Abstract
A 6-year-9-month-old girl with Turner syndrome who suffered from fibromuscular dysplasia and renal hypertension was reported. She was born at 38 weeks' gestation, and weighed 2, 845 g. Her developmental milestones were mildly delayed. At the age of 6 years she was attacked by sudden paresis of right extremities. The CT scan on the 5 day revealed low density at the anterolateral region of the left cerebral hemisphere, and EEG showed focal low voltage at the same region. Left internal carotid artery showed alternating zones of widening and narrowing of the arterial lumen (string of beads). There was stenosis at a branch of the left middle cerebral artery. The left renal artery had two branches and showed marked narrowing at the beginning. Aortic stenosis was also recognized. The characteristic face and multiple anomalies were pointed out, and the diagnosis of mosaic Turner syndrome (45, X/47, XXX) was established by the chromosomal analysis. From angiographic findings, the authors concluded that the symptoms and signs of this patient were originally caused by the systemic disease of arteries, “fibromuscular dysplasia”.
