Gastrointestinal hemorrhage due to neurofibromatosis type 1: A case report
DOI:
https://doi.org/10.24265/horizmed.2020.v20n4.12Keywords:
Neurofibromatosis type 1, Vascular malformation, Gastrointestinal hemorrhageAbstract
We present the case of a 40-year-old male with a previous diagnosis of neurofibromatosis and a chronic history of intermittent rectal bleeding episodes. He visited the emergency service for frequent rectal bleeding associated with hypotension and tachycardia, and was hospitalized. Complementary tests evidenced grade 1 internal hemorrhoids not associated with the clinical features of the patient. Due to the intermittent nature of the bleeding, a vascular malformation was suspected, which was subsequently confirmed by a pelvic and abdominal angiography.
Downloads
References
Orraca M, Morejón G, Cabrera N, Menéndez R, Orraca O. Neurofibromatosis 1: prevalence in children aged 9–11 years, Pinar del Río Province, Cuba. MEDICC Rev. 2014; 16(3): 5.
Duque Serna FL, Ramírez Usuga OA. Neurofibromatosis: reporte de un caso. Rev Facultad Odontología Universidad de Antioquía. 2010; 21(2): 218-25.
Pascual Castroviejo I, Fundación ONCE. Neurofibromatosis. Madrid: Escuela Libre: Fundación ONCE; 2001.
Kresak JL, Walsh M. Neurofibromatosis: a review of NF1, NF2, and schwannomatosis. J Pediatr Genet. 2016; 5(2): 98-104.
Gottfried ON, Viskochil DH, Couldwell WT. Neurofibromatosis Type 1 and tumorigenesis: molecular mechanisms and therapeutic implications. Neurosurg Focus. 2010; 28(1): E8.
Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet. 2007; 44(2): 81-8.
Agaimy A, Vassos N, Croner RS. Gastrointestinal manifestations of neurofibromatosis type 1 (Recklinghausen' disease): clinicophatological spectrum with pathogenetic considerations. Int J Clin Exp Pathol. 2012; 5(9): 852-62.
Basile U, Cavallaro G, Polistena A, Giustini S, Orlando G, Cotesta D, et al. Gastrointestinal and retroperitoneal manifestations of type 1 neurofibromatosis. J Gastrointest Surg. 2010; 14(1): 186-94.
Rastogi R. Intra-abdominal manifestations of von recklinghausen’s neurofibromatosis. Saudi J Gastroenterol. 2008; 14(2): 80-2.
Carter JE, Laurini JA. Isolated intestinal neurofibromatous proliferations in the absence of associated systemic syndromes. World J Gastroenterol. 2008; 14(42): 6569.
Jadraque Rodríguez R, Martínez Salio A, García de Álvaro MT, Porta Etessam J, Torres Mohedas J, Mateos Beato F. Malformación arteriovenosa en la neurofibromatosis tipo I. Caso clínico y revisión de la literatura. Rev Neurol. 2000; 31(11): 1043.
Palazzuoli A, Pellegrini M, Ruocco G, Nuti R. A multidisciplinary approach in neurofibromatosis 1. Lancet Neurol. 2015; 14(1): 29.
Morello F, Shah P, Dowling K, Siskin G. A hemorrhagic complication of neurofibromatosis. J Vasc Interv Radiol. 2001; 12(6): 773-4.
Boyd KP, Korf BR, Theos A. Neurofibromatosis type 1. J Am Acad Dermatol. 2009; 61(1): 1-14.
Navarro EG, Martínez MB, Gómez EG. Protocolo de seguimiento de la neurofibromatosis tipo 1. Protoc Diagn Ter Ped Pediatr. 2010; 1: 44-50
Ali SR, Hendrickson SA, Collin G, Oxley J, Warr RP. Solitary neurofibroma of the face masquerading as a low-flow vascular malformation – case report and experience of management. JPRAS Open. 2019; 19: 67-72.
Abbas Z, Khani S, Zare J. Arteriovenous malformation underlying a plexiform neurofibroma: an unusual presentation. Indian Dermatol Online J. 2017; 8(2): 128.
Han M, Criado E. Renal artery stenosis and aneurysms associated with neurofibromatosis. J Vasc Surg. 2005; 41(3): 539-43.
Chew DKW, Muto PM, Gordon JK, Straceski AJ, Donaldson MC. Spontaneous aortic dissection and rupture in a patient with neurofibromatosis. J Vasc Surg. 2001; 34(2): 364-6.
Díaz CA, et al. Vasculopatía cerebral en neurofibromatosis tipo I. Rev Mex Neuroci. 2010; 11(6): 487-92.
Morvan T, de Broucker F, de Broucker T. Subarachnoid hemorrhage in neurofibromatosis type 1: case report of extracranial cerebral aneurysm rupture into a meningocele. J Neuroradiol. 2011; 38(2): 125-8.
Sareli AE, Marshall DS. A devastating complication of type 1 neurofibromatosis. Am J Respir Crit Care Med. 2012; 185(9): e12-3.
Molina-Martin de Nicolas J, Jurado Roman A, Rubio Alonso B, Garcia Tejada J. Recurrent myocardial infarctions due to thrombosis of a coronary aneurysm in neurofibromatosis type 1. JACC Cardiovasc Interv. 2015; 8(4): e55-7.
Lu J, Liu H, Zhang L, Ma L, Zhou H. Corkscrew retinal vessels and retinal arterial macroaneurysm in a patient with neurofibromatosis type 1: a case report. Medicine (Baltimore). 2018; 97(30): e11497.
Gao P, Chen Y, Zhang H, Zhang P, Ling F. Vertebral arteriovenous fistulae (avf) in neurofibromatosis type 1: a report of 2 cases. Turk Neurosurg. 2013; 23(2): 289-93.
Sangolli P. Neurofibromatosis-1 with bilateral partial radial artery stenosis. Indian Dermatol Online J. 2012; 3(1): 51.
Kitano D, Harasawa K, Saruya T, Tochihara T. Multiple cardiovascular stenoses in a 66-year-old woman with neurofibromatosis type 1: virtual-histology intravascular ultrasound findings. Eur Heart J Case Rep. 2018; 2(1): yty015.
Jiménez-Gil R, Arroyo-Bielsa A, Barrio-Rodríguez C, ÁlvarezSalgado A, Carmona-Berriguete S, Montero-Mendizábal R, et al. Lesiones
vasculares múltiples y precoces en la neurofibromatosis. Descripción de un caso clínico y revisión bibliográfica. Angiología. 2002; 54(3): 259-64.
Gu B, Kwon S. Spontaneous hemothorax secondary to ruptured right subclavian artery from neurofibromatosis tumor. Chest. 2015; 148(4): 36.
NetMD. Hemotórax masivo espontáneo en paciente con neurofibromatosis tipo 1 [Internet]. 2020. Disponible en: https://netmd.org/medicina-intensiva/medicina-intensivaarticulos/hemotorax-masivo-espontaneo-en-paciente-conneurofibromatosis-tipo-1
Terry AR, Jordan JT, Schwamm L, Plotkin SR. Increased risk of cerebrovascular disease among patients with neurofibromatosis type 1: population-based approach. Stroke. 2016; 47(1): 60-5.
Lazea C, Asavoaie C, Alkhzouz C, Popa L. Rare complications of neurofibromatosis 1 diagnosed incidentally in two children. Ther Clin Risk Manag. 2018; 14: 1547-52.
Rodrigues LO, Rodrigues LOC, Castro LL, Rezende NA, Ribeiro ALP. Non-invasive endothelial function assessment in patients with neurofibromatosis type 1: a cross-sectional study. BMC Cardiovasc Disord. 2013; 13(1): 18.
Hamilton S, Friedman J. Insights into the pathogenesis of neurofibromatosis 1 vasculopathy: pathogenesis of NF1 vasculopathy. Clin Genet. 2001; 58(5): 341-4.
Quiroga S, Pérez M, Abu-Suboh M, Castell J. Hemorragia digestiva: papel de la radiología. Radiología. 2011; 53(5): 406-20.
Published
How to Cite
Issue
Section
License
Copyright (c) 2020 Horizonte Médico (Lima)

This work is licensed under a Creative Commons Attribution 4.0 International License.
Horizonte Médico (Lima) (Horiz. Med.) journal’s research outputs are published free of charge and are freely available to download under the open access model, aimed at disseminating works and experiences developed in biomedical and public health areas, both nationally and internationally, and promoting research in the different fields of human medicine. All manuscripts accepted and published in the journal are distributed free of charge under the terms of a Creative Commons license – Attribution 4.0 International (CC BY 4.0).