caa a22 4500 475784715 CHVBK 20180406123654.0 cr unu---uuuuu 170329e20000601xx s 000 0 eng 10.1007/s004310051313 doi (NATIONALLICENCE)springer-10.1007/s004310051313 Multiple coronary artery aneurysms in a child with neurofibromatosis type 1 [Elektronische Daten] [Martino Ruggieri, Giuseppe D'Arrigo, Mauro Abbate, Angela Distefano, Meena Upadhyaya] 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. Conclusion 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. Springer-Verlag Berlin Heidelberg, 2000 Key words Neurofibromatosis type 1 nationallicence Coronary artery nationallicence Aneurysm nationallicence Vasculopathy nationallicence Childhood nationallicence Ruggieri Martino Division of Paediatric Neurology, Department of Paediatrics, University of Catania, Via S. Sofia 78, 95125, Catania, Italy e-mail: rupo@ctonline.it Tel.: +39-095-256409; Fax: +39-095-222532, IT aut D'Arrigo Giuseppe Department of Cardiothoracic Surgery, University of Catania, Italy, IT aut Abbate Mauro Department of Cardiothoracic Surgery, University of Catania, Italy, IT aut Distefano Angela IBFSNC, CNR, Catania, Italy, IT aut Upadhyaya Meena Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK, GB aut https://doi.org/10.1007/s004310051313 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s004310051313 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Ruggieri Martino Division of Paediatric Neurology, Department of Paediatrics, University of Catania, Via S. Sofia 78, 95125, Catania, Italy e-mail: rupo@ctonline.it Tel.: +39-095-256409; Fax: +39-095-222532, IT aut NATIONALLICENCE 700 1- D'Arrigo Giuseppe Department of Cardiothoracic Surgery, University of Catania, Italy, IT aut NATIONALLICENCE 700 1- Abbate Mauro Department of Cardiothoracic Surgery, University of Catania, Italy, IT aut NATIONALLICENCE 700 1- Distefano Angela IBFSNC, CNR, Catania, Italy, IT aut NATIONALLICENCE 700 1- Upadhyaya Meena Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK, GB aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer