Skip to main content
SpringerLink
Log in

Posterior Fossa Malformations

  • Chapter
Perinatal Neuroradiology

Abstract

The development of the human cerebellum is one of the most complex processes within the embryonic and fetal brain. In the last years, advances in genetic molecular biology have drastically changed the classical description, giving new insight into cerebellar development [1–3].

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
eBook
USD 16.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 129.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 179.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Similar content being viewed by others

References

  1. Butts T, Green MJ, Wingate RJT (2014) Development of the cerebellum: simple steps to make a ‘little brain’. Development 141:4031–4041

    Article  CAS  PubMed  Google Scholar 

  2. Sotelo C (2004) Cellular and genetic regulation of the development of the cerebellar system. Prog Neurobiol 72:295–339

    Article  CAS  PubMed  Google Scholar 

  3. Wang VY, Zoghbi HY (2001) Genetic regulation of cerebellar development. Nat Rev Neurosci 2:484–491

    Article  CAS  PubMed  Google Scholar 

  4. Triulzi F, Parazzini C, Righini A (2005) MRI of fetal and neonatal cerebellar development. Semin Fetal Neonatal Med 10:411–420

    Google Scholar 

  5. Triulzi F, Parazzini C, Righini A (2006) Magnetic resonance imaging of fetal cerebellar development. Cerebellum 5:199–205

    Google Scholar 

  6. Adamsbaum C, Moutard ML, Andre C et al (2005) MRI of the fetal posterior fossa. Pediatr Radiol 35:124–140

    Article  PubMed  Google Scholar 

  7. Parisi MA, Dobyns WB (2003) Human malformations of the midbrain and hindbrain: review and proposed classification scheme. Mol Genet Metab 80:36–53

    Google Scholar 

  8. Ramaekers VT, Heimann G, Reul J, Thron A, Jaeken J (1997) Genetic disorders and cerebellar structural abnormalities in childhood. Brain 120:1739–1751

    Article  PubMed  Google Scholar 

  9. Patel S, Barkovich AJ (2002) Analysis classification of cerebellar malformations. AJNR Am J Neuroradiol 23:1074–1087

    Google Scholar 

  10. Tortori Donati P, Rossi A, Biancheri R (2005) Malformations of posterior cranial fossa. In: Tortori Donati P, Rossi A (eds) Pediatric neuroradiology. Springer, Berlin Heidelberg/New York, pp 138–171

    Chapter  Google Scholar 

  11. Chapman T, Mahalingam S, Ishak GE, Nixon JN, Siebert J, Dighe MK (2015) Diagnostic imaging of posterior fossa anomalies in the fetus and neonate: Part 1, normal anatomy and classification of anomalies. Clin Imaging 39:1–8

    Article  PubMed  Google Scholar 

  12. Barkovich AJ, Millen KJ, Dobyns WB (2007) A developmental classification of malformations of the brainstem. Ann Neurol 62:625–639

    Article  PubMed  Google Scholar 

  13. Barkovich AJ, Millen KJ, Dobyns WB (2009) A developmental and genetic classification for midbrain-hindbrain malformations. Brain 132:3199–3230

    Article  PubMed Central  PubMed  Google Scholar 

  14. Barkovich AJ (2012) Development disorders of the midbrain and hindbrain. Front Neuroanat 6:1–10

    Article  Google Scholar 

  15. Doherty D, Millen KJ, Barkovich AJ (2013) Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics. Lancet Neurol 12:381–393

    Article  PubMed Central  PubMed  Google Scholar 

  16. Robinson AJ, Blaser S, Toi A et al (2007) The fetal cerebellar vermis assessment for abnormal development by ultrasonography and magnetic resonance imaging. Ultrasound Q 23:211–223

    Article  PubMed  Google Scholar 

  17. Garel C, Fallet-Bianco C, Guibaud L (2011) The fetal cerebellum: development and common malformations. J Child Neurol 26:1483–1492

    Article  PubMed  Google Scholar 

  18. Soman S, Gruber GM, Prayer D, Atlas SW (2011) Fetal magnetic resonance imaging of the posterior fossa malformations. Top Magn Reson Imaging 22:271–281

    Article  PubMed  Google Scholar 

  19. Malinger G, Lev D, Lerman-Sagie T (2009) The fetal cerebellum. Pitfalls in diagnosis and management. Prenat Diagn 29:372–380

    Article  PubMed  Google Scholar 

  20. Shekdar K (2011) Posterior fossa malformations. Semin Ultrasound CT MRI 32:228–241

    Article  Google Scholar 

  21. Volpe P, Contro E, De Musso F et al (2012) Brainstem–vermis and brainstem–tentorium angles allow accurate categorization of fetal upward rotation of cerebellar vermis. Ultrasound Obstet Gynecol 39:632–635

    Article  CAS  PubMed  Google Scholar 

  22. Chapman T, Mahalingam S, Ishak GE, Nixon JN, Siebert J, Dighe MK (2015) Diagnostic imaging of posterior fossa anomalies in the fetus and neonate: part 2, posterior fossa disorders. Clin Imaging 39:167–175

    Google Scholar 

  23. Tortori-Donati P, Fondelli MP, Rossi A, Carini S (1996) Cystic malformations of the posterior cranial fossa originating from a defect of the posterior membranous area. Megacisterna magna and persisting Blake’s pouch: two separate entities. Childs Nerv Syst 12:303–308

    Google Scholar 

  24. Paladini D, Quarantelli M, Pastore G, Sorrentino M, Sglavo G, Nappi C (2012) Abnormal or delayed development of the posterior membranous area of the brain: anatomy, ultrasound diagnosis, natural history and outcome of Blake’s pouch cyst in the fetus. Ultrasound Obstet Gynecol 39:279–287

    Google Scholar 

  25. Strand RD, Barnes PD, Poussaint TY, Estroff JA, Burrows PE (1993) Cystic retrocerebellar malformations: unification of the Dandy–Walker complex and the Blake’s pouch cyst. Pediatr Radiol 23:258–260

    Article  CAS  PubMed  Google Scholar 

  26. Nelson MD Jr, Maher K, Gilles FH (2004) A different approach to cysts of the posterior fossa. Pediatr Radiol 34:720–732

    Article  PubMed  Google Scholar 

  27. O’Rahilly R, Muller F (2001) Human embryology and teratology. Wiley, New York

    Google Scholar 

  28. Brocklehurst G (1969) The development of the human cerebrospinal fluid pathway with particular reference to the roof of the fourth ventricle. J Anat 105:467–475

    PubMed Central  CAS  PubMed  Google Scholar 

  29. Takami H, Shin M, Kuroiwa M, Isoo A, Takahashi K, Saito N (2010) Hydrocephalus associated with cystic dilation of the foramina of Magendie and Luschka. J Neurosurg Pediatr 5:415–418

    Google Scholar 

  30. Shohoud SA, Azab WA, Alsheikh TM, Hegazy RM (2014) Blake’s pouch cyst and Werdnig-Hoffmann disease: report of a new association and review of the literature. Surg Neurol Int 5(Suppl 4):S282–S288

    PubMed Central  PubMed  Google Scholar 

  31. Wong AM, Bilaniuk LT, Zimmerman RA, Liu PL (2012) Prenatal MR imaging of Dandy-Walker complex: midline sagittal area analysis. Eur J Radiol 81:e26–e30

    Google Scholar 

  32. Limperopoulos C, Robertson RL, Estroff JA, Barnewolt C, Levine D, Bassan H, du Plessis AJ (2006) Diagnosis of inferior vermian hypoplasia by fetal magnetic resonance imaging: potential pitfalls and neurodevelopmental outcome. Am J Obstet Gynecol 194:1070–1076

    Google Scholar 

  33. Tarui T, Limperopoulos C, Sullivan NR, Robertson RL, du Plessis AJ (2014) Long-term developmental outcome of children with a fetal diagnosis of isolated inferior vermian hypoplasia. Arch Dis Child Fetal Neonatal Ed 99:F54–F58

    Google Scholar 

  34. Dandy W, Blackfan K (1914) Internal hydrocephalus: an experimental, clinical and pathological study. Am J Dis Child 406–482

    Google Scholar 

  35. Rumack CM, Drose JA (2005) Neonatal and infant brain imaging. In: Rumack CM, Wilson SR, Charboneau JW (eds) Diagnostic ultrasound, 3rd edn. Elsevier/Mosby, St. Louis, pp 1644–1647

    Google Scholar 

  36. Correa GG, Amaral LF, Vedolin LM (2011) Neuroimaging of Dandy-Walker malformation: new concepts. Top Magn Reson Imaging 22:303–312

    Google Scholar 

  37. Brasseur-Daudruy M, Vivier PH, Ickowicz V, Eurin D, Verspyck E (2012) Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound. Pediatr Radiol 42:488–490

    Google Scholar 

  38. Yazicioglu HF, Ocak Z (2010) Walker-Warburg syndrome with persistent hyperplastic primary vitreous detected by prenatal ultrasonography. Ultrasound Obstet Gynecol 35:247–249

    Google Scholar 

  39. Strigini F, Valleriani A, Cecchi M, Ghirri P, Aiello C, Bertini E, Cioni G, Battini R (2009) Prenatal ultrasound and magnetic resonance imaging features in a fetus with Walker-Warburg syndrome. Ultrasound Obstet Gynecol 33:363–365

    Google Scholar 

  40. Hong SE, Shugart YY, Huang DT et al (2000) Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet 26:93–96

    Article  CAS  PubMed  Google Scholar 

  41. Zaki M, Shehab M, El-Aleem AA et al (2007) Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. Am J Med Genet A 143A:939–944

    Article  CAS  PubMed  Google Scholar 

  42. Boycott KM, Flavelle S, Bureau A et al (2005) Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. Am J Hum Genet 77:477–483

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  43. Bahi-Buisson N, Poirier K, Fourniol F, Saillour Y, Valence S, Lebrun N, Hully M, Bianco CF, Boddaert N, Elie C, Lascelles K, Souville I, LIS-Tubulinopathies Consortium, Beldjord C, Chelly J (2014) The wide spectrum of tubulinopathies: what are the key features for the diagnosis? Brain 137:1676–1700

    Article  PubMed  Google Scholar 

  44. Ishak GE, Dempsey JC, Shaw DW et al (2012) Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. Brain 135:1370–1386

    Article  PubMed Central  PubMed  Google Scholar 

  45. Sukhudyan B, Jaladyan V, Melikyan G, Schlump JU, Boltshauser E, Poretti A (2010) Gomez-Lopez-Hernandez syndrome: reappraisal of the diagnostic criteria. Eur J Pediatr 169:1523–1528

    Article  PubMed  Google Scholar 

  46. Napolitano M, Righini A, Zirpoli S, Rustico M, Nicolini U, Triulzi F (2004) Prenatal magnetic resonance imaging of rhombencephalosynapsis and associated brain anomalies: report of 3 cases. J Comput Assist Tomogr 28:762–765

    Google Scholar 

  47. Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, Krägeloh-Mann I, De Meirleir L, King M, Graham JM Jr, von Moers A, Knoers N, Sztriha L, Korinthenberg R, PCH Consortium, Dobyns WB, Baas F, Poll-The BT (2011) Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain 134:143–156

    Google Scholar 

  48. Graham JM Jr, Spencer AH, Grinberg I, Niesen CE, Platt LD, Maya M, Namavar Y, Baas F, Dobyns WB (2010) Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible? Am J Med Genet A 152A(9):2268–2276

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  49. Leibovitz Z, Shkolnik C, Haratz KK, Malinger G, Shapiro I, Lerman-Sagie T (2014) Assessment of fetal midbrain and hindbrain in mid-sagittal cranial plane by three-dimensional multiplanar sonography. Part 2: application of normograms to fetuses with posterior fossa malformations. Ultrasound Obstet Gynecol 44:581–587

    Google Scholar 

  50. Poretti A, Huisman TA, Scheer I, Boltshauser E (2011) Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR Am J Neuroradiol 32:1459–1463

    Google Scholar 

  51. Fluss J, Blaser S, Chitayat D, Akoury H, Glanc P, Skidmore M, Raybaud C (2006) Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders. J Child Neurol 21:320–324

    Google Scholar 

  52. Saleem SN, Zaki MS (2010) Role of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disorders. AJNR Am J Neuroradiol 31:424–429

    Google Scholar 

  53. Saleem SN, Zaki MS, Soliman NA, Momtaz M (2011) Prenatal magnetic resonance imaging diagnosis of molar tooth sign at 17 to 18 weeks of gestation in two fetuses at risk for Joubert syndrome and related cerebellar disorders. Neuropediatrics 42:35–38

    Google Scholar 

  54. Poretti A, Vitiello G, Hennekam RC, Arrigoni F, Bertini E, Borgatti R, Brancati F, D’Arrigo S, Faravelli F, Giordano L, Huisman TA, Iannicelli M, Kluger G, Kyllerman M, Landgren M, Lees MM, Pinelli L, Romaniello R, Scheer I, Schwarz CE, Spiegel R, Tibussek D, Valente EM, Boltshauser E (2012) Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. Orphanet J Rare Dis 7:4

    Article  PubMed Central  PubMed  Google Scholar 

  55. Barth PG, Majoie CB, Caan MW, Weterman MA, Kyllerman M, Smit LM, Kaplan RA, Haas RH, Baas F, Cobben JM, Poll-The BT (2007) Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance. Brain 130:2258–2266

    Google Scholar 

  56. Zaki MS, Saleem SN, Dobyns WB, Barkovich AJ, Bartsch H, Dale AM, Ashtari M, Akizu N, Gleeson JG, Grijalvo-Perez AM (2012) Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation. Brain 135:2416–2427

    Article  PubMed Central  PubMed  Google Scholar 

  57. Moog U, Jones MC, Bird LM, Dobyns WB (2005) Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype. J Med Genet 42:913–921

    Google Scholar 

  58. Brugger PC, Arzt W, Prayer D (2007) Prenatal diagnosis of Delleman syndrome. Prenat Diagn 27:356–361

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Neuroradiology, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy

    Fabio Triulzi

  2. Department of Neuroradiology, IRCCS Ospedale San Raffaele, Milan, Italy

    Cristina Baldoli

  3. Department of Pediatric Radiology and Neuroradiology, Ospedale dei Bambini Vittore Buzzi, Istituti Clinici di Perfezionamento, Milan, Italy

    Cecilia Parazzini & Andrea Righini

  4. Department of Radiology, Tepecik Education and Research Hospital, Izmir, Turkey

    Özgur Öztekin

Authors
  1. Fabio Triulzi
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Cristina Baldoli
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Cecilia Parazzini
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Özgur Öztekin
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Andrea Righini
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Fabio Triulzi .

Rights and permissions

Reprints and permissions

Copyright information

© 2016 Springer-Verlag Italia

About this chapter

Cite this chapter

Triulzi, F., Baldoli, C., Parazzini, C., Öztekin, Ö., Righini, A. (2016). Posterior Fossa Malformations. In: Perinatal Neuroradiology. Springer, Milano. https://doi.org/10.1007/978-88-470-5325-0_3

Download citation

  • DOI: https://doi.org/10.1007/978-88-470-5325-0_3

  • Publisher Name: Springer, Milano

  • Print ISBN: 978-88-470-5324-3

  • Online ISBN: 978-88-470-5325-0

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation