Fetal Diagnosis of Rhombencephalosynapsis

Andrea Poretti; Eugen Boltshauser

doi:10.1055/s-0035-1566754

Neuropediatrics, Inhaltsverzeichnis

Neuropediatrics 2015; 46(06): 357-358
DOI: 10.1055/s-0035-1566754

Editorial Comment

Georg Thieme Verlag KG Stuttgart · New York

Fetal Diagnosis of Rhombencephalosynapsis

Andrea Poretti

¹Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins School of Medicine, Baltimore, Maryland, United States

²Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland

,

Eugen Boltshauser

²Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland

References
1 Ishak GE, Dempsey JC, Shaw DW , et al. Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. Brain 2012; 135 (Pt 5): 1370-1386
2 Yachnis AT. Rhombencephalosynapsis with massive hydrocephalus: case report and pathogenetic considerations. Acta Neuropathol 2002; 103 (3) 301-304
3 Jissendi-Tchofo P, Severino M, Nguema-Edzang B, Toure C, Soto Ares G, Barkovich AJ. Update on neuroimaging phenotypes of mid-hindbrain malformations. Neuroradiology 2015; 57 (2) 113-138
4 Poretti A, Alber FD, Bürki S, Toelle SP, Boltshauser E. Cognitive outcome in children with rhombencephalosynapsis. Eur J Paediatr Neurol 2009; 13 (1) 28-33
5 Sukhudyan B, Jaladyan V, Melikyan G, Schlump JU, Boltshauser E, Poretti A. Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria. Eur J Pediatr 2010; 169 (12) 1523-1528
6 Obersteiner H. Ein Kleinhirn ohne Wurm. Arb Neurol Inst Wien Univ 1916; 21: 124-136
7 Napolitano M, Righini A, Zirpoli S, Rustico M, Nicolini U, Triulzi F. Prenatal magnetic resonance imaging of rhombencephalosynapsis and associated brain anomalies: report of 3 cases. J Comput Assist Tomogr 2004; 28 (6) 762-765
8 McAuliffe F, Chitayat D, Halliday W , et al. Rhombencephalosynapsis: prenatal imaging and autopsy findings. Ultrasound Obstet Gynecol 2008; 31 (5) 542-548
9 Dill P, Poretti A, Boltshauser E, Huisman TA. Fetal magnetic resonance imaging in midline malformations of the central nervous system and review of the literature. J Neuroradiol 2009; 36 (3) 138-146
10 Izzo G, Conte G, Cesaretti C, Parazzini C, Bulfamante G, Righini A. Prenatal magnetic resonance imaging of atypical partial rhombencephalosynapsis with involvement of the anterior vermis: two case reports. Neuropediatrics 2015; 46 (6) 416-419
11 Whitehead MT, Choudhri AF, Grimm J, Nelson MD. Rhombencephalosynapsis as a cause of aqueductal stenosis: an under-recognized association in hydrocephalic children. Pediatr Radiol 2014; 44 (7) 849-856
12 Triulzi F, Parazzini C, Righini A. Magnetic resonance imaging of fetal cerebellar development. Cerebellum 2006; 5 (3) 199-205
13 Malinger G, Lev D, Lerman-Sagie T. The fetal cerebellum. Pitfalls in diagnosis and management. Prenat Diagn 2009; 29 (4) 372-380