[Isolated intimal stenosis of the renal artery and curable arterial hypertension in Recklinghausen's disease. Association of hypoplastic stenosis of the aortic and pulmonary trunks and sigmoid aortic regurgitation].

The case of a patient with Von Recklinghausen's disease with multiple localisations, cardiac, aortic, pulmonary and renal artery is reported. Neurofibromatosis was confirmed by the presence of a "royal" tumour on the left elbow and of many "café au lait" spots of over 15 mm diameter. There was no craniofacial dysmorphism or intellectual impairment. The karyotype was normal. The cardiovascular lesions comprised: - stenosis of the left renal artery resulting in renovascular hypertension. This was due to pure intimal hyperplasia; - supravalvular aortic stenosis with hypoplasia of the ascending aorta. There was no craniofacial dysmorphism or intellectual impairment. The karyotype was normal. The cardiovascular lesions comprised: - stenosis of the left renal artery resulting in renovascular hypertension. This was due to pure intimal hyperplasia; - supravalvular aortic stenosis with hypoplasia of the ascending aorta. There was no craniofacial dysmorphism or intellectual impairment. The karyotype was normal. The cardiovascular lesions comprised: - stenosis of the left renal artery resulting in renovascular hypertension. This was due to pure intimal hyperplasia; - supravalvular aortic stenosis with hypoplasia of the ascending aorta, severe aortic regurgitation with dilatation of the aortic ring without rheumatic valvular thickening; - supra valvular pulmonary stenosis which was atypical in site, extension and in the absence of post stenotic dilatation. The pressure gradient was mild (22 mm Hg). There was a striking similarity between the pulmonary and aortic lesions. This new syndrome may be classified amongst the genetic cardiocutaneous syndromes such as the Gorlin or "leopard" syndrome, Watson's syndrome and Noonan's syndrome. Unusual features are the absence of craniofacial abnormalities, normal intelligence, and the left-sided dominance aggravated by hypertension due to curable intimal stenosis of the renal artery.