• Metabolic
• Vascular Disease

A 13-year-old boy with mild learning difficulties presented to his district general hospital after an unwitnessed episode of collapse with vomiting but no loss of consciousness. He had 3 days of lethargy and intermittent occipital headaches waking him from sleep. Two days later, after another ‘funny turn’, he represented with right-side paraesthesia, weakness and word-finding difficulty.

He had three previous ‘collapses’ over the last 6 months, including symptoms of transient dizziness, slurred speech, dribbling, difficulty swallowing and left-facial paraesthesia from which he had recovered completely each time.

In his previous medical history, he was treated for unexplained hypertension and an echocardiogram demonstrated aortic regurgitation, bicuspid aortic valve and dilation of the ascending aorta. On examination, his arm span:height ratio was 1.08 and arachnodactyly was noted together with pectus excavatum, scoliosis and right-sided ectopia lentis.