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Brain
Diagnosis
Pathology-Based Diagnoses
Congenital Malformations
Hindbrain Malformations
Cerebellar Hypoplasia
Cerebellar Hypoplasia
Usha D. Nagaraj, MD; Surjith Vattoth, MD, FRCR
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          TERMINOLOGY

          • Synonyms

            • Microcerebellum, cerebellar hypogenesis

          • Definitions

            • Spectrum of malformative or disruptive conditions
              • There can be overlap
            • Characterized by ↓ or disorganized growth, injury, or ↑ apoptosis

          IMAGING

          • General Features

            • CT Findings

              • MR Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Staging, Grading, & Classification

                        • Gross Pathologic & Surgical Features

                          • Microscopic Features

                            CLINICAL ISSUES

                            • Presentation

                              • Demographics

                                • Natural History & Prognosis

                                  • Treatment

                                    DIAGNOSTIC CHECKLIST

                                    • Consider

                                      • Image Interpretation Pearls

                                        Selected References

                                        1. Gao SS et al: [Two cases with lissencephaly associated cerebellar hypoplasia related to RELN variation.] Zhonghua Er Ke Za Zhi. 58(3):238-40, 2020
                                        2. Saugier-Veber P et al: Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B. Eur J Med Genet. 63(4):103814, 2020
                                        3. Shaikh M et al: Unilateral cerebellar hypoplasia: a rare cause of childhood seizures. J Pediatr Neurosci. 14(4):236-7, 2019
                                        4. Bosemani T et al: Congenital abnormalities of the posterior fossa. Radiographics. 35(1):200-20, 2015
                                        5. Poretti A et al: Differential diagnosis of cerebellar atrophy in childhood: an update. Neuropediatrics. 46(6):359-70, 2015
                                        6. Adachi Y et al: Posterior fossa in primary microcephaly: relationships between forebrain and mid-hindbrain size in 110 patients. Neuropediatrics. 45(2):93-101, 2014
                                        7. Bahi-Buisson N et al: The wide spectrum of tubulinopathies: what are the key features for the diagnosis? Brain. 137(Pt 6):1676-700, 2014
                                        8. Poretti A et al: Cerebellar hypoplasia: differential diagnosis and diagnostic approach. Am J Med Genet C Semin Med Genet. 166(2):211-26, 2014
                                        9. Doherty D et al: Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics. Lancet Neurol. 12(4):381-93, 2013
                                        10. González G et al: Location of periventricular nodular heterotopia is related to the malformation phenotype on MRI. AJNR Am J Neuroradiol. 34(4):877-83, 2013
                                        11. Massoud M et al: Prenatal unilateral cerebellar hypoplasia in a series of 26 cases: significance and implications for prenatal diagnosis. Ultrasound Obstet Gynecol. 44(4):447-54, 2013
                                        12. Tam EW: Potential mechanisms of cerebellar hypoplasia in prematurity. Neuroradiology. 55 Suppl 2:41-6, 2013
                                        13. Pisano T et al: Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis. Neurology. 79(12):1244-51, 2012
                                        14. Ventura P et al: Mental retardation and epilepsy in patients with isolated cerebellar hypoplasia. J Child Neurol. 21(9):776-81, 2006
                                        15. Adamsbaum C et al: MRI of the fetal posterior fossa. Pediatr Radiol. 35(2):124-40, 2005
                                        16. Glass HC et al: Autosomal recessive cerebellar hypoplasia in the Hutterite population. Dev Med Child Neurol. 47(10):691-5, 2005
                                        17. Messerschmidt A et al: Disruption of cerebellar development: potential complication of extreme prematurity. AJNR Am J Neuroradiol. 26(7):1659-67, 2005
                                        18. Ozgen HM et al: Cerebellar hypoplasia-endosteal sclerosis: a long term follow-up. Am J Med Genet A. 134(2):215-9, 2005
                                        19. Yapici Z et al: Non-progressive congenital ataxia with cerebellar hypoplasia in three families. Acta Paediatr. 94(2):248-53, 2005
                                        20. Boltshauser E. Related Articles et al: Cerebellum-small brain but large confusion: a review of selected cerebellar malformations and disruptions. Am J Med Genet A. 126(4):376-85, 2004
                                        21. Soto Ares G et al: [Cerebellar cortical dysplasia: MRI aspects and significance] J Radiol. 85(6 Pt 1):729-40, 2004
                                        22. Soto-Ares G: Analysis and classification of cerebellar malformations. AJNR Am J Neuroradiol. 24(1):153; author reply 153, 2003
                                        23. Wassmer E et al: Clinical spectrum associated with cerebellar hypoplasia. Pediatr Neurol. 28(5):347-51, 2003
                                        24. Boltshauser E et al: Vanishing cerebellum in myelomeningocoele. Eur J Paediatr Neurol. 6(2):109-13, 2002
                                        25. Patel S et al: Analysis and classification of cerebellar malformations. AJNR Am J Neuroradiol. 23(7):1074-87, 2002
                                        26. Ramaekers VT et al: Genetic disorders and cerebellar structural abnormalities in childhood. Brain. 120 ( Pt 10):1739-51, 1997
                                        27. al Shahwan SA et al: Non-progressive familial congenital cerebellar hypoplasia. J Neurol Sci. 128(1):71-7, 1995
                                        28. Boycott KM et al: VLDLR Cerebellar Hypoplasia 1993
                                        Related Anatomy
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                                        Related Differential Diagnoses
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                                        References
                                        Tables

                                        Tables

                                        KEY FACTS

                                        • Terminology

                                          • Imaging

                                            • Top Differential Diagnoses

                                              • Clinical Issues

                                                TERMINOLOGY

                                                • Synonyms

                                                  • Microcerebellum, cerebellar hypogenesis

                                                • Definitions

                                                  • Spectrum of malformative or disruptive conditions
                                                    • There can be overlap
                                                  • Characterized by ↓ or disorganized growth, injury, or ↑ apoptosis

                                                IMAGING

                                                • General Features

                                                  • CT Findings

                                                    • MR Findings

                                                      • Imaging Recommendations

                                                        DIFFERENTIAL DIAGNOSIS

                                                          PATHOLOGY

                                                          • General Features

                                                            • Staging, Grading, & Classification

                                                              • Gross Pathologic & Surgical Features

                                                                • Microscopic Features

                                                                  CLINICAL ISSUES

                                                                  • Presentation

                                                                    • Demographics

                                                                      • Natural History & Prognosis

                                                                        • Treatment

                                                                          DIAGNOSTIC CHECKLIST

                                                                          • Consider

                                                                            • Image Interpretation Pearls

                                                                              Selected References

                                                                              1. Gao SS et al: [Two cases with lissencephaly associated cerebellar hypoplasia related to RELN variation.] Zhonghua Er Ke Za Zhi. 58(3):238-40, 2020
                                                                              2. Saugier-Veber P et al: Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B. Eur J Med Genet. 63(4):103814, 2020
                                                                              3. Shaikh M et al: Unilateral cerebellar hypoplasia: a rare cause of childhood seizures. J Pediatr Neurosci. 14(4):236-7, 2019
                                                                              4. Bosemani T et al: Congenital abnormalities of the posterior fossa. Radiographics. 35(1):200-20, 2015
                                                                              5. Poretti A et al: Differential diagnosis of cerebellar atrophy in childhood: an update. Neuropediatrics. 46(6):359-70, 2015
                                                                              6. Adachi Y et al: Posterior fossa in primary microcephaly: relationships between forebrain and mid-hindbrain size in 110 patients. Neuropediatrics. 45(2):93-101, 2014
                                                                              7. Bahi-Buisson N et al: The wide spectrum of tubulinopathies: what are the key features for the diagnosis? Brain. 137(Pt 6):1676-700, 2014
                                                                              8. Poretti A et al: Cerebellar hypoplasia: differential diagnosis and diagnostic approach. Am J Med Genet C Semin Med Genet. 166(2):211-26, 2014
                                                                              9. Doherty D et al: Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics. Lancet Neurol. 12(4):381-93, 2013
                                                                              10. González G et al: Location of periventricular nodular heterotopia is related to the malformation phenotype on MRI. AJNR Am J Neuroradiol. 34(4):877-83, 2013
                                                                              11. Massoud M et al: Prenatal unilateral cerebellar hypoplasia in a series of 26 cases: significance and implications for prenatal diagnosis. Ultrasound Obstet Gynecol. 44(4):447-54, 2013
                                                                              12. Tam EW: Potential mechanisms of cerebellar hypoplasia in prematurity. Neuroradiology. 55 Suppl 2:41-6, 2013
                                                                              13. Pisano T et al: Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis. Neurology. 79(12):1244-51, 2012
                                                                              14. Ventura P et al: Mental retardation and epilepsy in patients with isolated cerebellar hypoplasia. J Child Neurol. 21(9):776-81, 2006
                                                                              15. Adamsbaum C et al: MRI of the fetal posterior fossa. Pediatr Radiol. 35(2):124-40, 2005
                                                                              16. Glass HC et al: Autosomal recessive cerebellar hypoplasia in the Hutterite population. Dev Med Child Neurol. 47(10):691-5, 2005
                                                                              17. Messerschmidt A et al: Disruption of cerebellar development: potential complication of extreme prematurity. AJNR Am J Neuroradiol. 26(7):1659-67, 2005
                                                                              18. Ozgen HM et al: Cerebellar hypoplasia-endosteal sclerosis: a long term follow-up. Am J Med Genet A. 134(2):215-9, 2005
                                                                              19. Yapici Z et al: Non-progressive congenital ataxia with cerebellar hypoplasia in three families. Acta Paediatr. 94(2):248-53, 2005
                                                                              20. Boltshauser E. Related Articles et al: Cerebellum-small brain but large confusion: a review of selected cerebellar malformations and disruptions. Am J Med Genet A. 126(4):376-85, 2004
                                                                              21. Soto Ares G et al: [Cerebellar cortical dysplasia: MRI aspects and significance] J Radiol. 85(6 Pt 1):729-40, 2004
                                                                              22. Soto-Ares G: Analysis and classification of cerebellar malformations. AJNR Am J Neuroradiol. 24(1):153; author reply 153, 2003
                                                                              23. Wassmer E et al: Clinical spectrum associated with cerebellar hypoplasia. Pediatr Neurol. 28(5):347-51, 2003
                                                                              24. Boltshauser E et al: Vanishing cerebellum in myelomeningocoele. Eur J Paediatr Neurol. 6(2):109-13, 2002
                                                                              25. Patel S et al: Analysis and classification of cerebellar malformations. AJNR Am J Neuroradiol. 23(7):1074-87, 2002
                                                                              26. Ramaekers VT et al: Genetic disorders and cerebellar structural abnormalities in childhood. Brain. 120 ( Pt 10):1739-51, 1997
                                                                              27. al Shahwan SA et al: Non-progressive familial congenital cerebellar hypoplasia. J Neurol Sci. 128(1):71-7, 1995
                                                                              28. Boycott KM et al: VLDLR Cerebellar Hypoplasia 1993