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      Life-threatening gastrointestinal bleeding in a case of neurofibromatosis 1 and gastrointestinal stromal tumour managed with surgical intervention as a case report

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          Abstract

          A 63-year-old patient with skin neurofibromas since birth was brought to emergency in a critical state due to massive bleeding per rectum. After stabilization and massive transfusion, the patient underwent Gastro-Intestinal (GI) endoscopy and abdominal computed tomography. A mass was identified in the jejunum. On laparotomy, multiple neurofibromas were seen in the jejunum. The segment with bleeding tumour was resected. Histopathology revealed benign spindle cell neoplasm, a gastrointestinal stromal tumour. The patient recovered and was discharged on day 15.

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          Mosaic Neurofibromatosis Type 1: A Systematic Review.

          Maria Teresa García-Romero, Patricia C. Parkin, Irene Lara-Corrales (2024)
          Confusion is widespread regarding segmental or mosaic neurofibromatosis type 1 (MNF1). Physicians should use the same terms and be aware of its comorbidities and risks. The objective of the current study was to identify and synthesize data for cases of MNF1 published from 1977 to 2012 to better understand its significance and associations. After a literature search in PubMed, we reviewed all available relevant articles and abstracted and synthetized the relevant clinical data about manifestations, associated findings, family history and genetic testing. We identified 111 articles reporting 320 individuals. Most had pigmentary changes or neurofibromas only. Individuals with pigmentary changes alone were identified at a younger age. Seventy-six percent had localized MNF1 restricted to one segment; the remainder had generalized MNF1. Of 157 case reports, 29% had complications associated with NF1. In one large case series, 6.5% had offspring with complete NF1. The terms "segmental" and "type V" neurofibromatosis should be abandoned, and the correct term, mosaic NF1 (MNF1), should be used. All individuals with suspected MNF1 should have a complete physical examination, genetic testing of blood and skin, counseling, and health surveillance.
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            Spectrum of gastrointestinal lesions of neurofibromatosis type 1: a pictorial review

            Nada Garrouche, Amel Ben Abdallah, Nadia Arifa … (2018)
            Abstract Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders. Gastrointestinal manifestations of NF-1 are seldom thought of in routine clinical practice and might thus be significantly under-recognised. Their heterogeneous spectrum ranges from localised microscopic proliferative lesions to grossly recognizable mass-forming neurofibromas, neuroendocrine and gastrointestinal stromal tumours (GIST). The aim of this study is discussing the imaging evaluation and characterisation of the abdomen lesions in patients with NF1. Teaching Points • Neurofibromatosis type (NF-1) is one of the most common single gene disorders. • Every organ system can be involved and intra-abdominal manifestations are underestimated. • The NF1 abdominal manifestations comprehend five categories of tumours. • Neurogenic tumours including with neurofibromas are the most common type. • Early diagnosis of abdominal manifestations of NF-1 based on imaging patterns is necessary for appropriate treatment to avoid serious organic complications related to tumour mass.
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              Gastrointestinal complications of von Recklinghausen's disease: two case reports and a review of the literature.

              O Dukhno, I Pinsk, A Ovnat … (2003)
              There are few reports of the association between neurofibromatosis (von Recklinghausen's disease) and large, solid stromal tumours of the gastrointestinal tract. The prevalence of gastrointestinal involvement in von Recklinghausen's disease has been estimated at 11%-25%. Some associated gastrointestinal stromal tumours present clinically as bowel obstruction, perforation or gastrointestinal bleeding. We recently treated two patients with this condition who presented with gastrointestinal bleeding and were diagnosed with gastrointestinal stromal tumours. We report the unique aspects of these cases and discuss the diagnostic and management problems that are posed by this unusual association.
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                Author and article information

                Journal
                Journal ID (nlm-ta): SAGE Open Med Case Rep
                Journal ID (iso-abbrev): SAGE Open Med Case Rep
                Journal ID (publisher-id): SCO
                Journal ID (hwp): spsco
                Title: SAGE Open Medical Case Reports
                Publisher: SAGE Publications (Sage UK: London, England )
                ISSN (Electronic): 2050-313X
                Publication date (Electronic): 17 May 2024
                Publication date Collection: 2024
                Volume: 12
                Electronic Location Identifier: 2050313X241255238
                Affiliations
                [1-2050313X241255238]Dr. D.Y. Patil Medical College and Hospital, Dr. D.Y. Patil Vidyapeeth, Pimpri, Pune, India
                Author notes
                [*]Varun Lingineni, Dr. D.Y. Patil Medical College and Hospital, Dr. D.Y. Patil Vidyapeeth, Sant Tukaram Nagar, Pimpri 411018, Pune, India. Email: varunbhaskar004@ 123456gmail.com
                Author information
                https://orcid.org/0009-0005-7438-5390
                Article
                Publisher ID: 10.1177_2050313X241255238
                DOI: 10.1177/2050313X241255238
                PMC ID: 11102664
                PubMed ID: 38764917
                SO-VID: 52d0c809-56a5-4482-8401-558937cfd7fe
                Copyright © © The Author(s) 2024
                License:

                This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License ( https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages ( https://us.sagepub.com/en-us/nam/open-access-at-sage).

                History
                Date received : 31 July 2023
                Date accepted : 26 April 2024
                Categories
                Subject: Case Report
                Custom metadata
                cover-date January-December 2024
                typesetter ts1

                Keywords: neurofibroma,endoscopy,jejunum,gist
                Data availability:
                Keywords: neurofibroma, endoscopy, jejunum, gist

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