Summary: Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur.

Top Publications

  1. Warf B, Stagno V, Mugamba J. Encephalocele in Uganda: ethnic distinctions in lesion location, endoscopic management of hydrocephalus, and survival in 110 consecutive children. J Neurosurg Pediatr. 2011;7:88-93 pubmed publisher
    This study characterizes the first clinical series of encephalocele (EC) from East or Central Africa, and is the largest reported from the African continent...
  2. Peltonen E, Sedlmaier B, Brock M, Kombos T. Persistent cerebrospinal fluid rhinorrhea by intrasphenoidal encephalocele. Zentralbl Neurochir. 2008;69:187-90 pubmed publisher
    ..Transnasal surgical repair was performed; intraoperatively the mass was identified as an intrasphenoidal encephalocele. The pathogenesis of this anomaly is analyzed, the clinical findings and the operative treatment are described,..
  3. Quezado Z, Finkel J. Airway management in neonates with occipital encephalocele: easy does it. Anesth Analg. 2008;107:1446 pubmed publisher
  4. Demirel N, Aydin M, Zenciroglu A, Okumus N, Tekgunduz K, Ipek M, et al. Incontinentia pigmenti with encephalocele in a neonate: a rare association. J Child Neurol. 2009;24:495-9 pubmed publisher
    ..We report a neonate with incontinentia pigmenti and encephalocele, as a feature of the central nervous system involvement, to stress this uncommon association.
  5. Kiymaz N, Yilmaz N, Demir I, Keskin S. Prognostic factors in patients with occipital encephalocele. Pediatr Neurosurg. 2010;46:6-11 pubmed publisher
    An encephalocele is a herniation of the brain and the meninges through a skull defect protruding towards the exterior. The condition is not rare when compared to spinal dysraphisms, but the worldwide incidence is not precisely known...
  6. Mahajan C, Rath G, Dash H, Bithal P. Perioperative management of children with encephalocele: an institutional experience. J Neurosurg Anesthesiol. 2011;23:352-6 pubmed publisher
    ..The inherent implications of pediatric anesthesia and difficult airway make surgical correction challenging for anesthesiologists..
  7. Tallila J, Jakkula E, Peltonen L, Salonen R, Kestila M. Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. Am J Hum Genet. 2008;82:1361-7 pubmed publisher
    Meckel syndrome (MKS) is a lethal malformation disorder characterized classically by encephalocele, polycystic kidneys, and polydactyly. MKS is also one of the major contributors to syndromic neural tube defects (NTDs)...
  8. Ramalingam K, Ramalingam R, SreenivasaMurthy T, Chandrakala G. Management of temporal bone meningo-encephalocoele. J Laryngol Otol. 2008;122:1168-74 pubmed publisher
    ..We present a series of 13 patients with chronic otitis media who suffered brain herniation into the mastoid cavity. We also discuss the presentation and management of brain herniation with or without cerebrospinal fluid leak...
  9. Rumana M, Khursheed N, Ramzan A. Congenital occipital encephalocele with Dabska tumor: report of an unusual case. Pediatr Neurosurg. 2012;48:48-50 pubmed publisher
    ..We hereby discuss a case of an unusual association of an occipital encephalocele with papillary intralymphatic angioendothelioma or Dabska tumor arising from the sac itself...

More Information


  1. Collin G, Won J, Hicks W, Cook S, Nishina P, Naggert J. Meckelin is necessary for photoreceptor intraciliary transport and outer segment morphogenesis. Invest Ophthalmol Vis Sci. 2012;53:967-74 pubmed publisher
    ..In this study, the retinal morphology and ciliary function in a mouse model for Meckel Syndrome Type 3 (MKS3) throughout the course of photoreceptor development was examined...
  2. Kwon J, Kim E. Middle fossa approach to a temporosphenoidal encephalocele -technical note-. Neurol Med Chir (Tokyo). 2010;50:434-8 pubmed
    Temporosphenoidal encephalocele (TSE) is a rare entity caused by herniation of the anteromedial temporal lobe into the sphenoid sinus (SS) through a middle fossa (MF) defect...
  3. Sanna M, Fois P, Paolo F, Russo A, Falcioni M. Management of meningoencephalic herniation of the temporal bone: Personal experience and literature review. Laryngoscope. 2009;119:1579-85 pubmed publisher
    ..A review of the literature is also presented...
  4. Sang L, Miller J, Corbit K, Giles R, Brauer M, Otto E, et al. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell. 2011;145:513-28 pubmed publisher
    ..Our study further illustrates the power of linking proteomic networks and human genetics to uncover critical disease pathways. ..
  5. Dowdle W, Robinson J, Kneist A, Sirerol Piquer M, Frints S, Corbit K, et al. Disruption of a ciliary B9 protein complex causes Meckel syndrome. Am J Hum Genet. 2011;89:94-110 pubmed publisher
    ..Mutations in human MKS1 cause Meckel syndrome (MKS), a severe ciliopathy characterized by occipital encephalocele, liver ductal plate malformations, polydactyly, and kidney cysts...
  6. Arai A, Mizukawa K, Nishihara M, Fujita A, Hosoda K, Kohmura E. Spontaneous cerebrospinal fluid rhinorrhea associated with a far lateral temporal encephalocele--case report. Neurol Med Chir (Tokyo). 2010;50:243-5 pubmed
    ..Neuroimaging investigations revealed a defect in the lateral side of middle cranial fossa, temporal lobe encephalocele protruding into the lateral extension of the sphenoid sinus, and cerebrospinal fluid (CSF) collection on the ..
  7. Milhorat T, Bolognese P, Nishikawa M, Francomano C, McDonnell N, Roonprapunt C, et al. Association of Chiari malformation type I and tethered cord syndrome: preliminary results of sectioning filum terminale. Surg Neurol. 2009;72:20-35 pubmed publisher
    ..There is preliminary evidence that SFT can reverse moderate degrees of tonsillar ectopia and is appropriate treatment for cerebellar ptosis after Chiari surgery in this cohort. ..
  8. Rathore Y, Gupta D, Mahapatra A. Transsellar transsphenoidal encephalocele: a case report. Pediatr Neurosurg. 2010;46:472-4 pubmed publisher
    ..5% of all encephaloceles. Transsellar transsphenoidal encephaloceles are the rarest variety of basal encephaloceles. We report a rare case of transsellar transsphenoidal encephalocele managed by a transnasal transseptal approach.
  9. Garcia Gonzalo F, Corbit K, Sirerol Piquer M, Ramaswami G, Otto E, Noriega T, et al. A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat Genet. 2011;43:776-84 pubmed publisher
    ..Thus, a transition zone complex of Meckel and Joubert syndrome proteins regulates ciliary assembly and trafficking, suggesting that transition zone dysfunction is the cause of these ciliopathies. ..
  10. Krishnamurthy S, Kapoor S, Sharma V, Prakash A. Tectocerebellar dysraphia and occipital encephalocele: an unusual association with abdominal situs inversus and congenital heart disease. Indian J Pediatr. 2008;75:1178-80 pubmed publisher
    Tectocerebellar dysraphia is a rare constellation of malformations comprising of occipital encephalocele, aplasia of the cerebellar vermis and deformity of the tectum...
  11. Leitch C, Zaghloul N, Davis E, Stoetzel C, Diaz Font A, Rix S, et al. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet. 2008;40:443-8 pubmed publisher
    ..These data extend the genetic stratification of ciliopathies and suggest that BBS and MKS, although distinct clinically, are allelic forms of the same molecular spectrum...
  12. Cakmak A, Zeyrek D, Cekin A, Karazeybek H. Dandy-Walker syndrome together with occipital encephalocele. Minerva Pediatr. 2008;60:465-8 pubmed
    ..b>Encephalocele is diagnosed from the calvarium defect, cerebrospinal fluid (CSF) and herniation of the meninges...
  13. Williams C, Li C, Kida K, Inglis P, Mohan S, Semenec L, et al. MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis. J Cell Biol. 2011;192:1023-41 pubmed publisher
  14. Rathore Y, Sinha S, Mahapatra A. Transsellar transsphenoidal encephalocele: a series of four cases. Neurol India. 2011;59:289-92 pubmed publisher
    Transsellar transsphenoidal encephalocele is the least common type of basal encephalocele. We present a series of four cases of transsellar transsphenoidal encephalocele...
  15. Rahbar R, Resto V, Robson C, Perez Atayde A, Goumnerova L, McGill T, et al. Nasal glioma and encephalocele: diagnosis and management. Laryngoscope. 2003;113:2069-77 pubmed
    To review the biology of nasal glioma and encephalocele and to present an algorithm for preoperative evaluation and surgical management.
  16. Dey N, Gombar K, Khanna A, Khandelwal P. Airway management in neonates with occipital encephalocele: adjustments and modifications. Paediatr Anaesth. 2007;17:1119-20 pubmed
  17. Radmanesh F, Nejat F, Monajemzadeh M. Teratoma within an encephalocele: common etiology or coincidence. Case report. J Neurosurg. 2007;107:263-5 pubmed
    b>Encephalocele is a cystic congenital malformation in which central nervous system structures herniate through a defect in the cranium. The coincidence of encephalocele and neoplasm is a very rare condition...
  18. Wootten C, Kaylie D, Warren F, Jackson C. Management of brain herniation and cerebrospinal fluid leak in revision chronic ear surgery. Laryngoscope. 2005;115:1256-61 pubmed
    ..This paper will discuss the presentation and management of brain herniation and/or CSF leak encountered in revision chronic ear surgery...
  19. Alexiev B, Lin X, Sun C, Brenner D. Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis. Arch Pathol Lab Med. 2006;130:1236-8 pubmed
    ..Typical sonographic findings (occipital encephalocele, postaxial polydactyly, and cystic enlargement of the kidneys) allow for diagnosis of most cases before the ..
  20. Mayeno J, Korol H, Nutik S. Spontaneous meningoencephalic herniation of the temporal bone: case series with recommended treatment. Otolaryngol Head Neck Surg. 2004;130:486-9 pubmed
  21. Fraioli B, Conti C, Lunardi P, Liccardo G, Fraioli M, Pastore F. Intrasphenoidal encephalocele associated with cerebrospinal fluid fistula and subdural hematomas: technical case report. Neurosurgery. 2003;52:1487-90; discussion 1490 pubmed
    Intrasphenoidal encephalocele is a rare clinical entity that is often complicated by rhinorrhea, recurrent meningitis, and headache, but in no case has the association of rhinorrhea with subdural hematomas been described...
  22. Schwartz M, Shaw G. Bacterial meningitis secondary to a transethmoidal encephalocele presenting to the emergency department. J Emerg Med. 2002;23:171-4 pubmed
    ..He was subsequently found to have pneumococcal meningitis as the result of an encephalocele located within the left ethmoid sinus...
  23. Mahapatra A, Gupta P, Dev E. Posterior fontanelle giant encephalocele. Pediatr Neurosurg. 2002;36:40-3 pubmed
    A 4-day-old baby was admitted with a large posterior fontanelle encephalocele. The baby was the third child of a consanguineous marriage. Two older siblings, 5 and 3 years old, were normal...
  24. Haberle J, Hulskamp G, Harms E, Krasemann T. Cervical encephalocele in a newborn--Chiari III malformation. Case report and review of the literature. Childs Nerv Syst. 2001;17:373-5 pubmed
    ..Following a report on a newborn child with a Chiari III malformation that took a fatal but typical course the literature is reviewed...
  25. Sdano M, Pensak M. Temporal bone encephaloceles. Curr Opin Otolaryngol Head Neck Surg. 2005;13:287-9 pubmed
  26. Bikmaz K, Cosar M, Iplikcioglu A, Dinc C, Hatiboglu M. Spontaneous cerebrospinal fluid rhinorrhoea due to temporosphenoidal encephalocele. J Clin Neurosci. 2005;12:827-9 pubmed
    ..MRI revealed a defect in the lateral wall of the sphenoid sinus, with an anteromedial temporosphenoidal encephalocele. Surgery was performed transcranially through a pterional approach...
  27. Satyarthee G, Mahapatra A. Craniofacial surgery for giant frontonasal encephalocele in a neonate. J Clin Neurosci. 2002;9:593-5 pubmed
    A 5-day-old neonate with a frontonasal encephalocele is reported. He was referred to our institute with a swelling on the glabella not associated with cerebrospinal fluid (CSF) leak...
  28. Sertié A, Quimby M, Moreira E, Murray J, Zatz M, Antonarakis S, et al. A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3. Hum Mol Genet. 1996;5:843-7 pubmed
    ..by high myopia, vitreoretinal degeneration with retinal detachment, macular abnormalities and occipital encephalocele, was recently confirmed as autosomal recessive...
  29. Shimizu T, Kitamura S, Kinouchi K, Fukumitsu K. A rare case of upper airway obstruction in an infant caused by basal encephalocele complicating facial midline deformity. Paediatr Anaesth. 1999;9:73-6 pubmed
    A four-month-old male infant with basal encephalocele of the transsphenoidal type presented with upper airway obstruction and facial midline deformity, including cleft lip, cleft palate, hypertelorism and exophthalmos...
  30. Minotto I, Abdala N, Miachon A, Spinola e Castro A, Imamura P, Nogueira R. Basal encephalocele associated with morning glory syndrome: case report. Arq Neuropsiquiatr. 2007;65:988-91 pubmed
    ..We accounted for a pituitary dwarfism with delayed diagnosed transsphenoidal encephalocele associated with morning glory syndrome, showing the alterations found in retinography, computed tomography and ..
  31. Rao A, Merenda D, Wetmore S. Diagnosis and management of spontaneous cerebrospinal fluid otorrhea. Otol Neurotol. 2005;26:1171-5 pubmed
    ..To describe the clinical presentation, diagnosis, surgical management, and outcome of patients with spontaneous cerebrospinal fluid otorrhea...
  32. Ickowicz V, Eurin D, Maugey Laulom B, Didier F, Garel C, Gubler M, et al. Meckel-Grüber syndrome: sonography and pathology. Ultrasound Obstet Gynecol. 2006;27:296-300 pubmed
    ..To define a specific sonographic pattern for the appearance of the kidneys in fetuses affected by Meckel-Grüber syndrome (MGS)...
  33. Aarabi B, Hesdorffer D, Ahn E, Aresco C, Scalea T, Eisenberg H. Outcome following decompressive craniectomy for malignant swelling due to severe head injury. J Neurosurg. 2006;104:469-79 pubmed
    ..The aim of this study was to assess outcome following decompressive craniectomy for malignant brain swelling due to closed traumatic brain injury (TBI)...
  34. Manhas Y, Chinnan N, Singh A. Neonatal airway management in occipital encephalocele. Anesth Analg. 2006;103:1632 pubmed
  35. Agrawal A, Rao K, Krishnamoorthy B, Shetty R, Anand M, Jain H. Single stage craniofacial reconstruction for fronto-nasal encephalocele and hypertelorism in an adult. Singapore Med J. 2007;48:e215-9 pubmed
    The fronto-nasal type of fronto-ethmoidal encephalocele is one of the more common subtype of anterior encephaloceles. We discuss different aspects and difficulties in the management of fronto-nasal encephalocele in a 30-year-old woman...
  36. Tubbs R, Wellons J, Oakes W. Occipital encephalocele, lipomeningomyelocele, and Chiari I malformation: case report and review of the literature. Childs Nerv Syst. 2003;19:50-3 pubmed
    We report a pediatric patient with encephalocele, lipomeningomyelocele, and Chiari I malformation.
  37. Siffel C, Wong L, Olney R, Correa A. Survival of infants diagnosed with encephalocele in Atlanta, 1979-98. Paediatr Perinat Epidemiol. 2003;17:40-8 pubmed
    This study aimed to evaluate the survival of a cohort of liveborn infants diagnosed with encephalocele during a 20-year period and the variation of such survival by selected demographic and clinical characteristics...
  38. Narasimhan K, Coticchia J. Transsphenoidal encephalocele in a neonate. Ear Nose Throat J. 2006;85:420, 422 pubmed
  39. Chen C, David D, Hanieh A. Morning glory syndrome and basal encephalocele. Childs Nerv Syst. 2004;20:87-90 pubmed
    Morning glory syndrome (MGS) is a congenital optic disc dysplasia often associated with craniofacial anomalies, especially basal encephalocele. Clinical presentations are varied and often occult.
  40. Menzel O, Bekkeheien R, Reymond A, Fukai N, Boye E, Kosztolanyi G, et al. Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. Hum Mutat. 2004;23:77-84 pubmed
    ..disorder characterized by high myopia, vitreoretinal degeneration with retinal detachment, and congenital encephalocele. Pathogenic mutations in the COL18A1 gene on 21q22.3 were recently identified in KNO families...
  41. Kahyaoğlu O, Cavusoglu H, Musluman A, Kaya R, Yilmaz A, Sahin Y, et al. Transsellar transsphenoidal rhino-oral encephalocele. Turk Neurosurg. 2007;17:264-8 pubmed
    ..We present a 1-year-old male patient with transsellar transsphenoidal encephalocele which herniated into the oral cavity through the congenital split palate...
  42. Agrawal D, Mahapatra A. Giant occipital encephalocele with microcephaly and micrognathia. Pediatr Neurosurg. 2004;40:205-6 pubmed
  43. Quadrelli R, Strehle E, Vaglio A, Larrandaburu M, Mechoso B, Quadrelli A, et al. A girl with del(4)(q33) and occipital encephalocele: clinical description and molecular genetic characterization of a rare patient. Genet Test. 2007;11:4-10 pubmed
    ..She showed facial and digital dysmorphism, a complex congenital heart defect, a large occipital encephalocele, and postnatal growth deficiency...
  44. Van Esch H, Poirier K, de Zegher F, Holvoet M, Bienvenu T, Chelly J, et al. ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism. Clin Genet. 2004;65:503-5 pubmed
  45. Bozinov O, Tirakotai W, Sure U, Bertalanffy H. Surgical closure and reconstruction of a large occipital encephalocele without parenchymal excision. Childs Nerv Syst. 2005;21:144-7 pubmed
    ..herniated brain tissue have been described, but they focus on increasing the intracranial cavity by ventriculomegaly and retracting the encephalocele into new intracranial space in a second stage, as a result of hydrocephalic treatment.
  46. Marneros A, Olsen B. Physiological role of collagen XVIII and endostatin. FASEB J. 2005;19:716-28 pubmed
    ..in patients with Knobloch syndrome, characterized by age-dependent vitreoretinal degeneration and occipital encephalocele. That collagen XVIII/endostatin has an essential role in ocular development and the maintenance of visual ..
  47. Sinha A, Ojha S, Mahajan J. Gangrene of an occipital encephalocele. Indian J Pediatr. 2005;72:451 pubmed
  48. Gupta D, Mahapatra A. Transethmoidal transpharyngeal nasal encephalocele: Neuroimaging. Pediatr Neurosurg. 2006;42:335-7 pubmed
  49. Hasegawa S, Hayashi N, Kubo M, Hamada H, Kuwayama N, Shojaku H, et al. Basal encephalocele associated with hypoplasia of the internal carotid artery. Neurol Med Chir (Tokyo). 2007;47:572-5 pubmed
    A 22-year-old woman presented with a basal encephalocele associated with hypoplasia of the internal carotid artery (ICA) manifesting as a 6-year history of decreased vision in the right eye...
  50. Wen S, Ethen M, Langlois P, Mitchell L. Prevalence of encephalocele in Texas, 1999-2002. Am J Med Genet A. 2007;143A:2150-5 pubmed
    ..The etiology of encephalocele is considered to be complex, and in most cases the causes of this condition remain elusive...
  51. Bovo R, Ceruti S, Padovani R, Martini A. Temporal bone brain herniation. Otol Neurotol. 2006;27:576-7 pubmed
  52. Puget S, Kondageski C, Wray A, Boddaert N, Roujeau T, Di Rocco F, et al. Chiari-like tonsillar herniation associated with intracranial hypotension in Marfan syndrome. Case report. J Neurosurg. 2007;106:48-52 pubmed
    ..In this rare association of SIH and connective tissue disorders, recognition of the clinical signs and typical MR imaging features of SIH may lead to more appropriate and less invasive treatment, potentially avoiding surgery...
  53. Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, et al. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet. 2007;39:875-81 pubmed
    ..Our findings show that mutations in RPGRIP1L can cause the multiorgan phenotypic abnormalities found in CORS or MKS, which therefore represent a continuum of the same underlying disorder...