Use of advanced imaging in diagnosis of neurofibromatosis 1
Neurofibromatosis (NF) is a Mendelian disorder which is carried as an autosomal dominant trait. Two genetically distinct subtypes have been recognized, NF type 1 (NF1) and NF2. NF1 patients present with cutaneous, ocular, musculoskeletal, cardiovascular, gastrointestinal, neurologic, and dental find...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2018-01-01
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| Series: | Journal of Oral and Maxillofacial Radiology |
| Subjects: | |
| Online Access: | http://www.joomr.org/article.asp?issn=2321-3841;year=2018;volume=6;issue=2;spage=36;epage=41;aulast=Singh |
| _version_ | 1818997715796754432 |
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| author | Eiti Singh Khushboo Singh Sunita Gupta Mayank Shailat |
| author_facet | Eiti Singh Khushboo Singh Sunita Gupta Mayank Shailat |
| author_sort | Eiti Singh |
| collection | DOAJ |
| description | Neurofibromatosis (NF) is a Mendelian disorder which is carried as an autosomal dominant trait. Two genetically distinct subtypes have been recognized, NF type 1 (NF1) and NF2. NF1 patients present with cutaneous, ocular, musculoskeletal, cardiovascular, gastrointestinal, neurologic, and dental findings but chiefly characterized by neurofibromas of central and peripheral nervous systems. Approximately 75%–80% of NF1 patients present with oral and radiographic manifestations, while 80% present with facial plexiform neurofibroma. This article aims to present a case report of NF1 diagnosed with the help of higher imaging. NF1 in a pediatric patient was diagnosed with classic findings of plexiform neurofibroma and sphenoid dysplasia diagnosed on cone-beam computed tomography (CT) and contrast-enhanced CT. Development of malignancies such as malignant peripheral nerve sheath tumors, optic gliomas, and leukemias is a major risk factor of NF1. Therefore, the use of imaging for early diagnosis of NF1 is critical. |
| first_indexed | 2024-12-20T21:50:03Z |
| format | Article |
| id | doaj.art-93f28f3f843a48ba892033ffb5b54a0d |
| institution | Directory Open Access Journal |
| issn | 2321-385X |
| language | English |
| last_indexed | 2024-12-20T21:50:03Z |
| publishDate | 2018-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Oral and Maxillofacial Radiology |
| spelling | doaj.art-93f28f3f843a48ba892033ffb5b54a0d2022-12-21T19:25:35ZengWolters Kluwer Medknow PublicationsJournal of Oral and Maxillofacial Radiology2321-385X2018-01-0162364110.4103/jomr.jomr_15_18Use of advanced imaging in diagnosis of neurofibromatosis 1Eiti SinghKhushboo SinghSunita GuptaMayank ShailatNeurofibromatosis (NF) is a Mendelian disorder which is carried as an autosomal dominant trait. Two genetically distinct subtypes have been recognized, NF type 1 (NF1) and NF2. NF1 patients present with cutaneous, ocular, musculoskeletal, cardiovascular, gastrointestinal, neurologic, and dental findings but chiefly characterized by neurofibromas of central and peripheral nervous systems. Approximately 75%–80% of NF1 patients present with oral and radiographic manifestations, while 80% present with facial plexiform neurofibroma. This article aims to present a case report of NF1 diagnosed with the help of higher imaging. NF1 in a pediatric patient was diagnosed with classic findings of plexiform neurofibroma and sphenoid dysplasia diagnosed on cone-beam computed tomography (CT) and contrast-enhanced CT. Development of malignancies such as malignant peripheral nerve sheath tumors, optic gliomas, and leukemias is a major risk factor of NF1. Therefore, the use of imaging for early diagnosis of NF1 is critical.http://www.joomr.org/article.asp?issn=2321-3841;year=2018;volume=6;issue=2;spage=36;epage=41;aulast=SinghCentral nervous systemneurofibromaneurofibromatosis type 1 |
| spellingShingle | Eiti Singh Khushboo Singh Sunita Gupta Mayank Shailat Use of advanced imaging in diagnosis of neurofibromatosis 1 Journal of Oral and Maxillofacial Radiology Central nervous system neurofibroma neurofibromatosis type 1 |
| title | Use of advanced imaging in diagnosis of neurofibromatosis 1 |
| title_full | Use of advanced imaging in diagnosis of neurofibromatosis 1 |
| title_fullStr | Use of advanced imaging in diagnosis of neurofibromatosis 1 |
| title_full_unstemmed | Use of advanced imaging in diagnosis of neurofibromatosis 1 |
| title_short | Use of advanced imaging in diagnosis of neurofibromatosis 1 |
| title_sort | use of advanced imaging in diagnosis of neurofibromatosis 1 |
| topic | Central nervous system neurofibroma neurofibromatosis type 1 |
| url | http://www.joomr.org/article.asp?issn=2321-3841;year=2018;volume=6;issue=2;spage=36;epage=41;aulast=Singh |
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