Spontaneous rupture of a dissecting aneurysm in the superior rectal artery of a patient with neurofibromatosis type 1: a case report

Journal of Medical Case Reports

Manabu Kirita¹  Masayuki Kanai²  Nao Kurita²  Katsuhiro Makino² 

[1] Department of Emergency Medicine, Kakogawa West City Hospital, Yonedachohiratsu 384-1, Kakogawa-shi, Hyogo 675-8611, Japan;Department of Emergency Medicine, Tokyo Metropolitan Police Hospital, Nakano 4-22-1, Nakano-ku, Tokyo 164-8541, Japan

关键词: Von Recklinghausen’s disease;    Vasculopathy;    Transcatheter arterial embolization;    Neurofibromatosis type 1;   

Others  :  825090
DOI  :  10.1186/1752-1947-7-249

 received in 2013-05-13, accepted in 2013-09-26,  发布年份 2013

【 摘 要 】

Introduction

Neurofibromatosis type 1 is an autosomal dominant disease primarily characterized by cutaneous café au lait spots, benign cutaneous neurofibromas, tumors of the central and peripheral nervous system, multiple skeletal abnormalities, and vascular abnormalities.

Case presentation

Here we describe the case of a 39-year-old Japanese man with neurofibromatosis type 1 complicated by the rupture of a dissecting aneurysm in his superior rectal artery. Our patient presented with temporary loss of consciousness and acute abdominal pain. Hemorrhagic shock and anemia were diagnosed based on a physical examination and laboratory investigations, and rapid infusion of Ringer’s lactate solution was initiated. Contrast-enhanced abdominal computed tomography revealed hemorrhagic ascites with effusion of radiopaque dye into his pelvic cavity. A ruptured aneurysm was suspected in his superior rectal artery and selective angiography of the inferior mesenteric artery confirmed this diagnosis. Transcatheter arterial embolization was successfully performed and our patient was discharged 15 days after admission, with good recovery of his hemoglobin level, and no further hemorrhage or abdominal pain.

Conclusion

This case of spontaneous rupture of a dissecting aneurysm in the peripheral blood supply strongly suggests the involvement of multiple blood vessel abnormalities in neurofibromatosis type 1. Patients with neurofibromatosis type 1 should undergo regular review given their overall health and the risk of fatality in vasculopathy associated with this disease.

【 授权许可】

   
2013 Makino et al.; licensee BioMed Central Ltd.

【 图 表 】

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【 参考文献 】

• [1] : Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol 1988, 45:575-578.
• [2]Oderich GS, Sullivan TM, Bower TC, Gloviczki P, Miller DV, Vuksanovic DB, Macedo TA, Stanson A: Vascular abnormalities in patients with neurofibromatosis syndrome type I: clinical spectrum, management, and results. J Vasc Surg 2007, 46:475-484.
• [3]Falcone JL, Go MR, Baril DT, Oakley GJ, Makaroun MS, Chaer RA: Vascular wall invasion in neurofibromatosis-induced aortic rupture. Vasc Endovasc Surg 2010, 44:52-55.
• [4]Greene JF Jr, Fitzwater JE, Burgess J: Arterial lesions associated with neurofibromatosis. Am J Clin Pathol 1974, 62:481-487.
• [5]Lehrnbecher T, Gassel AM, Rauh V, Kirchner T, Huppertz HI: Neurofibromatosis presenting as a severe systemic vasculopathy. Eur J Pediatr 1994, 153:107-109.
• [6]Salyer WR, Salyer DC: The vascular lesions of neurofibromatosis. Angiology 1974, 25:510-519.
• [7]Friedman JM, Arbiser J, Epstein JA, Gutmann DH, Huot SJ, Lin AE, Mcmanus B, Korf BR: Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force. Genet Med 2002, 4:105-111.
• [8]Hamilton SJ, Friedman JM: Insights into the pathogenesis of neurofibromatosis 1 vasculopathy. Clin Genet 2000, 58:341-344.
• [9]Lin AE, Birch PH, Korf BR, Tenconi R, Niimura M, Poyhonen M, Uhas KA, Sigorini M, Virdis R, Romano C, Bonioli E, Wolkenstein P, Pivnick EK, Lawrence M, Friedman JM: Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. Am J Med Genet 2000, 95:108-117.
• [10]Ahlgren-Beckendorf JA, Maggio WW, Chen F, Kent TA: Neurofibromatosis 1 mRNA expression in blood vessels. Biochem Biophys Res Commun 1993, 197:1019-1024.
• [11]Brannan CI, Perkins AS, Vogel KS, Ratner N, Nordlund ML, Reid SW, Buchberg AW, Jenkins NA, Parada LF, Copeland NG: Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues. Genes Develop 1994, 8:1019-1029.
• [12]Norton KK, Xu J, Gutmann DH: Expression of the neurofibromatosis I gene product, neurofibromin, in blood vessel endothelial cells and smooth muscle. Neurobiol Dis 1995, 2:13-21.