Diagnosis of neonatal neurofibromatosis type 1: a case report and review of the literature
Abstract Background Neurofibromatosis Type 1 (NF1) is a rare genetic disorder characterized with the development of multiple benign tumors on the nerves and skin. Case presentation This report described a neonatal case with a large mass observed on the left side of the maxillofacial and cervical reg...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2023-05-01
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| Series: | BMC Pediatrics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12887-023-04077-z |
| _version_ | 1797817814875111424 |
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| author | Qiuying Zheng Bei Xia Xiaoli Zhao Ruijie Wang Fusui Xie Nihui Pei Hongwei Tao Tingting Ding Lei Liu |
| author_facet | Qiuying Zheng Bei Xia Xiaoli Zhao Ruijie Wang Fusui Xie Nihui Pei Hongwei Tao Tingting Ding Lei Liu |
| author_sort | Qiuying Zheng |
| collection | DOAJ |
| description | Abstract Background Neurofibromatosis Type 1 (NF1) is a rare genetic disorder characterized with the development of multiple benign tumors on the nerves and skin. Case presentation This report described a neonatal case with a large mass observed on the left side of the maxillofacial and cervical region at birth. Meantime, multiple cafe-au-lait macules (CALMs) were seen on the trunk and both lower extremities. Conclusions In this case, the clinical features of the rare NF1 neonate are discussed along with its ultrasound findings. |
| first_indexed | 2024-03-13T08:58:59Z |
| format | Article |
| id | doaj.art-fe95d0eb5aa74f898fcb5aedc33dc663 |
| institution | Directory Open Access Journal |
| issn | 1471-2431 |
| language | English |
| last_indexed | 2024-03-13T08:58:59Z |
| publishDate | 2023-05-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pediatrics |
| spelling | doaj.art-fe95d0eb5aa74f898fcb5aedc33dc6632023-05-28T11:27:50ZengBMCBMC Pediatrics1471-24312023-05-012311510.1186/s12887-023-04077-zDiagnosis of neonatal neurofibromatosis type 1: a case report and review of the literatureQiuying Zheng0Bei Xia1Xiaoli Zhao2Ruijie Wang3Fusui Xie4Nihui Pei5Hongwei Tao6Tingting Ding7Lei Liu8Department of Ultrasound, Shenzhen Children’s HospitalDepartment of Ultrasound, Shenzhen Children’s HospitalNeonatal Intensive Care Unit, Shenzhen Children’s HospitalDepartment of Ultrasound, Shenzhen Children’s HospitalDepartment of Ultrasound, Shenzhen Children’s HospitalRadiology Department, Shenzhen Children’s HospitalDepartment of Ultrasound, Shenzhen Children’s HospitalDepartment of Ultrasound, Shenzhen Children’s HospitalDepartment of Ultrasound, Shenzhen Children’s HospitalAbstract Background Neurofibromatosis Type 1 (NF1) is a rare genetic disorder characterized with the development of multiple benign tumors on the nerves and skin. Case presentation This report described a neonatal case with a large mass observed on the left side of the maxillofacial and cervical region at birth. Meantime, multiple cafe-au-lait macules (CALMs) were seen on the trunk and both lower extremities. Conclusions In this case, the clinical features of the rare NF1 neonate are discussed along with its ultrasound findings.https://doi.org/10.1186/s12887-023-04077-zNeurofibromatosis type 1NeonateUltrasoundImagingCase report |
| spellingShingle | Qiuying Zheng Bei Xia Xiaoli Zhao Ruijie Wang Fusui Xie Nihui Pei Hongwei Tao Tingting Ding Lei Liu Diagnosis of neonatal neurofibromatosis type 1: a case report and review of the literature BMC Pediatrics Neurofibromatosis type 1 Neonate Ultrasound Imaging Case report |
| title | Diagnosis of neonatal neurofibromatosis type 1: a case report and review of the literature |
| title_full | Diagnosis of neonatal neurofibromatosis type 1: a case report and review of the literature |
| title_fullStr | Diagnosis of neonatal neurofibromatosis type 1: a case report and review of the literature |
| title_full_unstemmed | Diagnosis of neonatal neurofibromatosis type 1: a case report and review of the literature |
| title_short | Diagnosis of neonatal neurofibromatosis type 1: a case report and review of the literature |
| title_sort | diagnosis of neonatal neurofibromatosis type 1 a case report and review of the literature |
| topic | Neurofibromatosis type 1 Neonate Ultrasound Imaging Case report |
| url | https://doi.org/10.1186/s12887-023-04077-z |
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