Neonatology Department, Research Group in Lishui Municipal Central Hospital of Zhejiang Province, Lishui Hospital of Zhejiang University, Lishui, 323000, China.
Eur J Med Res. 2022 Aug 11;27(1):146. doi: 10.1186/s40001-022-00772-2.
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.
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.
After symptomatic treatment, the baby recovered well, but the main cause of cerebral haemorrhage was not found.
努南综合征是一种常染色体显性遗传病，可发生于男性和女性，具有散发性或家族史。努南综合征可导致异常出血，但脑出血较为罕见。这是首例起源于新生儿期的 RAF1 基因突变导致的脑出血病例。
本病例介绍了一名新生儿，因 RAF1 基因突变导致努南综合征，合并染色体 46，X，del（Y）（q12）异常。在治疗过程中，患儿呼吸突然增快。头颅 MRI 检查发现颅内多处出血。
经过对症治疗，患儿恢复良好，但未找到脑出血的主要原因。
