Neurofibromatosis and sudden death

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Pediatricians are well aware of the cutaneous and skeletal manifestations of neurofibromatosis. There is less awareness that patients with neurofibromatosis may present with vascular abnormalities. These vascular abnormalities may lead to stenosis or aneurysms of the renal arteries leading to a severe secondary form of hypertension. However, neurofibromatosis may affect the aorta or any of its main branches. In this issue of The Journal, Kanter et al report on a 22-month-old who had been noted to have multiple café au lait spots and died suddenly of a ventricular arrhythmia. Autopsy revealed narrowing of the left main and left anterior descending coronary arteries due to vascular neurofibromatosis. This case reminds us that we should consider coronary arteriopathy in patients with neurofibromatosis who present with symptoms such as chest pain or syncope.