link
Bookmarks
Lissencephaly
Usha D. Nagaraj, MD
To access 4,300 diagnoses written by the world's leading experts in radiology, please log in or subscribe.Log inSubscribe
0
2
2
0

KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Definitions

              • Spectrum of cortical malformation caused by abnormal transmantle neuronal migration
                • Includes agyria, pachygyria, and subcortical band heterotopia
              • Most updated classification is based on combination of involved stage of neuronal migration and genetic information
                • Tubulinopathies: Secondary to mutations coding microtubule-associated proteins (MAPs): DCX, LIS1, or tubulins (TUBA genes)
                  • Includes classic (a.k.a. type 1) lissencephalies: Thick, 4-layer cortex with cell-sparse zone
                • Variant lissencephalies: ARX and RELN mutations
                  • Slightly less thick cortex with no cell-sparse zone
              • Abnormalities of neuronal proliferation (microlissencephaly, microcephaly with simplified gyral pattern, megalencephalies) and dystroglycanopathies (cobblestone malformations, previously type II lissencephaly) are described in separate categories
                • However, there is phenotypic and genetic overlap with microcephaly and tubulin mutations

            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

                                          1. Desikan RS et al: Malformations of cortical development. Ann Neurol. 80(6):797-810, 2016
                                          2. Barkovich AJ et al: Malformations of cortical development and epilepsy. Cold Spring Harb Perspect Med. 5(5):a022392, 2015
                                          3. Kato M: Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias. Front Neurosci. 9:181, 2015
                                          4. Fry AE et al: The genetics of lissencephaly. Am J Med Genet C Semin Med Genet. 166C(2):198-210, 2014
                                          5. Bahi-Buisson N et al: New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum. Brain. 136(Pt 1):223-44, 2013
                                          6. Barkovich AJ et al: Pediatric Neuroimaging. 5th ed. Philadelphia: Lippincott Williams & Wilkins. 419-429, 2012
                                          7. Barkovich AJ et al: A developmental and genetic classification for malformations of cortical development: update 2012. Brain. 135(Pt 5):1348-69, 2012
                                          8. Toba S et al: A unique role of dynein and nud family proteins in corticogenesis. Neuropathology. 32(4):432-9, 2012
                                          9. 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
                                          10. Jansen AC et al: TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria. Neurology. 76(11):988-92, 2011
                                          11. Abdel Razek AA et al: Disorders of cortical formation: MR imaging features. AJNR Am J Neuroradiol. 30(1):4-11, 2009
                                          12. 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
                                          13. Pfund Z et al: Lissencephaly: fetal pattern of glucose metabolism on positron emission tomography? Neurology. 55(11):1683-8, 2000
                                          Related Anatomy
                                          Loading...
                                          Related Differential Diagnoses
                                          Loading...
                                          References
                                          Tables

                                          Tables

                                          KEY FACTS

                                          • Terminology

                                            • Imaging

                                              • Top Differential Diagnoses

                                                • Pathology

                                                  • Clinical Issues

                                                    TERMINOLOGY

                                                    • Definitions

                                                      • Spectrum of cortical malformation caused by abnormal transmantle neuronal migration
                                                        • Includes agyria, pachygyria, and subcortical band heterotopia
                                                      • Most updated classification is based on combination of involved stage of neuronal migration and genetic information
                                                        • Tubulinopathies: Secondary to mutations coding microtubule-associated proteins (MAPs): DCX, LIS1, or tubulins (TUBA genes)
                                                          • Includes classic (a.k.a. type 1) lissencephalies: Thick, 4-layer cortex with cell-sparse zone
                                                        • Variant lissencephalies: ARX and RELN mutations
                                                          • Slightly less thick cortex with no cell-sparse zone
                                                      • Abnormalities of neuronal proliferation (microlissencephaly, microcephaly with simplified gyral pattern, megalencephalies) and dystroglycanopathies (cobblestone malformations, previously type II lissencephaly) are described in separate categories
                                                        • However, there is phenotypic and genetic overlap with microcephaly and tubulin mutations

                                                    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

                                                                                  1. Desikan RS et al: Malformations of cortical development. Ann Neurol. 80(6):797-810, 2016
                                                                                  2. Barkovich AJ et al: Malformations of cortical development and epilepsy. Cold Spring Harb Perspect Med. 5(5):a022392, 2015
                                                                                  3. Kato M: Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias. Front Neurosci. 9:181, 2015
                                                                                  4. Fry AE et al: The genetics of lissencephaly. Am J Med Genet C Semin Med Genet. 166C(2):198-210, 2014
                                                                                  5. Bahi-Buisson N et al: New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum. Brain. 136(Pt 1):223-44, 2013
                                                                                  6. Barkovich AJ et al: Pediatric Neuroimaging. 5th ed. Philadelphia: Lippincott Williams & Wilkins. 419-429, 2012
                                                                                  7. Barkovich AJ et al: A developmental and genetic classification for malformations of cortical development: update 2012. Brain. 135(Pt 5):1348-69, 2012
                                                                                  8. Toba S et al: A unique role of dynein and nud family proteins in corticogenesis. Neuropathology. 32(4):432-9, 2012
                                                                                  9. 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
                                                                                  10. Jansen AC et al: TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria. Neurology. 76(11):988-92, 2011
                                                                                  11. Abdel Razek AA et al: Disorders of cortical formation: MR imaging features. AJNR Am J Neuroradiol. 30(1):4-11, 2009
                                                                                  12. 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
                                                                                  13. Pfund Z et al: Lissencephaly: fetal pattern of glucose metabolism on positron emission tomography? Neurology. 55(11):1683-8, 2000