Noonan syndrome with RAF1 gene mutations in a newborn with cerebral haemorrhage
Abstract Background Noonan syndrome is an autosomal dominant genetic disorder that can occur in men and women and has a sporadic or family history. NS can lead to abnormal bleeding, but cerebral haemorrhage is rare. This is the first case of cerebral haemorrhage with a RAF1 gene mutation that origin...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2022-08-01
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| Series: | European Journal of Medical Research |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s40001-022-00772-2 |
| _version_ | 1818084287990202368 |
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| author | Junwei Lan Tianbao Zeng Sheng Liu Juhong Lan Lijun Qian |
| author_facet | Junwei Lan Tianbao Zeng Sheng Liu Juhong Lan Lijun Qian |
| author_sort | Junwei Lan |
| collection | DOAJ |
| description | Abstract Background Noonan syndrome is an autosomal dominant genetic disorder that can occur in men and women and has a sporadic or family history. NS can lead to abnormal bleeding, but cerebral haemorrhage is rare. This is the first case of cerebral haemorrhage with a RAF1 gene mutation that originated in the neonatal period. Case presentation This case presents a newborn with a RAF1 gene mutation resulting in NS complicated with an abnormality of chromosome 46, X, del (Y) (q12). In the course of treatment, the baby's breathing suddenly increased. After an MRI examination of the skull, haemorrhaging was found in multiple parts of the brain. Conclusions After symptomatic treatment, the baby recovered well, but the main cause of cerebral haemorrhage was not found. |
| first_indexed | 2024-12-10T19:51:30Z |
| format | Article |
| id | doaj.art-4eca422c59354b74ab61063a7428c6ed |
| institution | Directory Open Access Journal |
| issn | 2047-783X |
| language | English |
| last_indexed | 2024-12-10T19:51:30Z |
| publishDate | 2022-08-01 |
| publisher | BMC |
| record_format | Article |
| series | European Journal of Medical Research |
| spelling | doaj.art-4eca422c59354b74ab61063a7428c6ed2022-12-22T01:35:46ZengBMCEuropean Journal of Medical Research2047-783X2022-08-012711710.1186/s40001-022-00772-2Noonan syndrome with RAF1 gene mutations in a newborn with cerebral haemorrhageJunwei Lan0Tianbao Zeng1Sheng Liu2Juhong Lan3Lijun Qian4Neonatology Department, Research Group in Lishui Municipal Central Hospital of Zhejiang Province, Lishui Hospital of Zhejiang UniversityNeonatology Department, Research Group in Lishui Municipal Central Hospital of Zhejiang Province, Lishui Hospital of Zhejiang UniversityNeonatology Department, Research Group in Lishui Municipal Central Hospital of Zhejiang Province, Lishui Hospital of Zhejiang UniversityNeonatology Department, Research Group in Lishui Municipal Central Hospital of Zhejiang Province, Lishui Hospital of Zhejiang UniversityNeonatology Department, Research Group in Lishui Municipal Central Hospital of Zhejiang Province, Lishui Hospital of Zhejiang UniversityAbstract Background Noonan syndrome is an autosomal dominant genetic disorder that can occur in men and women and has a sporadic or family history. NS can lead to abnormal bleeding, but cerebral haemorrhage is rare. This is the first case of cerebral haemorrhage with a RAF1 gene mutation that originated in the neonatal period. Case presentation This case presents a newborn with a RAF1 gene mutation resulting in NS complicated with an abnormality of chromosome 46, X, del (Y) (q12). In the course of treatment, the baby's breathing suddenly increased. After an MRI examination of the skull, haemorrhaging was found in multiple parts of the brain. Conclusions After symptomatic treatment, the baby recovered well, but the main cause of cerebral haemorrhage was not found.https://doi.org/10.1186/s40001-022-00772-2Noonan syndromeRAF1, cerebral haemorrhageNewborn46, X, del (Y) (q12) |
| spellingShingle | Junwei Lan Tianbao Zeng Sheng Liu Juhong Lan Lijun Qian Noonan syndrome with RAF1 gene mutations in a newborn with cerebral haemorrhage European Journal of Medical Research Noonan syndrome RAF1, cerebral haemorrhage Newborn 46, X, del (Y) (q12) |
| title | Noonan syndrome with RAF1 gene mutations in a newborn with cerebral haemorrhage |
| title_full | Noonan syndrome with RAF1 gene mutations in a newborn with cerebral haemorrhage |
| title_fullStr | Noonan syndrome with RAF1 gene mutations in a newborn with cerebral haemorrhage |
| title_full_unstemmed | Noonan syndrome with RAF1 gene mutations in a newborn with cerebral haemorrhage |
| title_short | Noonan syndrome with RAF1 gene mutations in a newborn with cerebral haemorrhage |
| title_sort | noonan syndrome with raf1 gene mutations in a newborn with cerebral haemorrhage |
| topic | Noonan syndrome RAF1, cerebral haemorrhage Newborn 46, X, del (Y) (q12) |
| url | https://doi.org/10.1186/s40001-022-00772-2 |
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