Abstract
Neurofibromatosis Type 1 (NF1) is an autosomal dominant disorder affecting 1/ 3000 individuals and caused by Single Nucleotide Variants (SNVs), deletions and duplications affecting the NF1 gene. Vascular lesions of medium and large size arteries and veins are a well recognized, albeit rare, manifestation of NF1. We report an adult patient retrospectively diagnosed (clinically and molecularly) with NF1 after surgery for a ruptured abdominal aortic aneurysm and renal failure. The 37 year old female patient was admitted for emergency surgery due to a ruptured abdominal aortic aneurysm, renovascular hypertension and renal failure. The other clinical manifestations of NF1 included multiple café-au-lait macules, axillary fleckling, multiple cutaneous neurofibromas, and an external vaginal plexiform neurofibroma. Genomic DNA from peripheral blood was analyzed by Next Generation Sequencing (NGS) and Chromosomal Microarray Analysis (CMA). NGS did not reveal a pathological SNV for the NF1 gene but the CMA revealed a novel duplication covering exons 19-27. To our knowledge, very few cases with partial NF1 gene duplications have been reported so far. In addition, our patient presented also an abdominal aortic aneurysm. The rare presentation of cases with NF1 vasculopathy could be due to an underappreciation of its recurrence.
Citation
Tsipi M, Koutsias S, Mitrakos A, Mourmoura E, Gianoukas Α, Tsezou A and Tzetis M. Rupture of Abdominal Aortic Aneurysm and Renal Failure in an Adult Patient with NF1 Micro duplication. SM J Case Rep. 2019; 5(1): 1090.