Author:
Lan Junwei,Zeng Tianbao,Liu Sheng,Lan Juhong,Qian Lijun
Abstract
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.
Publisher
Springer Science and Business Media LLC
Reference22 articles.
1. Johnston JJ, van der Smagt JJ, Rosenfeld JA, et al. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. Genet Med. 2018;20(10):1175–85.
2. Mallineni SK, Yiu C, King NM. Oral manifestations of Noonan syndrome: review of the literature and a report of four cases. Rom J Morphol Embryol. 2014;55(4):1503.
3. Turner AM. Noonan syndrome. J Paediatr Child Health. 2014;50(10):E14-20.
4. Qiuju W, Yiping S, Lingqian W, et al. Standards and guidelines for the classification of genetic variation. Sci China Life Sci. 2017;47(06):668–88.
5. Bhambhani V, Muenke M. Noonan syndrome. Am Fam Physician. 2014;89(1):37–43.
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