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Hydranencephaly
Anne M. Kennedy, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Definitions

                • Destruction of cerebral hemispheres

              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. Cecchetto G et al: Looking at the missing brain: hydranencephaly case series and literature review. Pediatr Neurol. 48(2):152-8, 2013
                                        2. Ghosh PS et al: Fetal magnetic resonance imaging in hydranencephaly. J Paediatr Child Health. 49(4):335-6, 2013
                                        3. Sepulveda W et al: Prenatal sonography in hydranencephaly: findings during the early stages of disease. J Ultrasound Med. 31(5):799-804, 2012
                                        4. Meyer E et al: Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). Am J Hum Genet. 86(3):471-8, 2010
                                        5. Thomas S et al: High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy. Hum Mutat. 31(10):1134-41, 2010
                                        6. Vaneckova M et al: Post-mortem magnetic resonance imaging and its irreplaceable role in determining CNS malformation (hydranencephaly)--case report. Brain Dev. 32(5):417-20, 2010
                                        7. Bae JS et al: Prolonged survival to adulthood of an individual with hydranencephaly. Clin Neurol Neurosurg. 110(3):307-9, 2008
                                        8. Merker B: Life expectancy in hydranencephaly. Clin Neurol Neurosurg. 110(3):213-4, 2008
                                        9. Quek YW et al: Hydranencephaly associated with interruption of bilateral internal carotid arteries. Pediatr Neonatol. 49(2):43-7, 2008
                                        10. Tsai JD et al: Hydranencephaly in neonates. Pediatr Neonatol. 49(4):154-7, 2008
                                        11. Watts P et al: Chorioretinal dysplasia, hydranencephaly, and intracranial calcifications: pseudo-TORCH or a new syndrome? Eye (Lond). 22(5):730-3, 2008
                                        12. Werth R: Cerebral blindness and plasticity of the visual system in children. A review of visual capacities in patients with occipital lesions, hemispherectomy or hydranencephaly. Restor Neurol Neurosci. 26(4-5):377-89, 2008
                                        13. Jordan L et al: CT angiography in a newborn child with hydranencephaly. J Perinatol. 24(9):565-7, 2004
                                        14. Covington C et al: Prolonged survival in hydranencephaly: a case report. Tenn Med. 96(9):423-4, 2003
                                        15. Hahn JS et al: Hydranencephaly owing to twin-twin transfusion: serial fetal ultrasonography and magnetic resonance imaging findings. J Child Neurol. 18(5):367-70, 2003
                                        16. Laurichesse-Delmas H et al: First-trimester features of Fowler syndrome (hydrocephaly-hydranencephaly proliferative vasculopathy). Ultrasound Obstet Gynecol. 20(6):612-5, 2002
                                        17. Wellons JC 3rd et al: Choroid plexectomy reduces neurosurgical intervention in patients with hydranencephaly. Pediatr Neurosurg. 36(3):148-52, 2002
                                        18. Greco F et al: Hemihydranencephaly: case report and literature review. J Child Neurol. 16(3):218-21, 2001
                                        19. Stevenson DA et al: Hydranencephaly in an infant with vascular malformations. Am J Med Genet. 104(4):295-8, 2001
                                        20. Kavaslar GN et al: The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1. Am J Hum Genet. 66(5):1705-9, 2000
                                        21. Lam YH et al: Serial sonographic features of a fetus with hydranencephaly from 11 weeks to term. Ultrasound Obstet Gynecol. 16(1):77-9, 2000
                                        Related Anatomy
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                                        Related Differential Diagnoses
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                                        References
                                        Tables

                                        Tables

                                        KEY FACTS

                                        • Terminology

                                          • Imaging

                                            • Top Differential Diagnoses

                                              • Pathology

                                                • Clinical Issues

                                                  • Diagnostic Checklist

                                                    TERMINOLOGY

                                                    • Definitions

                                                      • Destruction of cerebral hemispheres

                                                    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. Cecchetto G et al: Looking at the missing brain: hydranencephaly case series and literature review. Pediatr Neurol. 48(2):152-8, 2013
                                                                              2. Ghosh PS et al: Fetal magnetic resonance imaging in hydranencephaly. J Paediatr Child Health. 49(4):335-6, 2013
                                                                              3. Sepulveda W et al: Prenatal sonography in hydranencephaly: findings during the early stages of disease. J Ultrasound Med. 31(5):799-804, 2012
                                                                              4. Meyer E et al: Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). Am J Hum Genet. 86(3):471-8, 2010
                                                                              5. Thomas S et al: High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy. Hum Mutat. 31(10):1134-41, 2010
                                                                              6. Vaneckova M et al: Post-mortem magnetic resonance imaging and its irreplaceable role in determining CNS malformation (hydranencephaly)--case report. Brain Dev. 32(5):417-20, 2010
                                                                              7. Bae JS et al: Prolonged survival to adulthood of an individual with hydranencephaly. Clin Neurol Neurosurg. 110(3):307-9, 2008
                                                                              8. Merker B: Life expectancy in hydranencephaly. Clin Neurol Neurosurg. 110(3):213-4, 2008
                                                                              9. Quek YW et al: Hydranencephaly associated with interruption of bilateral internal carotid arteries. Pediatr Neonatol. 49(2):43-7, 2008
                                                                              10. Tsai JD et al: Hydranencephaly in neonates. Pediatr Neonatol. 49(4):154-7, 2008
                                                                              11. Watts P et al: Chorioretinal dysplasia, hydranencephaly, and intracranial calcifications: pseudo-TORCH or a new syndrome? Eye (Lond). 22(5):730-3, 2008
                                                                              12. Werth R: Cerebral blindness and plasticity of the visual system in children. A review of visual capacities in patients with occipital lesions, hemispherectomy or hydranencephaly. Restor Neurol Neurosci. 26(4-5):377-89, 2008
                                                                              13. Jordan L et al: CT angiography in a newborn child with hydranencephaly. J Perinatol. 24(9):565-7, 2004
                                                                              14. Covington C et al: Prolonged survival in hydranencephaly: a case report. Tenn Med. 96(9):423-4, 2003
                                                                              15. Hahn JS et al: Hydranencephaly owing to twin-twin transfusion: serial fetal ultrasonography and magnetic resonance imaging findings. J Child Neurol. 18(5):367-70, 2003
                                                                              16. Laurichesse-Delmas H et al: First-trimester features of Fowler syndrome (hydrocephaly-hydranencephaly proliferative vasculopathy). Ultrasound Obstet Gynecol. 20(6):612-5, 2002
                                                                              17. Wellons JC 3rd et al: Choroid plexectomy reduces neurosurgical intervention in patients with hydranencephaly. Pediatr Neurosurg. 36(3):148-52, 2002
                                                                              18. Greco F et al: Hemihydranencephaly: case report and literature review. J Child Neurol. 16(3):218-21, 2001
                                                                              19. Stevenson DA et al: Hydranencephaly in an infant with vascular malformations. Am J Med Genet. 104(4):295-8, 2001
                                                                              20. Kavaslar GN et al: The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1. Am J Hum Genet. 66(5):1705-9, 2000
                                                                              21. Lam YH et al: Serial sonographic features of a fetus with hydranencephaly from 11 weeks to term. Ultrasound Obstet Gynecol. 16(1):77-9, 2000