INTRODUCTION: New variations of cerebellar malformations are being increasingly recognized using modern neuroimaging techniques. Until now only dorsal cerebellar fusion syndromes, such as the rhombencephalosynapsis and its variations have been recognized. CASE REPORT: We report on a 17-month-old male infant presenting with an exceptional hindbrain related malformation characterized by midline fusion of the cerebellar hemispheres ventral to the brainstem and causing symptoms due to brainstem compression. DISCUSSION AND CONCLUSION: A more detailed understanding of the cerebellar embryogenesis is required to unravel the underlying mechanisms leading to this type of cerebellar malformation, which cannot easily be integrated into the common classification systems. Both the morphological features and the clinical presentation are different from those of other cerebellar structural abnormalities. If this type of congenital malformation is detected more frequently in the future, it seems reasonable that it should be added to the list of cerebellar malformations as a distinct type.
INTRODUCTION: New variations of cerebellar malformations are being increasingly recognized using modern neuroimaging techniques. Until now only dorsal cerebellar fusion syndromes, such as the rhombencephalosynapsis and its variations have been recognized. CASE REPORT: We report on a 17-month-old male infant presenting with an exceptional hindbrain related malformation characterized by midline fusion of the cerebellar hemispheres ventral to the brainstem and causing symptoms due to brainstem compression. DISCUSSION AND CONCLUSION: A more detailed understanding of the cerebellar embryogenesis is required to unravel the underlying mechanisms leading to this type of cerebellar malformation, which cannot easily be integrated into the common classification systems. Both the morphological features and the clinical presentation are different from those of other cerebellar structural abnormalities. If this type of congenital malformation is detected more frequently in the future, it seems reasonable that it should be added to the list of cerebellar malformations as a distinct type.
Authors: P G Barth; G Blennow; H G Lenard; J H Begeer; J M van der Kley; F Hanefeld; A C Peters; J Valk Journal: Neurology Date: 1995-02 Impact factor: 9.910
Authors: F Démurger; L Pasquier; C Dubourg; V Dupé; I Gicquel; C Evain; L Ratié; S Jaillard; M Beri; B Leheup; J Lespinasse; D Martin-Coignard; S Mercier; C Quelin; P Loget; P Marcorelles; A Laquerrière; C Bendavid; S Odent; V David Journal: Mol Syndromol Date: 2013-08-01
Authors: Kimberly A Aldinger; Jennifer C Dempsey; Hannah M Tully; Megan E Grout; Michele G Mehaffey; William B Dobyns; Dan Doherty Journal: Am J Med Genet C Semin Med Genet Date: 2018-12 Impact factor: 3.908
Authors: Gisele E Ishak; Jennifer C Dempsey; Dennis W W Shaw; Hannah Tully; Margaret P Adam; Pedro A Sanchez-Lara; Ian Glass; Tessa C Rue; Kathleen J Millen; William B Dobyns; Dan Doherty Journal: Brain Date: 2012-03-26 Impact factor: 13.501
Authors: Hannah M Tully; Jennifer C Dempsey; Gisele E Ishak; Margaret P Adam; Cynthia J R Curry; Pedro Sanchez-Lara; Alasdair Hunter; Karen W Gripp; Judith Allanson; Christopher Cunniff; Ian Glass; Kathleen J Millen; Daniel Doherty; William B Dobyns Journal: Am J Med Genet A Date: 2012-09-10 Impact factor: 2.802