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
Ong AGJ et al: Early diagnosis and differences in progression of fetal encephalocele. J Ultrasound Med. 39(7):1435-40, 2020
Markovic I et al: Occipital encephalocele: cause, incidence, neuroimaging and surgical management. Curr Pediatr Rev. 16(3):200-5, 2019
Sefidbakht S et al: Fetal MRI in prenatal diagnosis of encephalocele. J Obstet Gynaecol Can. 42(3):304-7, 2019
Yucetas SC et al: A retrospective analysis of neonatal encephalocele predisposing factors and outcomes. Pediatr Neurosurg. 52(2):73-6, 2017
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
Kasprian GJ et al: Prenatal imaging of occipital encephaloceles. Fetal Diagn Ther. 37(3):241-8, 2015
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
Sepulveda W et al: Fetal cephalocele: first-trimester sonographic spectrum in a review of 35 cases. Ultrasound Obstet Gynecol. 46(1):29-33, 2014
Gudu W et al: Encephalocele following a periconceptional exposure to efavirenz: a case report. J Perinatol. 33(12):987-8, 2013
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
Kiymaz N et al: Prognostic factors in patients with occipital encephalocele. Pediatr Neurosurg. 46(1):6-11, 2010
Baradaran N et al: Cephalocele: report of 55 cases over 8 years. Pediatr Neurosurg. 45(6):461-6, 2009
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
Mittermayer C et al: Prenatal diagnosis of the Meckel-Gruber syndrome from 11th to 20th gestational week. Ultraschall Med. 25(4):275-9, 2004
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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
Ong AGJ et al: Early diagnosis and differences in progression of fetal encephalocele. J Ultrasound Med. 39(7):1435-40, 2020
Markovic I et al: Occipital encephalocele: cause, incidence, neuroimaging and surgical management. Curr Pediatr Rev. 16(3):200-5, 2019
Sefidbakht S et al: Fetal MRI in prenatal diagnosis of encephalocele. J Obstet Gynaecol Can. 42(3):304-7, 2019
Yucetas SC et al: A retrospective analysis of neonatal encephalocele predisposing factors and outcomes. Pediatr Neurosurg. 52(2):73-6, 2017
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
Kasprian GJ et al: Prenatal imaging of occipital encephaloceles. Fetal Diagn Ther. 37(3):241-8, 2015
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
Sepulveda W et al: Fetal cephalocele: first-trimester sonographic spectrum in a review of 35 cases. Ultrasound Obstet Gynecol. 46(1):29-33, 2014
Gudu W et al: Encephalocele following a periconceptional exposure to efavirenz: a case report. J Perinatol. 33(12):987-8, 2013
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
Kiymaz N et al: Prognostic factors in patients with occipital encephalocele. Pediatr Neurosurg. 46(1):6-11, 2010
Baradaran N et al: Cephalocele: report of 55 cases over 8 years. Pediatr Neurosurg. 45(6):461-6, 2009
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
Mittermayer C et al: Prenatal diagnosis of the Meckel-Gruber syndrome from 11th to 20th gestational week. Ultraschall Med. 25(4):275-9, 2004
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