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      Hemorragia digestiva como manifestación de neurofibromatosis tipo I: reporte de un caso Translated title: Gastrointestinal hemorrhage due to neurofibromatosis type 1: a case report

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          Abstract

          RESUMEN Presentamos el caso de un paciente de 40 años con diagnóstico previo de neurofibromatosis y un antecedente crónico de episodios de rectorragias intermitentes que acude al servicio de emergencia por una rectorragia asociada a hipotensión y taquicardia, y es hospitalizado. En los exámenes complementarios se evidencian hemorroides internas de grado 1 que no se correlacionaban con las características clínicas del paciente. Debido a la naturaleza intermitente del cuadro hemorrágico se sospechó de alguna malformación vascular, la cual se confirmó posteriormente mediante una angiografía abdomino-pélvica.

          Translated abstract

          ABSTRACT 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.

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          Most cited references35

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          Guidelines for the diagnosis and management of individuals with neurofibromatosis 1.

          Neurofibromatosis 1 (NF1) is a common neurocutaneous condition with an autosomal dominant pattern of inheritance. The complications are diverse and disease expression varies, even within families. Progress in molecular biology and neuroimaging and the development of mouse models have helped to elucidate the aetiology of NF1 and its clinical manifestations. Furthermore, these advances have raised the prospect of therapeutic intervention for this complex and distressing disease. Members of the United Kingdom Neurofibromatosis Association Clinical Advisory Board collaborated to produce a consensus statement on the current guidelines for diagnosis and management of NF1. The proposals are based on published clinical studies and on the pooled knowledge of experts in neurofibromatosis with experience of providing multidisciplinary clinical and molecular services for NF1 patients. The consensus statement discusses the diagnostic criteria, major differential diagnoses, clinical manifestations and the present strategies for monitoring and management of NF1 complications.
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            Neurofibromatosis type 1.

            Neurofibromatosis type 1 (NF1) is an autosomal dominant, multisystem disorder affecting approximately 1 in 3500 people. Significant advances in the understanding of the pathophysiology of NF1 have been made in the last decade. While no medical therapies for NF1 are currently available, trials are ongoing to discover and test medical treatments for the various manifestations of NF1, primarily plexiform neurofibromas, learning disabilities, and optic pathway gliomas. In addition, mutational analysis has become available on a clinical basis and is useful for diagnostic confirmation in individuals who do not fulfill diagnostic criteria or when a prenatal diagnosis is desired. There are several disorders that may share overlapping features with NF1; in 2007, a disorder with cutaneous findings similar to NF1 was described. This paper addresses the dermatologist's role in diagnosis and management of NF1 and describes the variety of cutaneous and extracutaneous findings in NF1 to which the dermatologist may be exposed. After completing this learning activity, participants should be able to discuss the indications and limitations of genetic testing in neurofibromatosis type 1, distinguish common and uncommon cutaneous findings, and recognize the dermatologist's role in diagnosis and management.
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              Neurofibromatosis: A Review of NF1, NF2, and Schwannomatosis

              The neurofibromatoses are a heterogeneous group of hereditary cancer syndromes that lead to tumors of the central and peripheral nervous systems, as well as other organ systems. By far the most common form is neurofibromatosis 1 (96%), followed by neurofibromatosis 2 (3%), and a more recently recognized, lesser known form, schwannomatosis. The diagnostic criteria, pathogenesis, molecular considerations, and clinical manifestations are discussed in this review article.
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                Author and article information

                Journal
                hm
                Horizonte Médico (Lima)
                Horiz. Med.
                Universidad de San Martín de Porres. Facultad de Medicina Humana (Lima, , Peru )
                1727-558X
                October 2020
                : 20
                : 4
                : e1412
                Affiliations
                [2] Trujillo La Libertad orgnameUniversidad Privada Antenor Orrego Peru
                [3] Trujillo orgnameHospital Víctor Lazarte Echegaray Perú
                [1] Trujillo orgnameUniversidad Nacional de Trujillo Peru
                Article
                S1727-558X2020000400012 S1727-558X(20)02000400012
                10.24265/horizmed.2020.v20n4.12
                ae07218d-b520-42a3-becf-f91a721eee62

                This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

                History
                : 06 June 2020
                : 31 July 2020
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 35, Pages: 0
                Product

                SciELO Peru

                Categories
                Caso clínico

                Neurofibromatosis type 1,Hemorragia gastrointestinal,Malformaciones vasculares,Neurofibromatosis 1,Gastrointestinal hemorrhage,Vascular malformation

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