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Occipital, Parietal Cephalocele
Paula J. Woodward, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Definitions

                • Cephalocele: Defect in skull and dura with protrusion of intracranial structures
                • Further described by contents
                  • Encephalocele (meningoencephalocele): Cerebrospinal fluid (CSF), brain tissue, and meninges
                  • Meningocele: Meninges and CSF
                  • Atretic cephalocele: Forme fruste of cephalocele with protrusion of dura, fibrous tissue, and ectopic neuroglial rests
                • Chiari 3, rhombencephalocele: Low occipital or high cervical meningoencephalocele containing cerebellum ± brainstem, meninges, vessels, CSF
                • Other related terms
                  • Cranioschisis: Congenital failure of skull to close, typically accompanied by defective brain development
                  • Craniorachischisis: Congenital fissure of cranium and vertebral column

              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

                                    • Image Interpretation Pearls

                                      Selected References

                                      1. Ong AGJ et al: Early diagnosis and differences in progression of fetal encephalocele. J Ultrasound Med. 39(7):1435-40, 2020
                                      2. Markovic I et al: Occipital encephalocele: cause, incidence, neuroimaging and surgical management. Curr Pediatr Rev. 16(3):200-5, 2019
                                      3. Sefidbakht S et al: Fetal MRI in prenatal diagnosis of encephalocele. J Obstet Gynaecol Can. 42(3):304-7, 2019
                                      4. Yucetas SC et al: A retrospective analysis of neonatal encephalocele predisposing factors and outcomes. Pediatr Neurosurg. 52(2):73-6, 2017
                                      5. Da Silva SL et al: Risk factors for hydrocephalus and neurological deficit in children born with an encephalocele. J Neurosurg Pediatr. 15(4):392-8, 2015
                                      6. Kasprian GJ et al: Prenatal imaging of occipital encephaloceles. Fetal Diagn Ther. 37(3):241-8, 2015
                                      7. Jones D et al: First-trimester diagnosis of Meckel-Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next-generation sequencing. Ultrasound Obstet Gynecol. 44(6):719-21, 2014
                                      8. Sepulveda W et al: Fetal cephalocele: first-trimester sonographic spectrum in a review of 35 cases. Ultrasound Obstet Gynecol. 46(1):29-33, 2014
                                      9. Gudu W et al: Encephalocele following a periconceptional exposure to efavirenz: a case report. J Perinatol. 33(12):987-8, 2013
                                      10. Bağci S et al: Intestinal atresia, encephalocele, and cardiac malformations in infants with 47,XXX: Expansion of the phenotypic spectrum and a review of the literature. Fetal Diagn Ther. 27(2):113-7, 2010
                                      11. Kiymaz N et al: Prognostic factors in patients with occipital encephalocele. Pediatr Neurosurg. 46(1):6-11, 2010
                                      12. Baradaran N et al: Cephalocele: report of 55 cases over 8 years. Pediatr Neurosurg. 45(6):461-6, 2009
                                      13. Jalali A et al: Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity. Hum Genet. 123(3):237-45, 2008
                                      14. Mittermayer C et al: Prenatal diagnosis of the Meckel-Gruber syndrome from 11th to 20th gestational week. Ultraschall Med. 25(4):275-9, 2004
                                      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

                                                    • Cephalocele: Defect in skull and dura with protrusion of intracranial structures
                                                    • Further described by contents
                                                      • Encephalocele (meningoencephalocele): Cerebrospinal fluid (CSF), brain tissue, and meninges
                                                      • Meningocele: Meninges and CSF
                                                      • Atretic cephalocele: Forme fruste of cephalocele with protrusion of dura, fibrous tissue, and ectopic neuroglial rests
                                                    • Chiari 3, rhombencephalocele: Low occipital or high cervical meningoencephalocele containing cerebellum ± brainstem, meninges, vessels, CSF
                                                    • Other related terms
                                                      • Cranioschisis: Congenital failure of skull to close, typically accompanied by defective brain development
                                                      • Craniorachischisis: Congenital fissure of cranium and vertebral column

                                                  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

                                                                        • Image Interpretation Pearls

                                                                          Selected References

                                                                          1. Ong AGJ et al: Early diagnosis and differences in progression of fetal encephalocele. J Ultrasound Med. 39(7):1435-40, 2020
                                                                          2. Markovic I et al: Occipital encephalocele: cause, incidence, neuroimaging and surgical management. Curr Pediatr Rev. 16(3):200-5, 2019
                                                                          3. Sefidbakht S et al: Fetal MRI in prenatal diagnosis of encephalocele. J Obstet Gynaecol Can. 42(3):304-7, 2019
                                                                          4. Yucetas SC et al: A retrospective analysis of neonatal encephalocele predisposing factors and outcomes. Pediatr Neurosurg. 52(2):73-6, 2017
                                                                          5. Da Silva SL et al: Risk factors for hydrocephalus and neurological deficit in children born with an encephalocele. J Neurosurg Pediatr. 15(4):392-8, 2015
                                                                          6. Kasprian GJ et al: Prenatal imaging of occipital encephaloceles. Fetal Diagn Ther. 37(3):241-8, 2015
                                                                          7. Jones D et al: First-trimester diagnosis of Meckel-Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next-generation sequencing. Ultrasound Obstet Gynecol. 44(6):719-21, 2014
                                                                          8. Sepulveda W et al: Fetal cephalocele: first-trimester sonographic spectrum in a review of 35 cases. Ultrasound Obstet Gynecol. 46(1):29-33, 2014
                                                                          9. Gudu W et al: Encephalocele following a periconceptional exposure to efavirenz: a case report. J Perinatol. 33(12):987-8, 2013
                                                                          10. Bağci S et al: Intestinal atresia, encephalocele, and cardiac malformations in infants with 47,XXX: Expansion of the phenotypic spectrum and a review of the literature. Fetal Diagn Ther. 27(2):113-7, 2010
                                                                          11. Kiymaz N et al: Prognostic factors in patients with occipital encephalocele. Pediatr Neurosurg. 46(1):6-11, 2010
                                                                          12. Baradaran N et al: Cephalocele: report of 55 cases over 8 years. Pediatr Neurosurg. 45(6):461-6, 2009
                                                                          13. Jalali A et al: Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity. Hum Genet. 123(3):237-45, 2008
                                                                          14. Mittermayer C et al: Prenatal diagnosis of the Meckel-Gruber syndrome from 11th to 20th gestational week. Ultraschall Med. 25(4):275-9, 2004