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An observational case-control study of neonates with a confirmed RASopathy was conducted. The authors reviewed 48 brain MR studies performed at 3 academic centers in 3 countries between 2009 and 2017. Sixteen of these infants had a genetically confirmed RASopathy (group 1), and 32 healthy infants were enrolled as the control group (group 2). An increased rate of white matter lesions, extracerebral space enlargement, simplification of the cortical gyrification, and white matter abnormalities were seen in group 1. The vermis height of patients was significantly lower, and tentorial and infratentorial angles were significantly higher in group 1. Neonates with a RASopathy had characteristic structural and acquired abnormalities in the cortical gray matter, white matter, corpus callosum, cerebellum, and posterior fossa.

Abstract

Figure 2 from paper
Characteristic MR imaging findings of neonates with a RASopathy. A, Preterm neonate, gestational age 28 weeks 6 days, MR imaging performed at postmenstrual age 30 weeks 5 days. T2-weighted midsagittal MR image shows a vertical tentorium and splenium of the corpus callosum. B, Preterm neonate, gestational age 34 weeks 2 days. T2-weighted axial MR image demonstrates the presence of hemorrhagic and cystic lesions in the peripheral regions of the cerebellum. C, Preterm neonate, gestational age 34 weeks 2 days. T2-weighted axial MR imaging shows a mildly enlarged extracerebral space with severe white matter injury, which evolved into extensive cysts. D, Preterm neonate, gestational age 34 weeks. Axial T2-weighted MR image shows a severely enlarged extracerebral space, punctate white matter lesions, and a small amount of blood in the lateral ventricles.

BACKGROUND AND PURPOSE

Neuroimaging features in neonates with RASopathies are rarely reported, and to date, there are no neuroimaging studies conducted in this population. Our aim was to investigate the occurrence of supratentorial and posterior fossa abnormalities on brain MRIs of neonates with a RASopathy.

MATERIALS AND METHODS

An observational case-control study of neonates with a confirmed RASopathy was conducted. The presence of an intraventricular and/or parenchymal hemorrhage and punctate white matter lesions and assessments of the splenium of the corpus callosum, gyrification of the cortical gray matter, and enlargement of the extracerebral space were noted. The vermis height, transverse cerebellar diameter, cranial base angle, tentorial angle, and infratentorial angle were measured.

RESULTS

We reviewed 48 brain MR studies performed at 3 academic centers in 3 countries between 2009 and 2017. Sixteen of these infants had a genetically confirmed RASopathy (group 1), and 32 healthy infants were enrolled as the control group (group 2). An increased rate of white matter lesions, extracerebral space enlargement, simplification of the cortical gyrification, and white matter abnormalities were seen in group 1 (P < .001, for each). The vermis height of patients was significantly lower, and tentorial and infratentorial angles were significantly higher in group 1 (P = .01, P < .001, and P = .001, respectively).

CONCLUSIONS

Neonates with a RASopathy had characteristic structural and acquired abnormalities in the cortical gray matter, white matter, corpus callosum, cerebellum, and posterior fossa. This study provides novel neuroimaging findings on supratentorial and posterior fossa abnormalities in neonates with a RASopathy.

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