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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
- Descriptive term referring to abnormal morphology of cerebellum not associated with other known posterior fossa malformations, syndromes, or pathologic spectrums
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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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
- Descriptive term referring to abnormal morphology of cerebellum not associated with other known posterior fossa malformations, syndromes, or pathologic spectrums
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
