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Holoprosencephalies
Usha D. Nagaraj, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Holoprosencephaly (HPE)
              • Middle interhemispheric variant (MIH)
            • Definitions

              • Spectrum of congenital forebrain malformations characterized by failure of differentiation & midline cleavage of prosencephalon
              • Traditionally, classic HPE divided into alobar, semilobar, & lobar subtypes (due to failure of ventral induction)
              • MIH or syntelencephaly generally accepted as subtype of HPE (due to failure of dorsal induction)
              • Represents continuum of forebrain malformations without clear distinction between different subtypes

            IMAGING

            • General Features

              • Radiographic Findings

                • CT Findings

                  • MR Findings

                    • Ultrasonographic Findings

                      • Angiographic Findings

                        • Imaging Recommendations

                          DIFFERENTIAL DIAGNOSIS

                            PATHOLOGY

                            • General Features

                              • Staging, Grading, & Classification

                                • Gross Pathologic & Surgical Features

                                  CLINICAL ISSUES

                                  • Presentation

                                    • Demographics

                                      • Natural History & Prognosis

                                        • Treatment

                                          DIAGNOSTIC CHECKLIST

                                          • Consider

                                            • Image Interpretation Pearls

                                              Selected References

                                              1. Winter TC et al: Holoprosencephaly: a survey of the entity, with embryology and fetal imaging. Radiographics. 35(1):275-90, 2015
                                              2. Barkovich AJ, Raybaud C. Pediatric Neuroimaging. 5th edition. Philadelphia, PA. Lippincott Williams & Wilkins. 445-67, 2012
                                              3. Dupé V et al: NOTCH, a new signaling pathway implicated in holoprosencephaly. Hum Mol Genet. 20(6):1122-31, 2011
                                              4. Levey EB et al: Management of children with holoprosencephaly. Am J Med Genet C Semin Med Genet. 154C(1):183-90, 2010
                                              5. Miller EA et al: Risk factors for non-syndromic holoprosencephaly in the National Birth Defects Prevention Study. Am J Med Genet C Semin Med Genet. 154C(1):62-72, 2010
                                              6. Posada M et al: Clinical image. Middle interhemispheric variant of holoprosencephaly. Pediatr Radiol. 40(11):1843, 2010
                                              7. Solomon BD et al: Analysis of genotype-phenotype correlations in human holoprosencephaly. Am J Med Genet C Semin Med Genet. 154C(1):133-41, 2010
                                              8. Viana Eda S et al: Solitary median maxillary central incisor syndrome and holoprosencephaly: a case report. Pediatr Dent. 32(5):424-7, 2010
                                              9. Byun CK et al: MR angiography of a 1-year-old girl with semilobar holoprosencephaly. AJNR Am J Neuroradiol. 30(4):E56, 2009
                                              10. Hayashi M et al: Neuropathological evaluation of the diencephalon, basal ganglia and upper brainstem in alobar holoprosencephaly. Acta Neuropathol. 107(3):190-6, 2004
                                              11. Pulitzer SB et al: Prenatal MR findings of the middle interhemispheric variant of holoprosencephaly. AJNR Am J Neuroradiol. 25(6):1034-6, 2004
                                              12. Barkovich AJ et al: Analysis of the cerebral cortex in holoprosencephaly with attention to the sylvian fissures. AJNR Am J Neuroradiol. 23(1):143-50, 2002
                                              13. Blaas HG et al: Brains and faces in holoprosencephaly: pre- and postnatal description of 30 cases. Ultrasound Obstet Gynecol. 19(1):24-38, 2002
                                              14. Simon EM et al: The middle interhemispheric variant of holoprosencephaly. AJNR Am J Neuroradiol. 23(1):151-6, 2002
                                              15. Simon EM et al: The dorsal cyst in holoprosencephaly and the role of the thalamus in its formation. Neuroradiology. 43(9):787-91, 2001
                                              16. Barkovich AJ et al. Middle interhemispheric fusion: an unusual variant of holoprosencephaly. AJNR Am J Neuroradiol, 14:431-40, 1993
                                              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

                                                        • Abbreviations

                                                          • Holoprosencephaly (HPE)
                                                          • Middle interhemispheric variant (MIH)
                                                        • Definitions

                                                          • Spectrum of congenital forebrain malformations characterized by failure of differentiation & midline cleavage of prosencephalon
                                                          • Traditionally, classic HPE divided into alobar, semilobar, & lobar subtypes (due to failure of ventral induction)
                                                          • MIH or syntelencephaly generally accepted as subtype of HPE (due to failure of dorsal induction)
                                                          • Represents continuum of forebrain malformations without clear distinction between different subtypes

                                                        IMAGING

                                                        • General Features

                                                          • Radiographic Findings

                                                            • CT Findings

                                                              • MR Findings

                                                                • Ultrasonographic Findings

                                                                  • Angiographic Findings

                                                                    • Imaging Recommendations

                                                                      DIFFERENTIAL DIAGNOSIS

                                                                        PATHOLOGY

                                                                        • General Features

                                                                          • Staging, Grading, & Classification

                                                                            • Gross Pathologic & Surgical Features

                                                                              CLINICAL ISSUES

                                                                              • Presentation

                                                                                • Demographics

                                                                                  • Natural History & Prognosis

                                                                                    • Treatment

                                                                                      DIAGNOSTIC CHECKLIST

                                                                                      • Consider

                                                                                        • Image Interpretation Pearls

                                                                                          Selected References

                                                                                          1. Winter TC et al: Holoprosencephaly: a survey of the entity, with embryology and fetal imaging. Radiographics. 35(1):275-90, 2015
                                                                                          2. Barkovich AJ, Raybaud C. Pediatric Neuroimaging. 5th edition. Philadelphia, PA. Lippincott Williams & Wilkins. 445-67, 2012
                                                                                          3. Dupé V et al: NOTCH, a new signaling pathway implicated in holoprosencephaly. Hum Mol Genet. 20(6):1122-31, 2011
                                                                                          4. Levey EB et al: Management of children with holoprosencephaly. Am J Med Genet C Semin Med Genet. 154C(1):183-90, 2010
                                                                                          5. Miller EA et al: Risk factors for non-syndromic holoprosencephaly in the National Birth Defects Prevention Study. Am J Med Genet C Semin Med Genet. 154C(1):62-72, 2010
                                                                                          6. Posada M et al: Clinical image. Middle interhemispheric variant of holoprosencephaly. Pediatr Radiol. 40(11):1843, 2010
                                                                                          7. Solomon BD et al: Analysis of genotype-phenotype correlations in human holoprosencephaly. Am J Med Genet C Semin Med Genet. 154C(1):133-41, 2010
                                                                                          8. Viana Eda S et al: Solitary median maxillary central incisor syndrome and holoprosencephaly: a case report. Pediatr Dent. 32(5):424-7, 2010
                                                                                          9. Byun CK et al: MR angiography of a 1-year-old girl with semilobar holoprosencephaly. AJNR Am J Neuroradiol. 30(4):E56, 2009
                                                                                          10. Hayashi M et al: Neuropathological evaluation of the diencephalon, basal ganglia and upper brainstem in alobar holoprosencephaly. Acta Neuropathol. 107(3):190-6, 2004
                                                                                          11. Pulitzer SB et al: Prenatal MR findings of the middle interhemispheric variant of holoprosencephaly. AJNR Am J Neuroradiol. 25(6):1034-6, 2004
                                                                                          12. Barkovich AJ et al: Analysis of the cerebral cortex in holoprosencephaly with attention to the sylvian fissures. AJNR Am J Neuroradiol. 23(1):143-50, 2002
                                                                                          13. Blaas HG et al: Brains and faces in holoprosencephaly: pre- and postnatal description of 30 cases. Ultrasound Obstet Gynecol. 19(1):24-38, 2002
                                                                                          14. Simon EM et al: The middle interhemispheric variant of holoprosencephaly. AJNR Am J Neuroradiol. 23(1):151-6, 2002
                                                                                          15. Simon EM et al: The dorsal cyst in holoprosencephaly and the role of the thalamus in its formation. Neuroradiology. 43(9):787-91, 2001
                                                                                          16. Barkovich AJ et al. Middle interhemispheric fusion: an unusual variant of holoprosencephaly. AJNR Am J Neuroradiol, 14:431-40, 1993