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Hydranencephaly
Anne Kennedy, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            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. Akutsu N et al: Management and problems of prolonged survival with hydranencephaly in the modern treatment era. Childs Nerv Syst. 36(6):1239-43, 2020
                                      2. Mba SE et al: An unusual presentation of bobble-head doll syndrome in a patient with hydranencephaly and Chiari 3 malformation. Childs Nerv Syst. 35(5):879-82, 2019
                                      3. Omar AT 2nd et al: Hydranencephaly complicated by central diabetes insipidus: report of two cases and systematic review of literature. Childs Nerv Syst. 5(7):1165-71, 2019
                                      4. Rawlins LE et al: An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia. Eur J Hum Genet. 27(4):657-62, 2019
                                      5. Kline-Fath BM et al: Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus. Pediatr Radiol. 48(7):1032-4, 2018
                                      6. Radio FC et al: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: report of a family and insight into the disease's mechanism. Mol Genet Genomic Med. 6(3):446-451, 2018
                                      7. Pedrosa HAR et al: Choroid plexus cauterization on treatment of hydranencephaly and maximal hydrocephalus. Childs Nerv Syst. 33(9):1509-16, 2017
                                      8. Kvarnung M et al: Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy. Clin Genet. 89(1):99-103, 2016
                                      9. Cecchetto G et al: Looking at the missing brain: hydranencephaly case series and literature review. Pediatr Neurol. 48(2):152-8, 2013
                                      10. Ghosh PS et al: Fetal magnetic resonance imaging in hydranencephaly. J Paediatr Child Health. 49(4):335-6, 2013
                                      11. Sepulveda W et al: Prenatal sonography in hydranencephaly: findings during the early stages of disease. J Ultrasound Med. 31(5):799-804, 2012
                                      12. 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
                                      13. 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
                                      14. 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
                                      15. Bae JS et al: Prolonged survival to adulthood of an individual with hydranencephaly. Clin Neurol Neurosurg. 110(3):307-9, 2008
                                      16. Merker B: Life expectancy in hydranencephaly. Clin Neurol Neurosurg. 110(3):213-4, 2008
                                      17. Quek YW et al: Hydranencephaly associated with interruption of bilateral internal carotid arteries. Pediatr Neonatol. 49(2):43-7, 2008
                                      18. Tsai JD et al: Hydranencephaly in neonates. Pediatr Neonatol. 49(4):154-7, 2008
                                      19. Watts P et al: Chorioretinal dysplasia, hydranencephaly, and intracranial calcifications: pseudo-TORCH or a new syndrome? Eye (Lond). 22(5):730-3, 2008
                                      20. 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
                                      21. Laurichesse-Delmas H et al: First-trimester features of Fowler syndrome (hydrocephaly-hydranencephaly proliferative vasculopathy). Ultrasound Obstet Gynecol. 20(6):612-5, 2002
                                      22. Greco F et al: Hemihydranencephaly: case report and literature review. J Child Neurol. 16(3):218-21, 2001
                                      23. Stevenson DA et al: Hydranencephaly in an infant with vascular malformations. Am J Med Genet. 104(4):295-8, 2001
                                      24. 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
                                      25. 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

                                                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. Akutsu N et al: Management and problems of prolonged survival with hydranencephaly in the modern treatment era. Childs Nerv Syst. 36(6):1239-43, 2020
                                                                          2. Mba SE et al: An unusual presentation of bobble-head doll syndrome in a patient with hydranencephaly and Chiari 3 malformation. Childs Nerv Syst. 35(5):879-82, 2019
                                                                          3. Omar AT 2nd et al: Hydranencephaly complicated by central diabetes insipidus: report of two cases and systematic review of literature. Childs Nerv Syst. 5(7):1165-71, 2019
                                                                          4. Rawlins LE et al: An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia. Eur J Hum Genet. 27(4):657-62, 2019
                                                                          5. Kline-Fath BM et al: Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus. Pediatr Radiol. 48(7):1032-4, 2018
                                                                          6. Radio FC et al: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: report of a family and insight into the disease's mechanism. Mol Genet Genomic Med. 6(3):446-451, 2018
                                                                          7. Pedrosa HAR et al: Choroid plexus cauterization on treatment of hydranencephaly and maximal hydrocephalus. Childs Nerv Syst. 33(9):1509-16, 2017
                                                                          8. Kvarnung M et al: Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy. Clin Genet. 89(1):99-103, 2016
                                                                          9. Cecchetto G et al: Looking at the missing brain: hydranencephaly case series and literature review. Pediatr Neurol. 48(2):152-8, 2013
                                                                          10. Ghosh PS et al: Fetal magnetic resonance imaging in hydranencephaly. J Paediatr Child Health. 49(4):335-6, 2013
                                                                          11. Sepulveda W et al: Prenatal sonography in hydranencephaly: findings during the early stages of disease. J Ultrasound Med. 31(5):799-804, 2012
                                                                          12. 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
                                                                          13. 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
                                                                          14. 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
                                                                          15. Bae JS et al: Prolonged survival to adulthood of an individual with hydranencephaly. Clin Neurol Neurosurg. 110(3):307-9, 2008
                                                                          16. Merker B: Life expectancy in hydranencephaly. Clin Neurol Neurosurg. 110(3):213-4, 2008
                                                                          17. Quek YW et al: Hydranencephaly associated with interruption of bilateral internal carotid arteries. Pediatr Neonatol. 49(2):43-7, 2008
                                                                          18. Tsai JD et al: Hydranencephaly in neonates. Pediatr Neonatol. 49(4):154-7, 2008
                                                                          19. Watts P et al: Chorioretinal dysplasia, hydranencephaly, and intracranial calcifications: pseudo-TORCH or a new syndrome? Eye (Lond). 22(5):730-3, 2008
                                                                          20. 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
                                                                          21. Laurichesse-Delmas H et al: First-trimester features of Fowler syndrome (hydrocephaly-hydranencephaly proliferative vasculopathy). Ultrasound Obstet Gynecol. 20(6):612-5, 2002
                                                                          22. Greco F et al: Hemihydranencephaly: case report and literature review. J Child Neurol. 16(3):218-21, 2001
                                                                          23. Stevenson DA et al: Hydranencephaly in an infant with vascular malformations. Am J Med Genet. 104(4):295-8, 2001
                                                                          24. 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
                                                                          25. 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