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Encephalomalacia, Porencephaly
Anne Kennedy, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Definitions

              • Encephalomalacia
                • Regional brain parenchymal damage
              • Porencephaly
                • Focal cavitary lesion in communication with ventricle

            IMAGING

            • General Features

              • Ultrasonographic Findings

                • MR Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Gross Pathologic & Surgical Features

                          CLINICAL ISSUES

                          • Presentation

                            • Demographics

                              • Natural History & Prognosis

                                • Treatment

                                  DIAGNOSTIC CHECKLIST

                                  • Consider

                                    • Image Interpretation Pearls

                                      Selected References

                                      1. Lanna MM et al: Incidence of cerebral injury in monochorionic twin survivors after spontaneous single demise: long-term outcome of a large cohort. Fetal Diagn Ther. 47(1):66-73, 2020
                                      2. Conte G et al: Brain-injured survivors of monochorionic twin pregnancies complicated by single intrauterine death: MR findings in a multicenter study. Radiology. 288(2):582-90, 2018
                                      3. Kirkham FJ et al: Fetal stroke and cerebrovascular disease: advances in understanding from lenticulostriate and venous imaging, alloimmune thrombocytopaenia and monochorionic twins. Eur J Paediatr Neurol. 22(6):989-1005, 2018
                                      4. Novak CM et al: Perinatal brain injury: mechanisms, prevention, and outcomes. Clin Perinatol. 45(2):357-5, 2018
                                      5. Durrani-Kolarik S et al: COL4A1 mutation in a neonate with intrauterine stroke and anterior segment dysgenesis. Pediatr Neurol. 66:100-3, 2017
                                      6. Lee HF et al: Prenatal brain disruption in isolated sulfite oxidase deficiency. Orphanet J Rare Dis. 12(1):115, 2017
                                      7. McGovern M et al: Novel COL4A2 variant in a large pedigree: consequences and dilemmas. Clin Genet. 92(4):447-8, 2017
                                      8. Giorgio E et al: Two families with novel missense mutations in COL4A1: when diagnosis can be missed. J Neurol Sci. 352(1-2):99-104, 2015
                                      9. Takenouchi T et al: Porencephaly in a fetus and HANAC in her father: variable expression of COL4A1 mutation. Am J Med Genet A. 167A(1):156-8, 2015
                                      10. Williams T et al: Antenatal diagnosis of intracranial haemorrhage and porencephalic cyst. BMJ Case Rep. 2015, 2015
                                      11. Colin E et al: Fetal intracerebral hemorrhage and cataract: think COL4A1. J Perinatol. 34(1):75-7, 2014
                                      12. Spruijt M et al: Cerebral injury in twin-twin transfusion syndrome treated with fetoscopic laser surgery. Obstet Gynecol. 120(1):15-20, 2012
                                      13. Vanderbilt DL et al: Prevalence and risk factors of cerebral lesions in neonates after laser surgery for twin-twin transfusion syndrome. Am J Obstet Gynecol. 207(4):320.e1-6, 2012
                                      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

                                                • Definitions

                                                  • Encephalomalacia
                                                    • Regional brain parenchymal damage
                                                  • Porencephaly
                                                    • Focal cavitary lesion in communication with ventricle

                                                IMAGING

                                                • General Features

                                                  • Ultrasonographic Findings

                                                    • MR Findings

                                                      • Imaging Recommendations

                                                        DIFFERENTIAL DIAGNOSIS

                                                          PATHOLOGY

                                                          • General Features

                                                            • Gross Pathologic & Surgical Features

                                                              CLINICAL ISSUES

                                                              • Presentation

                                                                • Demographics

                                                                  • Natural History & Prognosis

                                                                    • Treatment

                                                                      DIAGNOSTIC CHECKLIST

                                                                      • Consider

                                                                        • Image Interpretation Pearls

                                                                          Selected References

                                                                          1. Lanna MM et al: Incidence of cerebral injury in monochorionic twin survivors after spontaneous single demise: long-term outcome of a large cohort. Fetal Diagn Ther. 47(1):66-73, 2020
                                                                          2. Conte G et al: Brain-injured survivors of monochorionic twin pregnancies complicated by single intrauterine death: MR findings in a multicenter study. Radiology. 288(2):582-90, 2018
                                                                          3. Kirkham FJ et al: Fetal stroke and cerebrovascular disease: advances in understanding from lenticulostriate and venous imaging, alloimmune thrombocytopaenia and monochorionic twins. Eur J Paediatr Neurol. 22(6):989-1005, 2018
                                                                          4. Novak CM et al: Perinatal brain injury: mechanisms, prevention, and outcomes. Clin Perinatol. 45(2):357-5, 2018
                                                                          5. Durrani-Kolarik S et al: COL4A1 mutation in a neonate with intrauterine stroke and anterior segment dysgenesis. Pediatr Neurol. 66:100-3, 2017
                                                                          6. Lee HF et al: Prenatal brain disruption in isolated sulfite oxidase deficiency. Orphanet J Rare Dis. 12(1):115, 2017
                                                                          7. McGovern M et al: Novel COL4A2 variant in a large pedigree: consequences and dilemmas. Clin Genet. 92(4):447-8, 2017
                                                                          8. Giorgio E et al: Two families with novel missense mutations in COL4A1: when diagnosis can be missed. J Neurol Sci. 352(1-2):99-104, 2015
                                                                          9. Takenouchi T et al: Porencephaly in a fetus and HANAC in her father: variable expression of COL4A1 mutation. Am J Med Genet A. 167A(1):156-8, 2015
                                                                          10. Williams T et al: Antenatal diagnosis of intracranial haemorrhage and porencephalic cyst. BMJ Case Rep. 2015, 2015
                                                                          11. Colin E et al: Fetal intracerebral hemorrhage and cataract: think COL4A1. J Perinatol. 34(1):75-7, 2014
                                                                          12. Spruijt M et al: Cerebral injury in twin-twin transfusion syndrome treated with fetoscopic laser surgery. Obstet Gynecol. 120(1):15-20, 2012
                                                                          13. Vanderbilt DL et al: Prevalence and risk factors of cerebral lesions in neonates after laser surgery for twin-twin transfusion syndrome. Am J Obstet Gynecol. 207(4):320.e1-6, 2012