Descriptive term referring to abnormal morphology of cerebellum not associated with other known posterior fossa malformations, syndromes, or pathologic spectrums
Excludes Dandy-Walker spectrum, Lhermitte-Duclos disease, rhombencephalosynapsis, Joubert syndrome and related disorders (JSRD) (a.k.a. molar tooth malformations), dystroglycanopathies, described genetic or nongenetic syndromes involving cerebellum and brainstem (e.g., PHACES, tubulinopathies, pontocerebellar hypoplasia)
Excludes infectious (e.g., cytomegalovirus), metabolic etiologies (including inherited, e.g., congenital disorders of glycosylation-1a), or sequelae of perinatal insult/injury (included infarct, hemorrhage, trauma)
Includes malformations and disruptions
Global findings suggest malformation
Focal findings suggest disruptive lesion
IMAGING
General Features
CT Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
Associated Findings
Causes
CLINICAL ISSUES
Presentation
DIAGNOSTIC CHECKLIST
Consider
Reporting Tips
Selected References
Bosemani T et al: Congenital abnormalities of the posterior fossa. Radiographics. 35(1):200-20, 2015
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, 2014
Poretti A et al: Cerebellar hypoplasia: differential diagnosis and diagnostic approach. Am J Med Genet C Semin Med Genet. 166(2):211-26, 2014
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
Sajan SA et al: Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. PLoS Genet. 9(10):e1003823, 2013
Massoud M et al: Prenatal diagnosis of cerebellar cortical dysplasia associated with abnormalities of foliation. Ultrasound Obstet Gynecol. 40(2):243-4, 2012
Pereira ER et al: Cerebellar cortical dysplasia, chronic headache, and tremor in Proteus syndrome. Arq Neuropsiquiatr. 70(3):236, 2012
Bolduc ME et al: Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review. Dev Med Child Neurol. 51(4):256-67, 2009
Poretti A et al: Cerebellar cleft: a form of prenatal cerebellar disruption. Neuropediatrics. 39(2):106-12, 2008
Demaerel P: Abnormalities of cerebellar foliation and fissuration: classification, neurogenetics and clinicoradiological correlations. Neuroradiology. 44(8):639-46, 2002
Soto-Ares G et al: Cerebellar cortical dysplasia: MR findings in a complex entity. AJNR Am J Neuroradiol. 21(8):1511-9, 2000
Barkovich AJ: Neuroimaging manifestations and classification of congenital muscular dystrophies. AJNR Am J Neuroradiol. 19(8):1389-96, 1998
Demaerel P et al: MR of cerebellar cortical dysplasia. AJNR Am J Neuroradiol. 19(5):984-6, 1998
Rorke LB et al: Cerebellar heterotopia in infancy. J Neuropathol Exp Neurol. 27(1):140-1, 1968
Related Anatomy
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Related Differential Diagnoses
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Synonyms
Cerebellar polymicrogyria, cerebellar heterotaxia
Definitions
Descriptive term referring to abnormal morphology of cerebellum not associated with other known posterior fossa malformations, syndromes, or pathologic spectrums
Excludes Dandy-Walker spectrum, Lhermitte-Duclos disease, rhombencephalosynapsis, Joubert syndrome and related disorders (JSRD) (a.k.a. molar tooth malformations), dystroglycanopathies, described genetic or nongenetic syndromes involving cerebellum and brainstem (e.g., PHACES, tubulinopathies, pontocerebellar hypoplasia)
Excludes infectious (e.g., cytomegalovirus), metabolic etiologies (including inherited, e.g., congenital disorders of glycosylation-1a), or sequelae of perinatal insult/injury (included infarct, hemorrhage, trauma)
Includes malformations and disruptions
Global findings suggest malformation
Focal findings suggest disruptive lesion
IMAGING
General Features
CT Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
Associated Findings
Causes
CLINICAL ISSUES
Presentation
DIAGNOSTIC CHECKLIST
Consider
Reporting Tips
Selected References
Bosemani T et al: Congenital abnormalities of the posterior fossa. Radiographics. 35(1):200-20, 2015
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, 2014
Poretti A et al: Cerebellar hypoplasia: differential diagnosis and diagnostic approach. Am J Med Genet C Semin Med Genet. 166(2):211-26, 2014
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
Sajan SA et al: Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. PLoS Genet. 9(10):e1003823, 2013
Massoud M et al: Prenatal diagnosis of cerebellar cortical dysplasia associated with abnormalities of foliation. Ultrasound Obstet Gynecol. 40(2):243-4, 2012
Pereira ER et al: Cerebellar cortical dysplasia, chronic headache, and tremor in Proteus syndrome. Arq Neuropsiquiatr. 70(3):236, 2012
Bolduc ME et al: Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review. Dev Med Child Neurol. 51(4):256-67, 2009
Poretti A et al: Cerebellar cleft: a form of prenatal cerebellar disruption. Neuropediatrics. 39(2):106-12, 2008
Demaerel P: Abnormalities of cerebellar foliation and fissuration: classification, neurogenetics and clinicoradiological correlations. Neuroradiology. 44(8):639-46, 2002
Soto-Ares G et al: Cerebellar cortical dysplasia: MR findings in a complex entity. AJNR Am J Neuroradiol. 21(8):1511-9, 2000
Barkovich AJ: Neuroimaging manifestations and classification of congenital muscular dystrophies. AJNR Am J Neuroradiol. 19(8):1389-96, 1998
Demaerel P et al: MR of cerebellar cortical dysplasia. AJNR Am J Neuroradiol. 19(5):984-6, 1998
Rorke LB et al: Cerebellar heterotopia in infancy. J Neuropathol Exp Neurol. 27(1):140-1, 1968
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