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Gray Matter Heterotopia
Anne Kennedy, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Gray matter heterotopia (GMH)
            • Definitions

              • Abnormal location of nerve cells (in nodular or laminar distribution) between cortex and lateral ventricles
                • Subependymal/periventricular: Nodular or linear areas along ventricular lining
                • Subcortical: Nodules extend from ventricular surface into hemispheric white matter
                • Band/double cortex: Layer of gray matter between ventricles and cortex (a.k.a. double cortex)

            IMAGING

            • Ultrasonographic Findings

              • MR Findings

                DIFFERENTIAL DIAGNOSIS

                  PATHOLOGY

                  • General Features

                    CLINICAL ISSUES

                    • Natural History & Prognosis

                      DIAGNOSTIC CHECKLIST

                      • Consider

                        • Image Interpretation Pearls

                          Selected References

                          1. Maurice P et al: New insights in cerebral findings associated with fetal myelomeningocele: a retrospective cohort study in a single tertiary centre. BJOG. 128(2):376-83, 2021
                          2. Oegema R et al: Subcortical heterotopic gray matter brain malformations: classification study of 107 individuals. Neurology. 93(14):e1360-73, 2019
                          3. Deloison B et al: Prenatally diagnosed periventricular nodular heterotopia: further delineation of the imaging phenotype and outcome. Eur J Med Genet. 61(12):773-82, 2018
                          4. Elbracht M et al: Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures. Mol Genet Genomic Med. 6(6):1255-60, 2018
                          5. Nagaraj UD et al: Evaluation of subependymal gray matter heterotopias on fetal MRI. AJNR Am J Neuroradiol. 37(4):720-5, 2016
                          6. Teixeira SR et al: Association of periventricular nodular heterotopia with posterior fossa cyst: a prenatal case series. Prenat Diagn. 35(4):337-41, 2015
                          7. Watrin F et al: Causes and consequences of gray matter heterotopia. CNS Neurosci Ther. 21(2):112-22, 2015
                          8. Abe Y et al: Bilateral periventricular nodular heterotopia with megalencephaly: a case report. J Child Neurol. 29(6):818-22, 2014
                          9. Zając-Mnich M et al: Clinical and morphological aspects of gray matter heterotopia type developmental malformations. Pol J Radiol. 79:502-7, 2014
                          10. Baas AF et al: Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome. Eur J Hum Genet. 21(1):55-61, 2013
                          11. Manganaro L et al: Bilateral subependymal heterotopia, ventriculomegaly and cerebellar asymmetry: fetal MRI findings of a rare association of brain anomalies. J Radiol Case Rep. 7(11):38-45, 2013
                          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

                                  • Diagnostic Checklist

                                    TERMINOLOGY

                                    • Abbreviations

                                      • Gray matter heterotopia (GMH)
                                    • Definitions

                                      • Abnormal location of nerve cells (in nodular or laminar distribution) between cortex and lateral ventricles
                                        • Subependymal/periventricular: Nodular or linear areas along ventricular lining
                                        • Subcortical: Nodules extend from ventricular surface into hemispheric white matter
                                        • Band/double cortex: Layer of gray matter between ventricles and cortex (a.k.a. double cortex)

                                    IMAGING

                                    • Ultrasonographic Findings

                                      • MR Findings

                                        DIFFERENTIAL DIAGNOSIS

                                          PATHOLOGY

                                          • General Features

                                            CLINICAL ISSUES

                                            • Natural History & Prognosis

                                              DIAGNOSTIC CHECKLIST

                                              • Consider

                                                • Image Interpretation Pearls

                                                  Selected References

                                                  1. Maurice P et al: New insights in cerebral findings associated with fetal myelomeningocele: a retrospective cohort study in a single tertiary centre. BJOG. 128(2):376-83, 2021
                                                  2. Oegema R et al: Subcortical heterotopic gray matter brain malformations: classification study of 107 individuals. Neurology. 93(14):e1360-73, 2019
                                                  3. Deloison B et al: Prenatally diagnosed periventricular nodular heterotopia: further delineation of the imaging phenotype and outcome. Eur J Med Genet. 61(12):773-82, 2018
                                                  4. Elbracht M et al: Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures. Mol Genet Genomic Med. 6(6):1255-60, 2018
                                                  5. Nagaraj UD et al: Evaluation of subependymal gray matter heterotopias on fetal MRI. AJNR Am J Neuroradiol. 37(4):720-5, 2016
                                                  6. Teixeira SR et al: Association of periventricular nodular heterotopia with posterior fossa cyst: a prenatal case series. Prenat Diagn. 35(4):337-41, 2015
                                                  7. Watrin F et al: Causes and consequences of gray matter heterotopia. CNS Neurosci Ther. 21(2):112-22, 2015
                                                  8. Abe Y et al: Bilateral periventricular nodular heterotopia with megalencephaly: a case report. J Child Neurol. 29(6):818-22, 2014
                                                  9. Zając-Mnich M et al: Clinical and morphological aspects of gray matter heterotopia type developmental malformations. Pol J Radiol. 79:502-7, 2014
                                                  10. Baas AF et al: Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome. Eur J Hum Genet. 21(1):55-61, 2013
                                                  11. Manganaro L et al: Bilateral subependymal heterotopia, ventriculomegaly and cerebellar asymmetry: fetal MRI findings of a rare association of brain anomalies. J Radiol Case Rep. 7(11):38-45, 2013