A Rare Case Report of Neonatal Neurofibromatosis Type 1 Presented with Giant Faciocervical Mass and Complicated with HIE
Boce Liu,1 Wenjing Wang,1 Jianhai Bi,2 Ran Huo1,2 1Department of Plastic Surgery, Shandong Provincial Hospital, Shandong University, Jinan, People’s Republic of China; 2Department of Plastic Surgery, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, People’s Republ...
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| Format: | Article |
| Language: | English |
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Dove Medical Press
2023-12-01
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| Series: | International Medical Case Reports Journal |
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| Online Access: | https://www.dovepress.com/a-rare-case-report-of-neonatal-neurofibromatosis-type-1-presented-with-peer-reviewed-fulltext-article-IMCRJ |
| _version_ | 1797387907705602048 |
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| author | Liu B Wang W Bi J Huo R |
| author_facet | Liu B Wang W Bi J Huo R |
| author_sort | Liu B |
| collection | DOAJ |
| description | Boce Liu,1 Wenjing Wang,1 Jianhai Bi,2 Ran Huo1,2 1Department of Plastic Surgery, Shandong Provincial Hospital, Shandong University, Jinan, People’s Republic of China; 2Department of Plastic Surgery, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, People’s Republic of ChinaCorrespondence: Ran Huo, Department of Plastic Surgery, Shandong Provincial Hospital, Shandong University, Jinan, Shandong, People’s Republic of China, Tel +86-15168889001, Fax +86-0531-68778153, Email huoran@medmail.com.cnAbstract: A newborn with giant faciocervical mass and presented with asphyxia during birth was admitted to the hospital. After stabilizing her vital sign, we provided the patient with image examinations and whole-exome sequencing, which revealed a heterozygous variation of neurofibromatosis type 1 (NF1). The final diagnosis of the patient was NF1 complicated with neonatal hypoxic-ischemic encephalopathy (NHIE). During hospitalization, the patient received comprehensive and systematic care. There was no reports of similar cases in the literature. So, this report aimed to elucidate the special clinical manifestations, diagnosis, treatment and prognosis of NF1 complicated with NHIE by analyzing the clinical data of the patient and her family and reviewing relevant literature.Keywords: neurofibromatosis type 1, neonatal hypoxic-ischemic encephalopathy, NF1 gene variation, whole-exome sequencing |
| first_indexed | 2024-03-08T22:33:01Z |
| format | Article |
| id | doaj.art-07ec5e6537974306b4a2c3ae1e98b3b0 |
| institution | Directory Open Access Journal |
| issn | 1179-142X |
| language | English |
| last_indexed | 2024-03-08T22:33:01Z |
| publishDate | 2023-12-01 |
| publisher | Dove Medical Press |
| record_format | Article |
| series | International Medical Case Reports Journal |
| spelling | doaj.art-07ec5e6537974306b4a2c3ae1e98b3b02023-12-17T17:01:55ZengDove Medical PressInternational Medical Case Reports Journal1179-142X2023-12-01Volume 1683383989054A Rare Case Report of Neonatal Neurofibromatosis Type 1 Presented with Giant Faciocervical Mass and Complicated with HIELiu BWang WBi JHuo RBoce Liu,1 Wenjing Wang,1 Jianhai Bi,2 Ran Huo1,2 1Department of Plastic Surgery, Shandong Provincial Hospital, Shandong University, Jinan, People’s Republic of China; 2Department of Plastic Surgery, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, People’s Republic of ChinaCorrespondence: Ran Huo, Department of Plastic Surgery, Shandong Provincial Hospital, Shandong University, Jinan, Shandong, People’s Republic of China, Tel +86-15168889001, Fax +86-0531-68778153, Email huoran@medmail.com.cnAbstract: A newborn with giant faciocervical mass and presented with asphyxia during birth was admitted to the hospital. After stabilizing her vital sign, we provided the patient with image examinations and whole-exome sequencing, which revealed a heterozygous variation of neurofibromatosis type 1 (NF1). The final diagnosis of the patient was NF1 complicated with neonatal hypoxic-ischemic encephalopathy (NHIE). During hospitalization, the patient received comprehensive and systematic care. There was no reports of similar cases in the literature. So, this report aimed to elucidate the special clinical manifestations, diagnosis, treatment and prognosis of NF1 complicated with NHIE by analyzing the clinical data of the patient and her family and reviewing relevant literature.Keywords: neurofibromatosis type 1, neonatal hypoxic-ischemic encephalopathy, NF1 gene variation, whole-exome sequencinghttps://www.dovepress.com/a-rare-case-report-of-neonatal-neurofibromatosis-type-1-presented-with-peer-reviewed-fulltext-article-IMCRJneurofibromatosis type 1neonatal hypoxic-ischemic encephalopathynf1 gene variationwhole-exome sequencing |
| spellingShingle | Liu B Wang W Bi J Huo R A Rare Case Report of Neonatal Neurofibromatosis Type 1 Presented with Giant Faciocervical Mass and Complicated with HIE International Medical Case Reports Journal neurofibromatosis type 1 neonatal hypoxic-ischemic encephalopathy nf1 gene variation whole-exome sequencing |
| title | A Rare Case Report of Neonatal Neurofibromatosis Type 1 Presented with Giant Faciocervical Mass and Complicated with HIE |
| title_full | A Rare Case Report of Neonatal Neurofibromatosis Type 1 Presented with Giant Faciocervical Mass and Complicated with HIE |
| title_fullStr | A Rare Case Report of Neonatal Neurofibromatosis Type 1 Presented with Giant Faciocervical Mass and Complicated with HIE |
| title_full_unstemmed | A Rare Case Report of Neonatal Neurofibromatosis Type 1 Presented with Giant Faciocervical Mass and Complicated with HIE |
| title_short | A Rare Case Report of Neonatal Neurofibromatosis Type 1 Presented with Giant Faciocervical Mass and Complicated with HIE |
| title_sort | rare case report of neonatal neurofibromatosis type 1 presented with giant faciocervical mass and complicated with hie |
| topic | neurofibromatosis type 1 neonatal hypoxic-ischemic encephalopathy nf1 gene variation whole-exome sequencing |
| url | https://www.dovepress.com/a-rare-case-report-of-neonatal-neurofibromatosis-type-1-presented-with-peer-reviewed-fulltext-article-IMCRJ |
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