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.
The organic molecule of the title compound, C18H14N4O2·H2O, lies on a center of inversion located at the centre of the central phenylene ring. There are two half-molecules in the asymmetric unit. In the crystal, the molecules are linked through by N—H⋯O and O—H⋯N hydrogen bonds involving the water molecule, forming a layer structure. The layers interact by π–π interactions between the aromatic rings.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.