Noonan syndrome with RAF1 gene mutations in a newborn with cerebral haemorrhage

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.

Keywords

• Noonan syndrome
• RAF1, cerebral haemorrhage
• Newborn
• 46, X, del (Y) (q12)