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Lobar Holoprosencephaly
Anne M. Kennedy, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Definitions

                • Lobar holoprosencephaly (HPE)
                  • Least severe end of holoprosencephaly spectrum
                  • Interhemispheric fissure present along entire midline with differentiation of cerebral hemispheres
                  • Neuropathology definition of lobar HPE specifies at least 1 gyrus in continuity across midline

              IMAGING

              • General Features

                • Ultrasonographic Findings

                  • MR Findings

                    • Imaging Recommendations

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          CLINICAL ISSUES

                          • Presentation

                            • Natural History & Prognosis

                              • Treatment

                                DIAGNOSTIC CHECKLIST

                                • Consider

                                  • Image Interpretation Pearls

                                    Selected References

                                    1. Kakar N et al: STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly. Hum Genet. 134(1):45-51, 2015
                                    2. Peltekova IT et al: Novel interstitial deletion of 10q24.3-25.1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys. Am J Med Genet A. 164A(12):3132-6, 2014
                                    3. Radojicic J et al: Rare disease: lobar holoprosencephaly with a median cleft lip-case report. Cleft Palate Craniofac J. 53(1):109-17, 2014
                                    4. 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
                                    5. Hahn JS et al: Septopreoptic Holoprosencephaly: A Mild Subtype Associated with Midline Craniofacial Anomalies. AJNR Am J Neuroradiol. Epub ahead of print, 2010
                                    6. Marcorelles P et al: Neuropathology of holoprosencephaly. Am J Med Genet C Semin Med Genet. 154C(1):109-19, 2010
                                    7. Blaas HG et al: Sonoembryology and early prenatal diagnosis of neural anomalies. Prenat Diagn. 29(4):312-25, 2009
                                    8. Volpe P et al: Disorders of prosencephalic development. Prenat Diagn. 29(4):340-54, 2009
                                    9. 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
                                    10. Barkovich AJ: Congenital malformations of the brain and skull. In Pediatric Neuroimaging. Philadelphia: Lippincott Williams and Wilkins. 291-439, 2005
                                    11. Wong AM et al: Lobar holoprosencephaly: prenatal MR diagnosis with postnatal MR correlation. Prenat Diagn. 25(4):296-9, 2005
                                    12. Blin G et al: Prenatal diagnosis of lobar holoprosencephaly using color Doppler: three cases with the anterior cerebral artery crawling under the skull. Ultrasound Obstet Gynecol. 24(4):476-8, 2004
                                    13. Hahn JS et al: Evaluation and management of children with holoprosencephaly. Pediatr Neurol. 31(2):79-88, 2004
                                    14. Hendi JM et al: Plastic surgery considerations for holoprosencephaly patients. J Craniofac Surg. 15(4):675-7, 2004
                                    15. Kinsman SL: White matter imaging in holoprosencephaly in children. Curr Opin Neurol. 17(2):115-9, 2004
                                    16. Sepulveda W et al: First-trimester sonographic diagnosis of holoprosencephaly: value of the "butterfly" sign. J Ultrasound Med. 23(6):761-5; quiz 766-7, 2004
                                    17. Takahashi TS et al: Holoprosencephaly--topologic variations in a liveborn series: a general model based upon MRI analysis. J Neurocytol. 33(1):23-35, 2004
                                    18. Thakur S et al: Spectrum of holoprosencephaly. Indian J Pediatr. 71(7):593-7, 2004
                                    19. Takahashi T et al: Semilobar holoprosencephaly with midline 'seam': a topologic and morphogenetic model based upon MRI analysis. Cereb Cortex. 13(12):1299-312, 2003
                                    20. Bernard JP et al: A new clue to the prenatal diagnosis of lobar holoprosencephaly: the abnormal pathway of the anterior cerebral artery crawling under the skull. Ultrasound Obstet Gynecol. 19(6):605-7, 2002
                                    21. Blaas HG et al: Brains and faces in holoprosencephaly: pre- and postnatal description of 30 cases. Ultrasound Obstet Gynecol. 19(1):24-38, 2002
                                    22. Kjaer I et al: Midline skeletodental morphology in holoprosencephaly. Cleft Palate Craniofac J. 39(3):357-63, 2002
                                    23. Witters I et al: Semilobar holoprosencephaly in a 46,XY female fetus. Prenat Diagn. 21(10):839-41, 2001
                                    24. Sztriha L et al: Mediobasal and mantle defect of the prosencephalon: lobar holoprosencephaly, schizencephaly and diabetes insipidus. Neuropediatrics. 29(5):272-5, 1998
                                    25. Chow BH et al: Holoprosencephaly and chromosomal anomalies. Singapore Med J. 37(4):394-7, 1996
                                    26. Pilu G et al: Intraventricular fused fornices: a specific sign of fetal lobar holoprosencephaly. Ultrasound Obstet Gynecol. 4(1):65-7, 1994
                                    27. Kuhn MJ et al: Absence of the septum pellucidum and related disorders. Comput Med Imaging Graph. 17(2):137-47, 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

                                              • Diagnostic Checklist

                                                TERMINOLOGY

                                                • Definitions

                                                  • Lobar holoprosencephaly (HPE)
                                                    • Least severe end of holoprosencephaly spectrum
                                                    • Interhemispheric fissure present along entire midline with differentiation of cerebral hemispheres
                                                    • Neuropathology definition of lobar HPE specifies at least 1 gyrus in continuity across midline

                                                IMAGING

                                                • General Features

                                                  • Ultrasonographic Findings

                                                    • MR Findings

                                                      • Imaging Recommendations

                                                        DIFFERENTIAL DIAGNOSIS

                                                          PATHOLOGY

                                                          • General Features

                                                            CLINICAL ISSUES

                                                            • Presentation

                                                              • Natural History & Prognosis

                                                                • Treatment

                                                                  DIAGNOSTIC CHECKLIST

                                                                  • Consider

                                                                    • Image Interpretation Pearls

                                                                      Selected References

                                                                      1. Kakar N et al: STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly. Hum Genet. 134(1):45-51, 2015
                                                                      2. Peltekova IT et al: Novel interstitial deletion of 10q24.3-25.1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys. Am J Med Genet A. 164A(12):3132-6, 2014
                                                                      3. Radojicic J et al: Rare disease: lobar holoprosencephaly with a median cleft lip-case report. Cleft Palate Craniofac J. 53(1):109-17, 2014
                                                                      4. 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
                                                                      5. Hahn JS et al: Septopreoptic Holoprosencephaly: A Mild Subtype Associated with Midline Craniofacial Anomalies. AJNR Am J Neuroradiol. Epub ahead of print, 2010
                                                                      6. Marcorelles P et al: Neuropathology of holoprosencephaly. Am J Med Genet C Semin Med Genet. 154C(1):109-19, 2010
                                                                      7. Blaas HG et al: Sonoembryology and early prenatal diagnosis of neural anomalies. Prenat Diagn. 29(4):312-25, 2009
                                                                      8. Volpe P et al: Disorders of prosencephalic development. Prenat Diagn. 29(4):340-54, 2009
                                                                      9. 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
                                                                      10. Barkovich AJ: Congenital malformations of the brain and skull. In Pediatric Neuroimaging. Philadelphia: Lippincott Williams and Wilkins. 291-439, 2005
                                                                      11. Wong AM et al: Lobar holoprosencephaly: prenatal MR diagnosis with postnatal MR correlation. Prenat Diagn. 25(4):296-9, 2005
                                                                      12. Blin G et al: Prenatal diagnosis of lobar holoprosencephaly using color Doppler: three cases with the anterior cerebral artery crawling under the skull. Ultrasound Obstet Gynecol. 24(4):476-8, 2004
                                                                      13. Hahn JS et al: Evaluation and management of children with holoprosencephaly. Pediatr Neurol. 31(2):79-88, 2004
                                                                      14. Hendi JM et al: Plastic surgery considerations for holoprosencephaly patients. J Craniofac Surg. 15(4):675-7, 2004
                                                                      15. Kinsman SL: White matter imaging in holoprosencephaly in children. Curr Opin Neurol. 17(2):115-9, 2004
                                                                      16. Sepulveda W et al: First-trimester sonographic diagnosis of holoprosencephaly: value of the "butterfly" sign. J Ultrasound Med. 23(6):761-5; quiz 766-7, 2004
                                                                      17. Takahashi TS et al: Holoprosencephaly--topologic variations in a liveborn series: a general model based upon MRI analysis. J Neurocytol. 33(1):23-35, 2004
                                                                      18. Thakur S et al: Spectrum of holoprosencephaly. Indian J Pediatr. 71(7):593-7, 2004
                                                                      19. Takahashi T et al: Semilobar holoprosencephaly with midline 'seam': a topologic and morphogenetic model based upon MRI analysis. Cereb Cortex. 13(12):1299-312, 2003
                                                                      20. Bernard JP et al: A new clue to the prenatal diagnosis of lobar holoprosencephaly: the abnormal pathway of the anterior cerebral artery crawling under the skull. Ultrasound Obstet Gynecol. 19(6):605-7, 2002
                                                                      21. Blaas HG et al: Brains and faces in holoprosencephaly: pre- and postnatal description of 30 cases. Ultrasound Obstet Gynecol. 19(1):24-38, 2002
                                                                      22. Kjaer I et al: Midline skeletodental morphology in holoprosencephaly. Cleft Palate Craniofac J. 39(3):357-63, 2002
                                                                      23. Witters I et al: Semilobar holoprosencephaly in a 46,XY female fetus. Prenat Diagn. 21(10):839-41, 2001
                                                                      24. Sztriha L et al: Mediobasal and mantle defect of the prosencephalon: lobar holoprosencephaly, schizencephaly and diabetes insipidus. Neuropediatrics. 29(5):272-5, 1998
                                                                      25. Chow BH et al: Holoprosencephaly and chromosomal anomalies. Singapore Med J. 37(4):394-7, 1996
                                                                      26. Pilu G et al: Intraventricular fused fornices: a specific sign of fetal lobar holoprosencephaly. Ultrasound Obstet Gynecol. 4(1):65-7, 1994
                                                                      27. Kuhn MJ et al: Absence of the septum pellucidum and related disorders. Comput Med Imaging Graph. 17(2):137-47, 1993