M T Whitehead1,2,3,4,5, M J Barkovich6,7, J Sidpra8,9, C A Alves4, D M Mirsky10, Ö Öztekin11, D Bhattacharya12, L T Lucato13, S Sudhakar9, A Taranath14,15, S Andronikou4,5, S P Prabhu16, K A Aldinger17, P Haldipur17, K J Millen17,18, A J Barkovich6,7, E Boltshauser19, W B Dobyns20, K Mankad8,9. 1. From the Department of Radiology (M.T.W.) WhiteheadM@CHOP.edu. 2. Prenatal Pediatrics Institute (M.T.W.), Children's National Hospital, Washington DC. 3. The George Washington University School of Medicine and Health Sciences (M.T.W.), Washington DC. 4. Division of Neuroradiology (M.T.W., C.A.A., S.A.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania. 5. Department of Radiology, Perelman School of Medicine (M.T.W., S.A), University of Pennsylvania, Philadelphia, Pennsylvania. 6. Department of Radiology and Biomedical Imaging (M.J.B., A.J.B.) University of California, San Francisco, San Francisco, California. 7. Neuroradiology Section (M.J.B., A.J.B.), University of California, San Francisco-Benioff Children's Hospital, San Francisco, California. 8. Developmental Biology and Cancer Section (J.S., K.M.), University College London Great Ormond Street Institute of Child Health, London, UK. 9. Department of Neuroradiology (J.S., S.S., K.M.), Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, UK. 10. Department of Radiology (D.M.M.), Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado. 11. Department of Neuroradiology (Ö.Ö.), Bakırçay University, Çiğli Education and Research Hospital, İzmir, Turkey. 12. Department of Neuroradiology (D.B.), Royal Victoria Hospital, Belfast, UK. 13. Division of Diagnostic Neuroradiology (L.T.L.), Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil. 14. Department of Medical Imaging (A.T.), Women's and Children's Hospital, North Adelaide, South Australia, Australia. 15. Faculty of Medicine (A.T.), University of Adelaide, Adelaide, South Australia, Australia. 16. Department of Neuroradiology (S.P.P.), Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts. 17. Center for Integrative Brain Research (K.A.A., P.H., K.J.M.), Seattle Children's Research Institute, Seattle, Washington. 18. University of Washington School of Medicine (K.J.M.), Seattle, Washington. 19. Department of Pediatric Neurology (E.B.), University Children's Hospital, Zürich, Switzerland. 20. Department of Genetics and Metabolism (W.B.D.), Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.
Abstract
BACKGROUND AND PURPOSE: The traditionally described Dandy-Walker malformation comprises a range of cerebellar and posterior fossa abnormalities with variable clinical severity. We aimed to establish updated imaging criteria for Dandy-Walker malformation on the basis of cerebellar development. MATERIALS AND METHODS: In this multicenter study, retrospective MR imaging examinations from fetuses and children previously diagnosed with Dandy-Walker malformation or vermian hypoplasia were re-evaluated, using the choroid plexus/tela choroidea location and the fastigial recess shape to differentiate Dandy-Walker malformation from vermian hypoplasia. Multiple additional measures of the posterior fossa and cerebellum were also obtained and compared between Dandy-Walker malformation and other diagnoses. RESULTS: Four hundred forty-six examinations were analyzed (174 fetal and 272 postnatal). The most common diagnoses were Dandy-Walker malformation (78%), vermian hypoplasia (14%), vermian hypoplasia with Blake pouch cyst (9%), and Blake pouch cyst (4%). Most measures were significant differentiators of Dandy-Walker malformation from non-Dandy-Walker malformation both pre- and postnatally (P < .01); the tegmentovermian and fastigial recess angles were the most significant quantitative measures. Posterior fossa perimeter and vascular injury evidence were not significant differentiators pre- or postnatally (P > .3). The superior posterior fossa angle, torcular location, and vermian height differentiated groups postnatally (P < .01), but not prenatally (P > .07). CONCLUSIONS: As confirmed by objective measures, the modern Dandy-Walker malformation phenotype is best defined by inferior predominant vermian hypoplasia, an enlarged tegmentovermian angle, inferolateral displacement of the tela choroidea/choroid plexus, an obtuse fastigial recess, and an unpaired caudal lobule. Posterior fossa size and torcular location should be eliminated from the diagnostic criteria. This refined phenotype may help guide future study of the numerous etiologies and varied clinical outcomes.
BACKGROUND AND PURPOSE: The traditionally described Dandy-Walker malformation comprises a range of cerebellar and posterior fossa abnormalities with variable clinical severity. We aimed to establish updated imaging criteria for Dandy-Walker malformation on the basis of cerebellar development. MATERIALS AND METHODS: In this multicenter study, retrospective MR imaging examinations from fetuses and children previously diagnosed with Dandy-Walker malformation or vermian hypoplasia were re-evaluated, using the choroid plexus/tela choroidea location and the fastigial recess shape to differentiate Dandy-Walker malformation from vermian hypoplasia. Multiple additional measures of the posterior fossa and cerebellum were also obtained and compared between Dandy-Walker malformation and other diagnoses. RESULTS: Four hundred forty-six examinations were analyzed (174 fetal and 272 postnatal). The most common diagnoses were Dandy-Walker malformation (78%), vermian hypoplasia (14%), vermian hypoplasia with Blake pouch cyst (9%), and Blake pouch cyst (4%). Most measures were significant differentiators of Dandy-Walker malformation from non-Dandy-Walker malformation both pre- and postnatally (P < .01); the tegmentovermian and fastigial recess angles were the most significant quantitative measures. Posterior fossa perimeter and vascular injury evidence were not significant differentiators pre- or postnatally (P > .3). The superior posterior fossa angle, torcular location, and vermian height differentiated groups postnatally (P < .01), but not prenatally (P > .07). CONCLUSIONS: As confirmed by objective measures, the modern Dandy-Walker malformation phenotype is best defined by inferior predominant vermian hypoplasia, an enlarged tegmentovermian angle, inferolateral displacement of the tela choroidea/choroid plexus, an obtuse fastigial recess, and an unpaired caudal lobule. Posterior fossa size and torcular location should be eliminated from the diagnostic criteria. This refined phenotype may help guide future study of the numerous etiologies and varied clinical outcomes.
Authors: Diane M Twickler; Taylor Reichel; Donald D McIntire; Kevin P Magee; Ronald M Ramus Journal: Am J Obstet Gynecol Date: 2002-10 Impact factor: 8.661
Authors: Kimberly A Aldinger; Andrew E Timms; Zachary Thomson; Ghayda M Mirzaa; James T Bennett; Alexander B Rosenberg; Charles M Roco; Matthew Hirano; Fatima Abidi; Parthiv Haldipur; Chi V Cheng; Sarah Collins; Kaylee Park; Jordan Zeiger; Lynne M Overmann; Fowzan S Alkuraya; Leslie G Biesecker; Stephen R Braddock; Sara Cathey; Megan T Cho; Brian H Y Chung; David B Everman; Yuri A Zarate; Julie R Jones; Charles E Schwartz; Amy Goldstein; Robert J Hopkin; Ian D Krantz; Roger L Ladda; Kathleen A Leppig; Barbara C McGillivray; Susan Sell; Katherine Wusik; Joseph G Gleeson; Deborah A Nickerson; Michael J Bamshad; Dianne Gerrelli; Steven N Lisgo; Georg Seelig; Gisele E Ishak; A James Barkovich; Cynthia J Curry; Ian A Glass; Kathleen J Millen; Dan Doherty; William B Dobyns Journal: Am J Hum Genet Date: 2019-08-29 Impact factor: 11.025
Authors: C Jandeaux; G Kuchcinski; C Ternynck; A Riquet; X Leclerc; J-P Pruvo; G Soto-Ares Journal: AJNR Am J Neuroradiol Date: 2019-10-17 Impact factor: 3.825