Hereditary haemorrhagic telangiectasia.

摘要

A nine-year-old boy presented with headache and two episodes of seizures in the previous 15 days. He had a history of mild recurrent epistaxes for the past 6 months. On examination, he was found to have telangiectases of the lips and buccal mucosa, but no other abnormality wasfound. Contrast-enhanced computed tomography (CT) of the brain (Fig. 1) showed arteriovenous malformations (AVM) in the region of brainstem and both thalami. Based on these findings, a diagnosis of hereditary haemorrhagic telangiectasia (HHT) was made. Screening CT of the thorax (Fig. 2) showed an AVM in the right lung. Triple-phase CT of the abdomen (Fig. 3) showed evidence of arterioportal and arteriosystemic shunts with multiple perfusion alterations (the transient hepatic parenchymal enhancement phenomenon) during the arterial phase. Coronal reformatted CT image also depicted the pulmonary and hepatic changes (Fig. 4).