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Alobar Holoprosencephaly
Anne Kennedy, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Definitions

                • Alobar holoprosencephaly (ALHPE)
                  • Most severe form of holoprosencephaly (HPE)
                  • Complete/nearly complete lack of separation of cerebral hemispheres (i.e., no lobes)

              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. Abe Y et al: Nationwide epidemiological survey of holoprosencephaly in Japan. Pediatr Int. 62(5):593-9, 2020
                                        2. El-Dessouky SH et al: Prenatal ultrasound findings of holoprosencephaly spectrum: unusual associations. Prenat Diagn. 40(5):565-76, 2020
                                        3. Mzoughi S et al: PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly. Sci Adv. 6(2):eaax9852, 2020
                                        4. De Franco E et al: A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development. Am J Hum Genet. 104(5):985-9, 2019
                                        5. Kruszka P et al: A CCR4-NOT transcription complex, subunit 1, CNOT1, variant associated with holoprosencephaly. Am J Hum Genet. 104(5):990-3, 2019
                                        6. Meagher S et al: Alobar holoprosencephaly detected in a 9-week embryo. Am J Obstet Gynecol. 221(1):73-4, 2019
                                        7. Syngelaki A et al: Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13weeks' gestation. Ultrasound Obstet Gynecol. 54(4):468-76, 2019
                                        8. Syngelaki A et al: Impact of holoprosencephaly, exomphalos, megacystis and increased nuchal translucency on first-trimester screening for chromosomal abnormalities. Ultrasound Obstet Gynecol. 50(1):45-8, 2017
                                        9. Griffiths PD et al: In utero MR imaging of fetal holoprosencephaly: a structured approach to diagnosis and classification. AJNR Am J Neuroradiol. 37(3):536-43, 2016
                                        10. Kaliaperumal C et al: Holoprosencephaly: antenatal and postnatal diagnosis and outcome. Childs Nerv Syst. 32(5):801-9, 2016
                                        11. Winter TC et al: Holoprosencephaly: a survey of the entity, with embryology and fetal imaging. Radiographics. 35(1):275-90, 2015
                                        12. Hahn JS et al: Neuroimaging advances in holoprosencephaly: refining the spectrum of the midline malformation. Am J Med Genet C Semin Med Genet. 154C(1):120-32, 2010
                                        13. Marcorelles P et al: Neuropathology of holoprosencephaly. Am J Med Genet C Semin Med Genet. 154C(1):109-19, 2010
                                        14. Bardo DME. Pediatric neuroradiology, part 1: embryologic basis for brain malformation. Applied Radiology. 38(7):29-40, 2009
                                        15. Blaas HG et al: Sonoembryology and early prenatal diagnosis of neural anomalies. Prenat Diagn. 29(4):312-25, 2009
                                        16. Mighell AS et al: Post-natal investigations: management and prognosis for fetuses with CNS anomalies identified in utero excluding neurosurgical problems. Prenat Diagn. 29(4):442-9, 2009
                                        17. Volpe P et al: Disorders of prosencephalic development. Prenat Diagn. 29(4):340-54, 2009
                                        18. Encha-Razavi F et al: A practical approach to the examination of the malformed fetal brain: impact on genetic counselling. Pathology. 40(2):180-7, 2008
                                        19. Timor-Tritsch IE et al: Three-dimensional inversion rendering in the first- and early second-trimester fetal brain: its use in holoprosencephaly. Ultrasound Obstet Gynecol. 32(6):744-50, 2008
                                        20. Barkovich AJ: Congenital malformations of the brain and skull. In Pediatric Neuroimaging. 291-439, 2005
                                        21. Aguilella C et al: Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations. Hum Genet. 112(2):131-4, 2003
                                        22. Chen CP et al: Molecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis. Prenat Diagn. 22(1):5-7, 2002
                                        23. Kjaer I et al: Midline skeletodental morphology in holoprosencephaly. Cleft Palate Craniofac J. 39(3):357-63, 2002
                                        24. Jeng LB et al: Genetic advances in central nervous system malformations in the fetus and neonate. Semin Pediatr Neurol. 8(2):89-99, 2001
                                        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

                                                      • Alobar holoprosencephaly (ALHPE)
                                                        • Most severe form of holoprosencephaly (HPE)
                                                        • Complete/nearly complete lack of separation of cerebral hemispheres (i.e., no lobes)

                                                    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. Abe Y et al: Nationwide epidemiological survey of holoprosencephaly in Japan. Pediatr Int. 62(5):593-9, 2020
                                                                              2. El-Dessouky SH et al: Prenatal ultrasound findings of holoprosencephaly spectrum: unusual associations. Prenat Diagn. 40(5):565-76, 2020
                                                                              3. Mzoughi S et al: PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly. Sci Adv. 6(2):eaax9852, 2020
                                                                              4. De Franco E et al: A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development. Am J Hum Genet. 104(5):985-9, 2019
                                                                              5. Kruszka P et al: A CCR4-NOT transcription complex, subunit 1, CNOT1, variant associated with holoprosencephaly. Am J Hum Genet. 104(5):990-3, 2019
                                                                              6. Meagher S et al: Alobar holoprosencephaly detected in a 9-week embryo. Am J Obstet Gynecol. 221(1):73-4, 2019
                                                                              7. Syngelaki A et al: Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13weeks' gestation. Ultrasound Obstet Gynecol. 54(4):468-76, 2019
                                                                              8. Syngelaki A et al: Impact of holoprosencephaly, exomphalos, megacystis and increased nuchal translucency on first-trimester screening for chromosomal abnormalities. Ultrasound Obstet Gynecol. 50(1):45-8, 2017
                                                                              9. Griffiths PD et al: In utero MR imaging of fetal holoprosencephaly: a structured approach to diagnosis and classification. AJNR Am J Neuroradiol. 37(3):536-43, 2016
                                                                              10. Kaliaperumal C et al: Holoprosencephaly: antenatal and postnatal diagnosis and outcome. Childs Nerv Syst. 32(5):801-9, 2016
                                                                              11. Winter TC et al: Holoprosencephaly: a survey of the entity, with embryology and fetal imaging. Radiographics. 35(1):275-90, 2015
                                                                              12. Hahn JS et al: Neuroimaging advances in holoprosencephaly: refining the spectrum of the midline malformation. Am J Med Genet C Semin Med Genet. 154C(1):120-32, 2010
                                                                              13. Marcorelles P et al: Neuropathology of holoprosencephaly. Am J Med Genet C Semin Med Genet. 154C(1):109-19, 2010
                                                                              14. Bardo DME. Pediatric neuroradiology, part 1: embryologic basis for brain malformation. Applied Radiology. 38(7):29-40, 2009
                                                                              15. Blaas HG et al: Sonoembryology and early prenatal diagnosis of neural anomalies. Prenat Diagn. 29(4):312-25, 2009
                                                                              16. Mighell AS et al: Post-natal investigations: management and prognosis for fetuses with CNS anomalies identified in utero excluding neurosurgical problems. Prenat Diagn. 29(4):442-9, 2009
                                                                              17. Volpe P et al: Disorders of prosencephalic development. Prenat Diagn. 29(4):340-54, 2009
                                                                              18. Encha-Razavi F et al: A practical approach to the examination of the malformed fetal brain: impact on genetic counselling. Pathology. 40(2):180-7, 2008
                                                                              19. Timor-Tritsch IE et al: Three-dimensional inversion rendering in the first- and early second-trimester fetal brain: its use in holoprosencephaly. Ultrasound Obstet Gynecol. 32(6):744-50, 2008
                                                                              20. Barkovich AJ: Congenital malformations of the brain and skull. In Pediatric Neuroimaging. 291-439, 2005
                                                                              21. Aguilella C et al: Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations. Hum Genet. 112(2):131-4, 2003
                                                                              22. Chen CP et al: Molecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis. Prenat Diagn. 22(1):5-7, 2002
                                                                              23. Kjaer I et al: Midline skeletodental morphology in holoprosencephaly. Cleft Palate Craniofac J. 39(3):357-63, 2002
                                                                              24. Jeng LB et al: Genetic advances in central nervous system malformations in the fetus and neonate. Semin Pediatr Neurol. 8(2):89-99, 2001