Multiple coronary artery aneurysms in a child with neurofibromatosis type 1.
A number of frequently unrecognised vascular manifestations have been described in patients with neurofibromatosis type 1 (NF1), including involvement of the great vessels, cerebral, visceral and renal arteries. Rarely, changes in the coronary arteries have been reported in adults with NF1. We report on a 16-year-old boy affected by NF1 with dysmorphic features and three aneurysms in the mid-portion of the left descending coronary artery disclosed by chance during investigation for a malignant peripheral nerve sheath tumour. Molecular analysis detected a gross de novo deletion in the NF1 gene. The boy had had no previous cardiac symptoms but died suddenly after developing signs and symptoms suggestive of myocardial infarction.


CONCLUSIONS
To the best of our knowledge, this represents the first report of multiple lesions in the coronary arteries in a child affected by neurofibromatosis type 1 with a known deletion of the neurofibromatosis type 1 gene.
Department of Paediatrics, University of Catania, Italy. rupo@ctonline.it
M
M
Ruggieri
G
G
D'Arrigo
M
M
Abbate
A
A
Distefano
M
M
Upadhyaya
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002872:Chromosome Deletion; D003323:Coronary Aneurysm / Q000235:genetics*; D016757:Death, Sudden, Cardiac / Q000209:etiology; D016514:Genes, Neurofibromatosis 1 / Q000235:genetics*; D006801:Humans; D008297:Male; D009456:Neurofibromatosis 1 / Q000235:genetics*; D012307:Risk Factors