A case report of a 4-year-old girl with neurofibromatosis type 1
Neurofibromatosis type 1 is a rare genetic disorder, which is a benign nerve tumor resulting from aberrant growth of the cells of nerve sheath. NF1 patients were associated with multisystem involvement, characterized by neurofibroma, of which 50% were associated with plexus neurofibroma. Characteris...
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| Format: | Article |
| Language: | English |
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Elsevier
2022-01-01
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| Series: | Cancer Treatment and Research Communications |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2468294222000727 |
| _version_ | 1811281364251574272 |
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| author | Mengying Peng Yuqing Zhang Qiong Zhou |
| author_facet | Mengying Peng Yuqing Zhang Qiong Zhou |
| author_sort | Mengying Peng |
| collection | DOAJ |
| description | Neurofibromatosis type 1 is a rare genetic disorder, which is a benign nerve tumor resulting from aberrant growth of the cells of nerve sheath. NF1 patients were associated with multisystem involvement, characterized by neurofibroma, of which 50% were associated with plexus neurofibroma. Characteristically benign plexiform neurofibromas can cause pain, disfigurement, compression and functional changes. Although plexiform neurofibroma is common in the head and neck, the orbital plexiform neurofibroma is rare and easily confused with other orbital tumors. There is no consensus with regard to the treatment strategy of plexiform neurofibromas, current treatment has remained largely surgical, but comes with a high recurrence rate after partial removal. We describe a case of a 4-year-old patient with orbital plexiform neurofibroma who has a 3-year history of ptosis in the right eye. At the begining, we misdiagnosed it as hemangioma. After surgical resection, it was confirmed as plexiform neurofibroma by histopathological examination. One year after surgery, the tumor recurred, so surgical resection was performed again, and the ptosis was corrected. After that, the patients were followed up and examined annually, and no recurrence was found so far. This case shows that an infant or a child present with unilateral eye swelling and ptosis of the upper eyelid should be evaluated for orbital neurofibroma. |
| first_indexed | 2024-04-13T01:31:07Z |
| format | Article |
| id | doaj.art-9460c253403a41bda9dfd9275c4a117d |
| institution | Directory Open Access Journal |
| issn | 2468-2942 |
| language | English |
| last_indexed | 2024-04-13T01:31:07Z |
| publishDate | 2022-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Cancer Treatment and Research Communications |
| spelling | doaj.art-9460c253403a41bda9dfd9275c4a117d2022-12-22T03:08:30ZengElsevierCancer Treatment and Research Communications2468-29422022-01-0132100582A case report of a 4-year-old girl with neurofibromatosis type 1Mengying Peng0Yuqing Zhang1Qiong Zhou2Department of Ophthalmology, The First Affiliated Hospital of Nanchang University, Jiangxi Province Ocular Disease Clinical Research Center, No 17, YongWaiZheng Street, DongHu District, Nanchang, Jiangxi, 330006, PR ChinaDepartment of Ophthalmology, The First Affiliated Hospital of Nanchang University, Jiangxi Province Ocular Disease Clinical Research Center, No 17, YongWaiZheng Street, DongHu District, Nanchang, Jiangxi, 330006, PR ChinaCorresponding author.; Department of Ophthalmology, The First Affiliated Hospital of Nanchang University, Jiangxi Province Ocular Disease Clinical Research Center, No 17, YongWaiZheng Street, DongHu District, Nanchang, Jiangxi, 330006, PR ChinaNeurofibromatosis type 1 is a rare genetic disorder, which is a benign nerve tumor resulting from aberrant growth of the cells of nerve sheath. NF1 patients were associated with multisystem involvement, characterized by neurofibroma, of which 50% were associated with plexus neurofibroma. Characteristically benign plexiform neurofibromas can cause pain, disfigurement, compression and functional changes. Although plexiform neurofibroma is common in the head and neck, the orbital plexiform neurofibroma is rare and easily confused with other orbital tumors. There is no consensus with regard to the treatment strategy of plexiform neurofibromas, current treatment has remained largely surgical, but comes with a high recurrence rate after partial removal. We describe a case of a 4-year-old patient with orbital plexiform neurofibroma who has a 3-year history of ptosis in the right eye. At the begining, we misdiagnosed it as hemangioma. After surgical resection, it was confirmed as plexiform neurofibroma by histopathological examination. One year after surgery, the tumor recurred, so surgical resection was performed again, and the ptosis was corrected. After that, the patients were followed up and examined annually, and no recurrence was found so far. This case shows that an infant or a child present with unilateral eye swelling and ptosis of the upper eyelid should be evaluated for orbital neurofibroma.http://www.sciencedirect.com/science/article/pii/S2468294222000727Neurofibromatosis type 1Plexiform neurofibromaImaging examinationSurgical treatmentHealth supervision |
| spellingShingle | Mengying Peng Yuqing Zhang Qiong Zhou A case report of a 4-year-old girl with neurofibromatosis type 1 Cancer Treatment and Research Communications Neurofibromatosis type 1 Plexiform neurofibroma Imaging examination Surgical treatment Health supervision |
| title | A case report of a 4-year-old girl with neurofibromatosis type 1 |
| title_full | A case report of a 4-year-old girl with neurofibromatosis type 1 |
| title_fullStr | A case report of a 4-year-old girl with neurofibromatosis type 1 |
| title_full_unstemmed | A case report of a 4-year-old girl with neurofibromatosis type 1 |
| title_short | A case report of a 4-year-old girl with neurofibromatosis type 1 |
| title_sort | case report of a 4 year old girl with neurofibromatosis type 1 |
| topic | Neurofibromatosis type 1 Plexiform neurofibroma Imaging examination Surgical treatment Health supervision |
| url | http://www.sciencedirect.com/science/article/pii/S2468294222000727 |
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