Anna Pichiecchio1, Alice Decio2, Carol Di Perri3, Cecilia Parazzini4, Andrea Rossi5, Sabrina Signorini6. 1. Neuroradiology Department, C.Mondino National Neurological Institute, Pavia, Italy. Electronic address: anna.pichiecchio@mondino.it. 2. Child Neurology and Psychiatry Unit, Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy. 3. Neuroradiology Department, C.Mondino National Neurological Institute, Pavia, Italy. 4. Pediatric Radiology and Neuroradiology Unit, ICP Children Hospital V. Buzzi, Milano, Italy. 5. Neuroradiology Unit, Istituto Giannina Gaslini, Genoa, Italy. 6. Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy.
Abstract
BACKGROUND/ PURPOSE: Neuroimaging plays a fundamental role in the diagnosis of Dandy Walker malformation (DWM), a posterior fossa anomaly that is usually associated with genetic abnormalities, but may rarely be ascribed to acquired causes. Here, we report the clinical history and neuroimaging studies of a child with a complex cardiac malformation, developmental delay, and oculomotor anomalies whose neuroimaging findings were consistent with an acquired form of DWM. METHODS/ RESULTS: Fetal MRI at gestational weeks 27 and 31 showed cerebellar and vermis hypoplasia and fourth ventricle enlargement, together with hemosiderin deposits on the cerebellar hemispheric surface, but without significant vermian rotation. Postnatal MRIs at 5 days and 13 months revealed progressive counter-clockwise rotation of the hypoplastic cerebellar vermis with cystic dilation of the fourth ventricle, eventually leading to a full-blown DWM. CONCLUSION: This case strengthens the opinion that DWM is a heterogeneous condition, and may support the hypothesis that acquired meningeal abnormalities in the form of cortico-pial hemosiderosis may play a role in the development of DWM. This case also demonstrates that serial neuroimaging plays a key role in the correct diagnosis of posterior fossa malformations, whose prognosis is difficult to establish on second trimester fetal MRI and requires longer clinical follow-up.
BACKGROUND/ PURPOSE: Neuroimaging plays a fundamental role in the diagnosis of Dandy Walker malformation (DWM), a posterior fossa anomaly that is usually associated with genetic abnormalities, but may rarely be ascribed to acquired causes. Here, we report the clinical history and neuroimaging studies of a child with a complex cardiac malformation, developmental delay, and oculomotor anomalies whose neuroimaging findings were consistent with an acquired form of DWM. METHODS/ RESULTS: Fetal MRI at gestational weeks 27 and 31 showed cerebellar and vermis hypoplasia and fourth ventricle enlargement, together with hemosiderin deposits on the cerebellar hemispheric surface, but without significant vermian rotation. Postnatal MRIs at 5 days and 13 months revealed progressive counter-clockwise rotation of the hypoplastic cerebellar vermis with cystic dilation of the fourth ventricle, eventually leading to a full-blown DWM. CONCLUSION: This case strengthens the opinion that DWM is a heterogeneous condition, and may support the hypothesis that acquired meningeal abnormalities in the form of cortico-pial hemosiderosis may play a role in the development of DWM. This case also demonstrates that serial neuroimaging plays a key role in the correct diagnosis of posterior fossa malformations, whose prognosis is difficult to establish on second trimester fetal MRI and requires longer clinical follow-up.
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: Parthiv Haldipur; Kimberly A Aldinger; Silvia Bernardo; Mei Deng; Andrew E Timms; Lynne M Overman; Conrad Winter; Steven N Lisgo; Ferechte Razavi; Evelina Silvestri; Lucia Manganaro; Homa Adle-Biassette; Fabien Guimiot; Rosa Russo; Debora Kidron; Patrick R Hof; Dianne Gerrelli; Susan J Lindsay; William B Dobyns; Ian A Glass; Paula Alexandre; Kathleen J Millen Journal: Science Date: 2019-10-17 Impact factor: 47.728
Authors: Kaylee B Park; Teresa Chapman; Kimberly A Aldinger; Ghayda M Mirzaa; Jordan Zeiger; Anita Beck; Ian A Glass; Robert F Hevner; Anna C Jansen; Desiree A Marshall; Renske Oegema; Elena Parrini; Russell P Saneto; Cynthia J Curry; Judith G Hall; Renzo Guerrini; Richard J Leventer; William B Dobyns Journal: Am J Med Genet A Date: 2020-11-18 Impact factor: 2.802