Multiple coronary artery aneurysms in a child with neurofibromatosis type 1

A number of frequently unrecognised vascular manifestations have been descr ibed in patients with neurofibromatosis type 1 (NF1), including involvement of the great vessels, cerebral, visceral and renal arteries. Rarely, chang es in the coronary arteries have been reported in adults with NF1. We repor t on a 16-year-old boy affected by NF1 with dysmorphic features and three a neurysms in the mid-portion of the left descending corollary artery disclos ed by chance during investigation for a malignant peripheral nerve sheath t umour. Molecular analysis detected a gross de novo deletion in the NF1 gene . The boy had had no previous cardiac symptoms but died suddenly after deve loping signs and symptoms suggestive of myocardia! infarction. Conclusion To the best of our knowledge, this represents the first report o f multiple lesions in the coronary arteries in a child affected by neurofib romatosis type I with a known deletion of the neurofibromatosis type 1 gene .