M N Cizmeci1,2, M Lequin3, K D Lichtenbelt4, D Chitayat5,6, P Kannu5, A G James7, F Groenendaal1,2, E Chakkarapani8, S Blaser9, L S de Vries10,2. 1. From the Departments of Neonatology (M.N.C., F.G., L.S.d.V.). 2. Brain Center Rudolf Magnus (M.N.C., F.G., L.S.d.V.). 3. Pediatric Radiology (M.L.), Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands. 4. Department of Medical Genetics (K.D.L.), University Medical Center Utrecht, Utrecht, the Netherlands. 5. Divisions of Clinical and Metabolic Genetics (D.C., P.K.). 6. Departments of Obstetrics and Gynecology, Laboratory Medicine, Pathobiology and Molecular Genetics (D.C.), University of Toronto, Toronto, Canada. 7. Neonatology (A.G.J.). 8. Division of Neonatology (E.C.), School of Clinical Sciences, St Michael's Hospital, University of Bristol, Bristol, UK. 9. Neuroradiology (S.B.), Department of Diagnostic Imaging, The Hospital for Sick Children and Department of Paediatrics, University of Toronto, Toronto, Canada. 10. From the Departments of Neonatology (M.N.C., F.G., L.S.d.V.) l.s.devries@umcutrecht.nl.
Abstract
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.
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.
Authors: Angela Myers; Jonathan A Bernstein; Marie-Luise Brennan; Cynthia Curry; Edward D Esplin; Jamie Fisher; Margaret Homeyer; Melanie A Manning; Eric A Muller; Anna-Kaisa Niemi; Laurie H Seaver; Susan R Hintz; Louanne Hudgins Journal: Am J Med Genet A Date: 2014-09-22 Impact factor: 2.802
Authors: Karen W Gripp; Dina J Zand; Laurie Demmer; Carol E Anderson; William B Dobyns; Elaine H Zackai; Elizabeth Denenberg; Kim Jenny; Deborah L Stabley; Katia Sol-Church Journal: Am J Med Genet A Date: 2013-08-05 Impact factor: 2.802
Authors: Karen W Gripp; Lisa Schill; Lisa Schoyer; Beth Stronach; Anton M Bennett; Susan Blaser; Amanda Brown; Rebecca Burdine; Emma Burkitt-Wright; Pau Castel; Sandra Darilek; Alwyn Dias; Tuesdi Dyer; Michelle Ellis; Gregg Erickson; Bruce D Gelb; Tamar Green; Andrea Gross; Alan Ho; James Lloyd Holder; Shin-Ichi Inoue; Angie C Jelin; Annie Kennedy; Richard Klein; Maria I Kontaridis; Pilar Magoulas; Darryl B McConnell; Frank McCormick; Benjamin G Neel; Carlos E Prada; Katherine A Rauen; Amy Roberts; Pablo Rodriguez-Viciana; Neal Rosen; Gavin Rumbaugh; Anna Sablina; Maja Solman; Marco Tartaglia; Angelica Thomas; William C Timmer; Kartik Venkatachalam; Karin S Walsh; Pamela L Wolters; Jae-Sung Yi; Martin Zenker; Nancy Ratner Journal: Am J Med Genet A Date: 2019-12-11 Impact factor: 2.802