronchial compression and brachiocephalic vessel branching. The aim of this review is to describe the imaging findings in children affected with special emphasis on MRI.
Two young children with renal artery stenosis and severe hypertension who presented with the so-called hyponatremic-hypertensive syndrome (HHS), with marked urine and solute loss during the acute phase, are described. Both children also presented with severe high molecular proteinuria, glycosuria, and hypercalciuria, only the first symptom having prompt remission after normalization of blood pressure. In children with renal artery stenosis, HHS is associated with severe proteinuria due to hyperfiltration and more extensive tubular functional alterations. Hyponatremia and acute tubulopathy may mask the presenting clinical picture of renal artery stenosis.
Neonatal hemochromatosis is a rare congenital disorder which affects both fetuses and newborns. It is characterized by hepatocellular failure, often appearing on the first day of life in the form of coagulopathy, hypoalbuminemia, hypoglycemia, and jaundice. Most of the affected infants die early in life, and definitive diagnosis has often been made only by post-mortem evaluation. With the help of MRI, plus increasing awareness of the disorder, diagnosis is now often made early, even in utero. Duplex Doppler sonography does not provide information on siderosis but shows abnormalities in the liver or blood-flow patterns associated with liver disease.
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