Dandy-Walker Malformation Masking the Molar Tooth Sign: An Illustrative Case With Magnetic Resonance Imaging Follow-up

DOI Web Site 被引用文献2件
  • Stefano Sartori
    Paediatric Neurology Unit, Department of Paediatrics Salus Pueri, University of Padua, Padua, Italy,
  • Kathrin Ludwig
    Clinical Genetics Unit, Department of Paediatrics Salus Pueri, University of Padua, Padua, Italy
  • Manuela Fortuna
    Paediatric Neurology Unit, Department of Paediatrics Salus Pueri, University of Padua, Padua, Italy
  • Cinzia Marzocchi
    Clinical Genetics Unit, Department of Paediatrics Salus Pueri, University of Padua, Padua, Italy
  • Milena Calderone
    Neuroradiology Unit, Department of Neurosciences, University of Padua, Padua, Italy
  • Irene Toldo
    Paediatric Neurology Unit, Department of Paediatrics Salus Pueri, University of Padua, Padua, Italy
  • Leonardo Salviati
    Neuroradiology Unit, Department of Neurosciences, University of Padua, Padua, Italy
  • Anna Maria Laverda
    Paediatric Neurology Unit, Department of Paediatrics Salus Pueri, University of Padua, Padua, Italy
  • Romano Tenconi
    Neuroradiology Unit, Department of Neurosciences, University of Padua, Padua, Italy

抄録

<jats:p> Joubert syndrome is a disorder characterized by ataxia, developmental delay, oculomotor anomalies, and breathing irregularities, with cerebellar vermian and midbrain dysgenesis. The molar tooth sign, reflecting the midbrain dysgenesis of Joubert syndrome, is the neuroradiological hallmark and is an essential sign in the identification of this condition. Variable vermian agenesis, an expanded fourth ventricle, and a large posterior cranial fossa with a normal brainstem are typical of Dandy-Walker malformation. The authors report a case in which a Dandy-Walker malformation coexisted with Joubert syndrome, but initially prevented the ‘‘molar tooth sign’’ from being recognized because of an important cystic dilatation of the fourth ventricle. In this article, they discuss the importance of the re-examination of brain magnetic resonance features after decompression of the posterior cranial fossa in a patient with Dandy-Walker malformation and additional clinical neurological or systemic abnormalities typical of Joubert syndrome, to not miss the correct diagnosis. </jats:p>

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