Spectrum of cortical malformation caused by arrested or ↓ transmantle neuronal migration
Agyria, pachygyria, & subcortical band heterotopia
Most updated classification is based on combination of involved stage of neuronal migration & genetic information
Tubulinopathies: Secondary to genetic mutations coding microtubule-associated proteins (MAPs: DCX, LIS1) or tubulins (TUBA & TUBB groups)
Includes classic (a.k.a. type I) lissencephalies: Thick 4-layer cortex with cell-sparse zone
Variant lissencephalies: ARX & RELN mutations
Variable cortical thickness with no cell-sparse zone
Abnormalities of neuronal proliferation (microlissencephaly, microcephaly with simplified gyral pattern, megalencephalies) & dystroglycanopathies (cobblestone malformations, previously type II lissencephaly) are described in separate categories
However, there is phenotypic & genetic overlap with congenital microcephaly & tubulinopathies
IMAGING
General Features
CT Findings
MR Findings
Ultrasonographic Findings
Nuclear Medicine Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Reporting Tips
Selected References
Kolbjer S et al: Lissencephaly in an epilepsy cohort: molecular, radiological and clinical aspects. Eur J Paediatr Neurol. 30:71-81, 2021
Lerman-Sagie T et al: A practical approach to prenatal diagnosis of malformations of cortical development. Eur J Paediatr Neurol. 34:50-61, 2021
Di Donato N et al: Lissencephaly: expanded imaging and clinical classification. Am J Med Genet A. 173(6):1473-88, 2017
Desikan RS et al: Malformations of cortical development. Ann Neurol. 80(6):797-810, 2016
Barkovich AJ et al: Malformations of cortical development and epilepsy. Cold Spring Harb Perspect Med. 5(5):a022392, 2015
Kato M: Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias. Front Neurosci. 9:181, 2015
Fry AE et al: The genetics of lissencephaly. Am J Med Genet C Semin Med Genet. 166C(2):198-210, 2014
Bahi-Buisson N et al: New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum. Brain. 136(Pt 1):223-44, 2013
Barkovich AJ et al: Pediatric Neuroimaging. 6th ed. Wolters Kluwer. 460-71, 2019
Barkovich AJ et al: A developmental and genetic classification for malformations of cortical development: update 2012. Brain. 135(Pt 5):1348-69, 2012
Toba S et al: A unique role of dynein and nud family proteins in corticogenesis. Neuropathology. 32(4):432-9, 2012
Alkuraya FS et al: Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. Am J Hum Genet. 2011 May 13;88(5):536-47. Epub 2011 Apr 28. Erratum in: Am J Hum Genet. 88(5):677, 2011
Jansen AC et al: TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria. Neurology. 76(11):988-92, 2011
Abdel Razek AA et al: Disorders of cortical formation: MR imaging features. AJNR Am J Neuroradiol. 30(1):4-11, 2009
Reiner O et al: Lissencephaly 1 linking to multiple diseases: mental retardation, neurodegeneration, schizophrenia, male sterility, and more. Neuromolecular Med. 8(4):547-65, 2006
Pfund Z et al: Lissencephaly: fetal pattern of glucose metabolism on positron emission tomography? Neurology. 55(11):1683-8, 2000
Related Anatomy
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Definitions
Spectrum of cortical malformation caused by arrested or ↓ transmantle neuronal migration
Agyria, pachygyria, & subcortical band heterotopia
Most updated classification is based on combination of involved stage of neuronal migration & genetic information
Tubulinopathies: Secondary to genetic mutations coding microtubule-associated proteins (MAPs: DCX, LIS1) or tubulins (TUBA & TUBB groups)
Includes classic (a.k.a. type I) lissencephalies: Thick 4-layer cortex with cell-sparse zone
Variant lissencephalies: ARX & RELN mutations
Variable cortical thickness with no cell-sparse zone
Abnormalities of neuronal proliferation (microlissencephaly, microcephaly with simplified gyral pattern, megalencephalies) & dystroglycanopathies (cobblestone malformations, previously type II lissencephaly) are described in separate categories
However, there is phenotypic & genetic overlap with congenital microcephaly & tubulinopathies
IMAGING
General Features
CT Findings
MR Findings
Ultrasonographic Findings
Nuclear Medicine Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Reporting Tips
Selected References
Kolbjer S et al: Lissencephaly in an epilepsy cohort: molecular, radiological and clinical aspects. Eur J Paediatr Neurol. 30:71-81, 2021
Lerman-Sagie T et al: A practical approach to prenatal diagnosis of malformations of cortical development. Eur J Paediatr Neurol. 34:50-61, 2021
Di Donato N et al: Lissencephaly: expanded imaging and clinical classification. Am J Med Genet A. 173(6):1473-88, 2017
Desikan RS et al: Malformations of cortical development. Ann Neurol. 80(6):797-810, 2016
Barkovich AJ et al: Malformations of cortical development and epilepsy. Cold Spring Harb Perspect Med. 5(5):a022392, 2015
Kato M: Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias. Front Neurosci. 9:181, 2015
Fry AE et al: The genetics of lissencephaly. Am J Med Genet C Semin Med Genet. 166C(2):198-210, 2014
Bahi-Buisson N et al: New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum. Brain. 136(Pt 1):223-44, 2013
Barkovich AJ et al: Pediatric Neuroimaging. 6th ed. Wolters Kluwer. 460-71, 2019
Barkovich AJ et al: A developmental and genetic classification for malformations of cortical development: update 2012. Brain. 135(Pt 5):1348-69, 2012
Toba S et al: A unique role of dynein and nud family proteins in corticogenesis. Neuropathology. 32(4):432-9, 2012
Alkuraya FS et al: Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. Am J Hum Genet. 2011 May 13;88(5):536-47. Epub 2011 Apr 28. Erratum in: Am J Hum Genet. 88(5):677, 2011
Jansen AC et al: TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria. Neurology. 76(11):988-92, 2011
Abdel Razek AA et al: Disorders of cortical formation: MR imaging features. AJNR Am J Neuroradiol. 30(1):4-11, 2009
Reiner O et al: Lissencephaly 1 linking to multiple diseases: mental retardation, neurodegeneration, schizophrenia, male sterility, and more. Neuromolecular Med. 8(4):547-65, 2006
Pfund Z et al: Lissencephaly: fetal pattern of glucose metabolism on positron emission tomography? Neurology. 55(11):1683-8, 2000
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