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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Abbreviations
- Holoprosencephaly (HPE)
Definitions
- Spectrum of congenital forebrain malformations characterized by failure of differentiation & midline cleavage of prosencephalon
- Traditionally, classic HPE is divided into alobar, semilobar, & lobar subtypes
- Middle interhemispheric variant (MIH) (a.k.a. syntelencephaly) is generally accepted as subtype of HPE
- Subtypes represent 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
- Riddle A et al: Fetal magnetic resonance imaging (MRI) in holoprosencephaly and associations with clinical outcome: implications for fetal counseling. J Child Neurol. 36(5):357-64, 2021
- Choi JJ et al: Fetal magnetic resonance imaging: supratentorial brain malformations. Pediatr Radiol. 50(13):1934-47, 2020
- Barkovich AJ at al. Pediatric Neuroimaging. 6th edition. Wolters Kluwer. 494-504, 2019
- Kousa YA et al: Prenatal diagnosis of holoprosencephaly. Am J Med Genet C Semin Med Genet. 178(2):206-13, 2018
- Winter TC et al: Holoprosencephaly: a survey of the entity, with embryology and fetal imaging. Radiographics. 35(1):275-90, 2015
- Dupé V et al: NOTCH, a new signaling pathway implicated in holoprosencephaly. Hum Mol Genet. 20(6):1122-31, 2011
- Levey EB et al: Management of children with holoprosencephaly. Am J Med Genet C Semin Med Genet. 154C(1):183-90, 2010
- 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
- Posada M et al: Clinical image. Middle interhemispheric variant of holoprosencephaly. Pediatr Radiol. 40(11):1843, 2010
- 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
- Viana Eda S et al: Solitary median maxillary central incisor syndrome and holoprosencephaly: a case report. Pediatr Dent. 32(5):424-7, 2010
- Byun CK et al: MR angiography of a 1-year-old girl with semilobar holoprosencephaly. AJNR Am J Neuroradiol. 30(4):E56, 2009
- Hayashi M et al: Neuropathological evaluation of the diencephalon, basal ganglia and upper brainstem in alobar holoprosencephaly. Acta Neuropathol. 107(3):190-6, 2004
- Pulitzer SB et al: Prenatal MR findings of the middle interhemispheric variant of holoprosencephaly. AJNR Am J Neuroradiol. 25(6):1034-6, 2004
- 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
- Blaas HG et al: Brains and faces in holoprosencephaly: pre- and postnatal description of 30 cases. Ultrasound Obstet Gynecol. 19(1):24-38, 2002
- Simon EM et al: The middle interhemispheric variant of holoprosencephaly. AJNR Am J Neuroradiol. 23(1):151-6, 2002
- Simon EM et al: The dorsal cyst in holoprosencephaly and the role of the thalamus in its formation. Neuroradiology. 43(9):787-91, 2001
- Barkovich AJ et al. Middle interhemispheric fusion: an unusual variant of holoprosencephaly. AJNR Am J Neuroradiol, 14:431-40, 1993
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Abbreviations
- Holoprosencephaly (HPE)
Definitions
- Spectrum of congenital forebrain malformations characterized by failure of differentiation & midline cleavage of prosencephalon
- Traditionally, classic HPE is divided into alobar, semilobar, & lobar subtypes
- Middle interhemispheric variant (MIH) (a.k.a. syntelencephaly) is generally accepted as subtype of HPE
- Subtypes represent 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
- Riddle A et al: Fetal magnetic resonance imaging (MRI) in holoprosencephaly and associations with clinical outcome: implications for fetal counseling. J Child Neurol. 36(5):357-64, 2021
- Choi JJ et al: Fetal magnetic resonance imaging: supratentorial brain malformations. Pediatr Radiol. 50(13):1934-47, 2020
- Barkovich AJ at al. Pediatric Neuroimaging. 6th edition. Wolters Kluwer. 494-504, 2019
- Kousa YA et al: Prenatal diagnosis of holoprosencephaly. Am J Med Genet C Semin Med Genet. 178(2):206-13, 2018
- Winter TC et al: Holoprosencephaly: a survey of the entity, with embryology and fetal imaging. Radiographics. 35(1):275-90, 2015
- Dupé V et al: NOTCH, a new signaling pathway implicated in holoprosencephaly. Hum Mol Genet. 20(6):1122-31, 2011
- Levey EB et al: Management of children with holoprosencephaly. Am J Med Genet C Semin Med Genet. 154C(1):183-90, 2010
- 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
- Posada M et al: Clinical image. Middle interhemispheric variant of holoprosencephaly. Pediatr Radiol. 40(11):1843, 2010
- 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
- Viana Eda S et al: Solitary median maxillary central incisor syndrome and holoprosencephaly: a case report. Pediatr Dent. 32(5):424-7, 2010
- Byun CK et al: MR angiography of a 1-year-old girl with semilobar holoprosencephaly. AJNR Am J Neuroradiol. 30(4):E56, 2009
- Hayashi M et al: Neuropathological evaluation of the diencephalon, basal ganglia and upper brainstem in alobar holoprosencephaly. Acta Neuropathol. 107(3):190-6, 2004
- Pulitzer SB et al: Prenatal MR findings of the middle interhemispheric variant of holoprosencephaly. AJNR Am J Neuroradiol. 25(6):1034-6, 2004
- 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
- Blaas HG et al: Brains and faces in holoprosencephaly: pre- and postnatal description of 30 cases. Ultrasound Obstet Gynecol. 19(1):24-38, 2002
- Simon EM et al: The middle interhemispheric variant of holoprosencephaly. AJNR Am J Neuroradiol. 23(1):151-6, 2002
- Simon EM et al: The dorsal cyst in holoprosencephaly and the role of the thalamus in its formation. Neuroradiology. 43(9):787-91, 2001
- Barkovich AJ et al. Middle interhemispheric fusion: an unusual variant of holoprosencephaly. AJNR Am J Neuroradiol, 14:431-40, 1993
