encephalocele

Summary

Summary: Cerebral 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. ncbi Spontaneous cerebrospinal fluid rhinorrhoea in anteromedial temporal occult encephalocele
    G Vergoni
    Department of Neurosurgery, M. Bufalini Hospital, Cesena, Italy
    Br J Neurosurg 15:156-8. 2001
  2. ncbi Frontoethmoidal encephalomeningocoele with colpocephaly: case report and clinical review
    Abhinandan Bhattacharjee
    Otolaryngology Department, Silchar Medical College and Hospital, Silchar, Assam, India
    J Laryngol Otol 122:321-3. 2008
  3. ncbi Secondary craniofacial reconstruction of huge frontoethmoidal encephalomeningocele after primary neurosurgical repair
    Wakako Nasu
    Department of Plastic and Reconstructive Surgery, Iwate Medical University, Faculty of Medicine, 19 1 Uchimaru, Morioka, Japan
    J Craniofac Surg 19:171-4. 2008
  4. pmc Disruption of a ciliary B9 protein complex causes Meckel syndrome
    William E Dowdle
    Department of Biochemistry and Biophysics, Cardiovascular Research Institute, University of California, San Francisco, 94158, USA
    Am J Hum Genet 89:94-110. 2011
  5. ncbi Basal encephalocele associated with morning glory syndrome: case report
    Ivanete Minotto
    Neuroradiology Ward, Image Diagnoses Department, Federal University of Sao Paulo, SP, Brazil
    Arq Neuropsiquiatr 65:988-91. 2007
  6. ncbi Outcome following decompressive craniectomy for malignant swelling due to severe head injury
    Bizhan Aarabi
    Department of Neurosurgery and R Adams Cowley Shock Trauma Center, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA
    J Neurosurg 104:469-79. 2006
  7. ncbi Incontinentia pigmenti with encephalocele in a neonate: a rare association
    Nihal Demirel
    Department of Neonatology, Dr Sami Ulus Children s Hospital, Ankara, Turkey
    J Child Neurol 24:495-9. 2009
  8. ncbi A girl with del(4)(q33) and occipital encephalocele: clinical description and molecular genetic characterization of a rare patient
    Roberto Quadrelli
    Instituto de Genetica Medica, Hospital Italiano, Montevideo, Uruguay
    Genet Test 11:4-10. 2007
  9. ncbi Bacterial meningitis secondary to a transethmoidal encephalocele presenting to the emergency department
    Michael D Schwartz
    Department of Emergency Medicine, University of Cincinnati, Cincinnati, Ohio 45267 0769, USA
    J Emerg Med 23:171-4. 2002
  10. ncbi The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
    Marion Delous
    Institut National de la Santé et de la Recherche Médicale INSERM U 574, Hopital Necker Enfants Malades, 75015 Paris, France
    Nat Genet 39:875-81. 2007

Research Grants

Detail Information

Publications250 found, 100 shown here

  1. ncbi Spontaneous cerebrospinal fluid rhinorrhoea in anteromedial temporal occult encephalocele
    G Vergoni
    Department of Neurosurgery, M. Bufalini Hospital, Cesena, Italy
    Br J Neurosurg 15:156-8. 2001
    ..of the floor of the middle cranial fossa and magnetic resonance imaging demonstrated a right temporal encephalocele. This was treated via extradural approach, and the bone defects were plugged with temporalis fascia, muscle ..
  2. ncbi Frontoethmoidal encephalomeningocoele with colpocephaly: case report and clinical review
    Abhinandan Bhattacharjee
    Otolaryngology Department, Silchar Medical College and Hospital, Silchar, Assam, India
    J Laryngol Otol 122:321-3. 2008
    ..Early diagnosis and referral, involving multidisciplinary teamwork, are of paramount importance because of the distorting influence of the extruding mass on facial growth...
  3. ncbi Secondary craniofacial reconstruction of huge frontoethmoidal encephalomeningocele after primary neurosurgical repair
    Wakako Nasu
    Department of Plastic and Reconstructive Surgery, Iwate Medical University, Faculty of Medicine, 19 1 Uchimaru, Morioka, Japan
    J Craniofac Surg 19:171-4. 2008
    ..We report on the surgical procedures and the problems encountered...
  4. pmc Disruption of a ciliary B9 protein complex causes Meckel syndrome
    William E Dowdle
    Department of Biochemistry and Biophysics, Cardiovascular Research Institute, University of California, San Francisco, 94158, USA
    Am J Hum Genet 89:94-110. 2011
    ..Mutations in human MKS1 cause Meckel syndrome (MKS), a severe ciliopathy characterized by occipital encephalocele, liver ductal plate malformations, polydactyly, and kidney cysts...
  5. ncbi Basal encephalocele associated with morning glory syndrome: case report
    Ivanete Minotto
    Neuroradiology Ward, Image Diagnoses Department, Federal University of Sao Paulo, SP, Brazil
    Arq Neuropsiquiatr 65:988-91. 2007
    ..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 ..
  6. ncbi Outcome following decompressive craniectomy for malignant swelling due to severe head injury
    Bizhan Aarabi
    Department of Neurosurgery and R Adams Cowley Shock Trauma Center, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA
    J Neurosurg 104:469-79. 2006
    ..The aim of this study was to assess outcome following decompressive craniectomy for malignant brain swelling due to closed traumatic brain injury (TBI)...
  7. ncbi Incontinentia pigmenti with encephalocele in a neonate: a rare association
    Nihal Demirel
    Department of Neonatology, Dr Sami Ulus Children s Hospital, Ankara, Turkey
    J Child Neurol 24:495-9. 2009
    ..We report a neonate with incontinentia pigmenti and encephalocele, as a feature of the central nervous system involvement, to stress this uncommon association.
  8. ncbi A girl with del(4)(q33) and occipital encephalocele: clinical description and molecular genetic characterization of a rare patient
    Roberto Quadrelli
    Instituto de Genetica Medica, Hospital Italiano, Montevideo, Uruguay
    Genet Test 11:4-10. 2007
    ..She showed facial and digital dysmorphism, a complex congenital heart defect, a large occipital encephalocele, and postnatal growth deficiency...
  9. ncbi Bacterial meningitis secondary to a transethmoidal encephalocele presenting to the emergency department
    Michael D Schwartz
    Department of Emergency Medicine, University of Cincinnati, Cincinnati, Ohio 45267 0769, USA
    J Emerg Med 23:171-4. 2002
    ..He was subsequently found to have pneumococcal meningitis as the result of an encephalocele located within the left ethmoid sinus...
  10. ncbi The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
    Marion Delous
    Institut National de la Santé et de la Recherche Médicale INSERM U 574, Hopital Necker Enfants Malades, 75015 Paris, France
    Nat Genet 39:875-81. 2007
    ..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...
  11. ncbi Morning glory syndrome and basal encephalocele
    Celia S Chen
    Department of Ophthalmology, Women s and Children s Hospital, 72 King William Road, SA 5006 North Adelaide, Australia
    Childs Nerv Syst 20:87-90. 2004
    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.
  12. ncbi Spontaneous middle fossa encephalocele and cerebrospinal fluid leakage: diagnosis and management
    Samuel P Gubbels
    Department of Otolaryngology Head and Neck Surgery, Oregon Health and Science University, Portland, Oregon 97239, USA
    Otol Neurotol 28:1131-9. 2007
    ..evaluate the clinical presentation, operative findings, and surgical management of patients with spontaneous middle fossa encephalocele (SMFE) and cerebrospinal fluid (CSF) leakage repaired using a middle fossa craniotomy (MFC) approach.
  13. ncbi Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis
    Borislav A Alexiev
    Department of Pathology, University of Maryland Medical System, Baltimore, Maryland 21201, USA
    Arch Pathol Lab Med 130:1236-8. 2006
    ..Typical sonographic findings (occipital encephalocele, postaxial polydactyly, and cystic enlargement of the kidneys) allow for diagnosis of most cases before the ..
  14. ncbi Congenital occipital encephalocele with Dabska tumor: report of an unusual case
    M Rumana
    Department of Pathology, Sher I Kashmir Institute of Medical Sciences, Srinagar, India
    Pediatr Neurosurg 48:48-50. 2012
    ..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...
  15. ncbi Spontaneous meningoencephalic herniation of the temporal bone: case series with recommended treatment
    John K Mayeno
    Kaise Permanente Head and Neck Surgery Residency Program, Oakland, California 91402 5497, USA
    Otolaryngol Head Neck Surg 130:486-9. 2004
  16. ncbi Management of meningoencephalic herniation of the temporal bone: Personal experience and literature review
    Mario Sanna
    Otology and Skull Base Surgery, Gruppo Otologico, Piacenza, Italy
    Laryngoscope 119:1579-85. 2009
    ..A review of the literature is also presented...
  17. ncbi Management of temporal bone meningo-encephalocoele
    K K Ramalingam
    Institute of ENT and Head and Neck, KKR ENT Hospital and Research Institute, Chennai, India
    J Laryngol Otol 122:1168-74. 2008
    ..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...
  18. ncbi Diagnosis and management of spontaneous cerebrospinal fluid-middle ear effusion and otorrhea
    N E Brown
    Department of Otolaryngology Head and Neck Surgery, Boston University School of Medicine and Boston Medical Center, Massachusetts 02118, USA
    Laryngoscope 114:800-5. 2004
    ..Data on nine cases of spontaneous CSF leak to the ear in adult patients from four medical centers are presented and analyzed to provide collective information about a disorder that can be difficult to diagnose and manage...
  19. ncbi Pathology of idiopathic encephaloceles into the middle ear
    Salvatore Iurato
    Department of Ophthalmology and Otolaryngology of the University of Bari, Section of Bioacoustics, Policlinico, Bari, Italy
    ORL J Otorhinolaryngol Relat Spec 64:73-9. 2002
    ....
  20. ncbi Management of brain herniation and cerebrospinal fluid leak in revision chronic ear surgery
    Christopher T Wootten
    Otology Group of Vanderbilt, Nashville, Tennessee 37203, USA
    Laryngoscope 115:1256-61. 2005
    ..This paper will discuss the presentation and management of brain herniation and/or CSF leak encountered in revision chronic ear surgery...
  21. ncbi Temporal bone brain herniation
    Roberto Bovo
    The Department of Audiology, Ferrara University, Ferrara, Italy
    Otol Neurotol 27:576-7. 2006
  22. ncbi Temporal bone encephaloceles
    Matthew T Sdano
    University of Cincinnati Medical Center, Department of Otolaryngology Head and Neck Surgery, University of Cincinnati Medical Center, Cincinnati, Ohio 45267, USA
    Curr Opin Otolaryngol Head Neck Surg 13:287-9. 2005
    ....
  23. ncbi Diagnosis and management of spontaneous cerebrospinal fluid otorrhea
    Arvin K Rao
    Department of Otolaryngology Head and Neck Surgery, West Virginia University School of Medicine, Morgantown, West Virginia, USA
    Otol Neurotol 26:1171-5. 2005
    ..To describe the clinical presentation, diagnosis, surgical management, and outcome of patients with spontaneous cerebrospinal fluid otorrhea...
  24. pmc Meckelin is necessary for photoreceptor intraciliary transport and outer segment morphogenesis
    Gayle B Collin
    Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA
    Invest Ophthalmol Vis Sci 53:967-74. 2012
    ..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...
  25. ncbi Transsellar transsphenoidal encephalocele: a series of four cases
    Yashpal S Rathore
    Department of Neurosurgery, C N Center, All India Institute of Medical Sciences, New Delhi, India
    Neurol India 59:289-92. 2011
    Transsellar transsphenoidal encephalocele is the least common type of basal encephalocele. We present a series of four cases of transsellar transsphenoidal encephalocele...
  26. ncbi Transsellar transsphenoidal rhino-oral encephalocele
    Okan Kahyaoğlu
    Sisli Etfal Education and Research Hospital, Neurosurgery Clinic, Istanbul, Turkey
    Turk Neurosurg 17:264-8. 2007
    ..We present a 1-year-old male patient with transsellar transsphenoidal encephalocele which herniated into the oral cavity through the congenital split palate...
  27. ncbi Persistent cerebrospinal fluid rhinorrhea by intrasphenoidal encephalocele
    E Peltonen
    Department of Neurosurgery Campus Benjamin Franklin, Charite Universitatsmedizin Berlin, Germany
    Zentralbl Neurochir 69:187-90. 2008
    ..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,..
  28. ncbi Transsellar transsphenoidal encephalocele: a case report
    Yashpal S Rathore
    Department of Neurosurgery, CN Center, All India Institute of Medical Sciences, New Delhi, India
    Pediatr Neurosurg 46:472-4. 2010
    ..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.
  29. ncbi Basal encephalocele associated with hypoplasia of the internal carotid artery
    Shinsaku Hasegawa
    Department of Neurosurgery, University of Toyama, Faculty of Medicine, Sugitani, Toyama, Japan
    Neurol Med Chir (Tokyo) 47:572-5. 2007
    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...
  30. ncbi Intrasphenoidal encephalocele associated with cerebrospinal fluid fistula and subdural hematomas: technical case report
    Bernardo Fraioli
    Department of Neuroscience, Neurosurgery, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy
    Neurosurgery 52:1487-90; discussion 1490. 2003
    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...
  31. pmc A gene for Meckel syndrome maps to chromosome 11q13
    J Roume
    Unité de Recherches sur les Handicaps Génétiques de lEnfant, INSERMU 393, France
    Am J Hum Genet 63:1095-101. 1998
    ..is a rare autosomal recessive lethal condition of unknown origin, characterized by (i) an occipital meningo-encephalocele with (ii) enlarged kidneys, with multicystic dysplasia and fibrotic changes in the portal area of the liver ..
  32. pmc Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle
    Jonna Tallila
    National Public Health Institute, Institute for Molecular Medicine Finland, Helsinki 00290, Finland
    Am J Hum Genet 82:1361-7. 2008
    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)...
  33. ncbi Physiological role of collagen XVIII and endostatin
    Alexander G Marneros
    Department of Cell Biology, Harvard Medical School, 240 Longwood Ave, Boston, Massachusetts 02115, USA
    FASEB J 19:716-28. 2005
    ..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 ..
  34. ncbi Spontaneous cerebrospinal fluid rhinorrhoea due to temporosphenoidal encephalocele
    Kerem Bikmaz
    Social Security Okmeydani Training Hospital, Istanbul, Turkey
    J Clin Neurosci 12:827-9. 2005
    ..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...
  35. ncbi Chiari-like tonsillar herniation associated with intracranial hypotension in Marfan syndrome. Case report
    Stephanie Puget
    Department of Pediatric Neurosurgery, Hopital Necker Enfants Malades, Paris, France
    J Neurosurg 106:48-52. 2007
    ..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...
  36. ncbi Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
    Carmen C Leitch
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733 N Broadway, Baltimore, Maryland 21205, USA
    Nat Genet 40:443-8. 2008
    ..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...
  37. ncbi Association of Chiari malformation type I and tethered cord syndrome: preliminary results of sectioning filum terminale
    Thomas H Milhorat
    Department of Neurosurgery, The Chiari Institute, Harvey Cushing Institutes of Neuroscience, North Shore Long Island Jewish Health System, Manhasset, NY 11030, USA
    Surg Neurol 72:20-35. 2009
    ..The pathogenesis of CM-I is incompletely understood. We describe an association of CM-I and TCS that occurs in a subset of patients with normal size of the PCF...
  38. ncbi A rare case of upper airway obstruction in an infant caused by basal encephalocele complicating facial midline deformity
    T Shimizu
    Department of Anaesthesiology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan
    Paediatr Anaesth 9:73-6. 1999
    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...
  39. ncbi Craniofacial surgery for giant frontonasal encephalocele in a neonate
    G D Satyarthee
    Department of Neurosurgery, All India Institute of Medical Science, New Delhi, India
    J Clin Neurosci 9:593-5. 2002
    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...
  40. ncbi Meckel-Grüber syndrome: sonography and pathology
    V Ickowicz
    Department of Pediatric Imaging, Charles Nicolle Hospital, Rouen, France
    Ultrasound Obstet Gynecol 27:296-300. 2006
    ..To define a specific sonographic pattern for the appearance of the kidneys in fetuses affected by Meckel-Grüber syndrome (MGS)...
  41. ncbi Spontaneous cerebrospinal fluid rhinorrhea associated with a far lateral temporal encephalocele--case report
    Atsushi Arai
    Department of Neurosurgery, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan
    Neurol Med Chir (Tokyo) 50:243-5. 2010
    ..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 ..
  42. ncbi Middle fossa approach to a temporosphenoidal encephalocele -technical note-
    Jae Eun Kwon
    Division of Skull Base Surgery, Department of Neurosurgery, Dongsan Medical Center, Keimyung University School of Medicine, Jung Gu, Daegu, Republic of Korea
    Neurol Med Chir (Tokyo) 50:434-8. 2010
    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...
  43. ncbi Pseudomeningocele and traumatic brain lesion following vacuum extraction delivery
    Thomas Kau
    LKH Klagenfurt, Roentgenzentralinstitut, St Veiter Strasse 47, 9020 Klagenfurt, Austria
    Arch Neurol 64:1048-9. 2007
  44. ncbi Single stage craniofacial reconstruction for fronto-nasal encephalocele and hypertelorism in an adult
    A Agrawal
    Department of Surgery, BP Koirala Institute of Health Sciences, Dharan, Nepal
    Singapore Med J 48:e215-9. 2007
    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...
  45. ncbi Tectocerebellar dysraphia and occipital encephalocele: an unusual association with abdominal situs inversus and congenital heart disease
    Sriram Krishnamurthy
    Department of Pediatrics, Maulana Azad Medical College and Associated Lok Nayak Hospital, New Delhi 110002, India
    Indian J Pediatr 75:1178-80. 2008
    Tectocerebellar dysraphia is a rare constellation of malformations comprising of occipital encephalocele, aplasia of the cerebellar vermis and deformity of the tectum...
  46. ncbi Transethmoidal transpharyngeal nasal encephalocele: Neuroimaging
    Deepak Kumar Gupta
    Department of Neurosurgery, All India Institute of Medical Sciences, New Delhi, India
    Pediatr Neurosurg 42:335-7. 2006
  47. ncbi Teratoma within an encephalocele: common etiology or coincidence. Case report
    Farid Radmanesh
    Department of Neurosurgery, Children s Hospital Medical Center, Tehran Medical Sciences University of Tehran, Iran
    J Neurosurg 107:263-5. 2007
    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...
  48. ncbi Neonatal airway management in occipital encephalocele
    Yogesh Manhas
    Anesth Analg 103:1632. 2006
  49. doi Airway management in neonates with occipital encephalocele: easy does it
    Zenaide Quezado
    Anesth Analg 107:1446. 2008
  50. ncbi Transsphenoidal encephalocele in a neonate
    Kailash Narasimhan
    Department of Otolaryngology, Case Western Reserve University School of Medicine, Cleveland, USA
    Ear Nose Throat J 85:420, 422. 2006
  51. ncbi Prognostic factors in patients with occipital encephalocele
    Nejmi Kiymaz
    Department of Neurosurgery, Yuzuncu Yil University, Medical School, Van, Turkey
    Pediatr Neurosurg 46:6-11. 2010
    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...
  52. ncbi Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin
    Olivier Menzel
    Division of Medical Genetics, University of Geneva Medical School and University Hospital of Geneva, Geneva, Switzerland
    Hum Mutat 23:77-84. 2004
    ..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...
  53. ncbi Posterior fontanelle giant encephalocele
    A K Mahapatra
    Department of Neurosurgery, Khoula Hospital, Mina Al Fahal, Muscat, Sultanate of Oman
    Pediatr Neurosurg 36:40-3. 2002
    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...
  54. ncbi Nasal glioma and encephalocele: diagnosis and management
    Reza Rahbar
    Department of Otolaryngology, Children s Hospital, 300 Longwood Avenue, Boston, MA 02115, USA
    Laryngoscope 113:2069-77. 2003
    To review the biology of nasal glioma and encephalocele and to present an algorithm for preoperative evaluation and surgical management.
  55. ncbi ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism
    H Van Esch
    Clin Genet 65:503-5. 2004
  56. ncbi Prevalence of encephalocele in Texas, 1999-2002
    Shu Wen
    Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, Texas, USA
    Am J Med Genet A 143:2150-5. 2007
    ..The etiology of encephalocele is considered to be complex, and in most cases the causes of this condition remain elusive...
  57. ncbi Giant occipital encephalocele with microcephaly and micrognathia
    Deepak Agrawal
    Department of Neurosurgery, Neurosciences Center, All India Institute of Medical Sciences, New Delhi, India
    Pediatr Neurosurg 40:205-6. 2004
  58. ncbi Dandy-Walker syndrome together with occipital encephalocele
    A Cakmak
    Department of Pediatrics, Harran University School of Medicine, Sanliurfa, Turkey
    Minerva Pediatr 60:465-8. 2008
    ..b>Encephalocele is diagnosed from the calvarium defect, cerebrospinal fluid (CSF) and herniation of the meninges...
  59. ncbi A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3
    A L Sertié
    Departamento de Biologia, Universidade de Sao Paulo, Brazil
    Hum Mol Genet 5:843-7. 1996
    ..by high myopia, vitreoretinal degeneration with retinal detachment, macular abnormalities and occipital encephalocele, was recently confirmed as autosomal recessive...
  60. ncbi Perioperative management of children with encephalocele: an institutional experience
    Charu Mahajan
    Department of Neuroanaesthesiology, All India Institute of Medical Sciences, New Delhi, India
    J Neurosurg Anesthesiol 23:352-6. 2011
    ..The inherent implications of pediatric anesthesia and difficult airway make surgical correction challenging for anesthesiologists..
  61. ncbi Encephalocele in Uganda: ethnic distinctions in lesion location, endoscopic management of hydrocephalus, and survival in 110 consecutive children
    Benjamin C Warf
    Department of Neurosurgery, Children s Hospital Boston, 300 Longwood Avenue, Boston, MA 02115, USA
    J Neurosurg Pediatr 7:88-93. 2011
    This study characterizes the first clinical series of encephalocele (EC) from East or Central Africa, and is the largest reported from the African continent...
  62. ncbi Cervical encephalocele in a newborn--Chiari III malformation. Case report and review of the literature
    J Haberle
    Department of Paediatrics, University of Munster, Albert Schweitzer Strasse 33, 48129 Munster, Germany
    Childs Nerv Syst 17:373-5. 2001
    ..Following a report on a newborn child with a Chiari III malformation that took a fatal but typical course the literature is reviewed...
  63. ncbi Gangrene of an occipital encephalocele
    Arvind Sinha
    Indian J Pediatr 72:451. 2005
  64. ncbi Airway management in neonates with occipital encephalocele: adjustments and modifications
    Nilanjan Dey
    Paediatr Anaesth 17:1119-20. 2007
  65. ncbi Surgical closure and reconstruction of a large occipital encephalocele without parenchymal excision
    Oliver Bozinov
    Department of Neurosurgery, Philipps University Hospital, Baldingerstrasse, 35033, Marburg, Germany
    Childs Nerv Syst 21:144-7. 2005
    ..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.
  66. ncbi Dandy Walker
    Olivier Klein
    J Neurosurg 102:353; author reply 353-4. 2005
  67. ncbi Transethmoidal intranasal meningoencephalocele in an adult with recurrent meningitis
    Takafumi Hasegawa
    Department of Neurology, Tohoku University School of Medicine, Sendai, Japan
    J Clin Neurosci 12:702-4. 2005
    ..He has had no further meningitis or CSF rhinorrhea post-operatively. Detailed neuroradiological examination and appropriate surgical treatment are important to prevent fatal neurological complications of intranasal meningoencephalocele...
  68. ncbi Endocrine abnormalities in patients with frontoethmoidal encephalomeningocele. A preliminary study
    S Wacharasindhu
    Endocrine Unit, Department of Pediatrics, Chulalongkorn Memorial Hospital, Chulalongkorn University, Bangkok, Thailand
    Horm Res 64:64-7. 2005
    ..Frontoethmoidal encephalomeningocele (FEEM) is a congenital neural tube defect which is more common in Southeast Asia. Its etiology is unknown. No one has ever reported endocrine abnormalities in this condition...
  69. ncbi Spontaneous bilateral intrasphenoidal lateral encephaloceles: CT and MRI findings
    Ahmet Kemal Firat
    Department of Radiology, The University of Texas Southwestern Medical Center at Dallas, USA
    Ear Nose Throat J 83:831-3. 2004
    ..We discuss our clinical findings and the results of preoperative computed tomography and magnetic resonance imaging...
  70. ncbi Partial rhombencephalosynapsis and Chiari II malformation
    S M Y Wan
    Department of General Surgery, Norfolk and Norwich University Hospital, Norwich, United Kingdom
    Hong Kong Med J 11:299-302. 2005
    ..We report a rare case of partial rhombencephalosynapsis coexistent with Chiari II malformation in a 6-year-old girl and discuss the features of these entities on magnetic resonance imaging...
  71. ncbi Cerebrospinal fluid leakage during dacryocystorhinostomy in a patient with meningoencephalocele
    A Bagheri
    Department of Ophthalmology and Ophthalmic Research Center, Labbafinejad Medical Center, Shaheed Beheshti University of Medical Sciences, Tehran Iran
    Eur J Ophthalmol 15:500-3. 2005
    ..To report a rare case of cerebrospinal fluid leakage during dacryocystorhinostomy in a patient with Mobius syndrome and meningoencephalocele and to explain our experience in the management of this complication...
  72. ncbi Anterior encephaloceles: a study of 92 cases
    A K Mahapatra
    Department of Neurosurgery, Neurosciences Center, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India
    Pediatr Neurosurg 36:113-8. 2002
    Anterior encephalocele is a rare condition, and only a few large series have been published in the literature. Surprisingly, the incidence is much higher in Southeast Asian countries, including some parts of India...
  73. ncbi Adult intranasal meningoencephalocele presenting as a nasal polyp
    K Krishna Kumar
    Department of Otorhinolaryngology, Sundaram Medical Foundation, Chennai, India
    J Clin Neurosci 12:594-6. 2005
    ..Based on a review of the literature, we emphasize that nasal obstruction may be the only presenting symptom of an intranasal meningoencephalocele...
  74. ncbi Extracranial correction of frontoethmoidal meningoencephaloceles: feasibility and outcome in 52 consecutive cases
    Charlotte Holm
    Department of Plastic, Reconstructive, and Hand Surgery, Burn Center, Klinikum Bogenhausen, Technical University Munich, Munich, Germany
    Plast Reconstr Surg 121:386e-395e. 2008
    ..Conventional surgical therapy includes extracranial and intracranial approaches with frontal craniotomy or trepanation of the frontal bone...
  75. ncbi [Spontaneous defects of the lateral cranial base. 1. Clinical aspects, diagnosis and therapy]
    J P Windfuhr
    Klinik für HNO Krankheiten, Kopf, Hals und Plastische Gesichtschirurgie, Malteser Krankenhaus St Anna, Albertus Magnus Strasse 33, 47259 Duisburg
    HNO 50:433-40. 2002
    ..The purpose of this paper is to review the literature and to present two additional case reports with emphasis on diagnostic problems and surgical techniques...
  76. ncbi [Surgery at the skull base with transnasal endoscopic control]
    Gregor Bachmann-Harildstad
    Øre nese halsavdelingen, Universitetssykehuset Nord Norge, 9038 Tromsø
    Tidsskr Nor Laegeforen 128:1958-60. 2008
    ..Patients do not have visible scars and have less postoperative pain after endoscopic surgery and a decreased postoperative morbidity in general results in a shorter hospital stay...
  77. ncbi Clinical utility of intraoperative volume computed tomography scanner for endoscopic sinonasal and skull base procedures
    Pete S Batra
    Section of Nasal and Sinus Disorders, Cleveland Clinic Head and Neck Institute, Cleveland, Ohio 44195, USA
    Am J Rhinol 22:511-5. 2008
    ..The purpose of this study was to assess the clinical utility of intraoperative volume computed tomography (CT) scanning in endoscopic sinonasal and skull base procedures...
  78. ncbi Pediatric meningoencephaloceles and nasal obstruction: a case for endoscopic repair
    Seth J Kanowitz
    Head and Neck Institute, Section of Nasal and Sinus Disorders, Cleveland Clinic, Cleveland, OH, United States
    Int J Pediatr Otorhinolaryngol 70:2087-92. 2006
    ..However, owing to the rarity of these lesions, there is a paucity of data demonstrating successful adaptation of endoscopic skull base techniques to the pediatric population...
  79. ncbi A complex therapy for treatment of frontoethmoidal meningoencephalocele in a developing third world country: neurosurgical aspects
    Thomas Pinzer
    Departments of Neurosurgery and Cranio maxillofacial Surgery, Carl Gustav Carus University Hospital, Dresden, Germany
    J Neurosurg 104:326-31. 2006
    ..The authors combined neurosurgical and craniofacial approaches for the development of a simple technique that corrects this type of meningoencephalocele in a one-step procedure that has not been discussed in the literature previously...
  80. ncbi Endonasal endoscopic management of a large meningocephalocele in a patient with concomitant middle skull base defect
    J A González-García
    Otologic Research Group, Department of ENT, Hospital Universitario Puerta de Hierro, Madrid, Spain
    Minim Invasive Neurosurg 49:309-11. 2006
    ..presence of a skull base defect can lead to major complications such as cerebrospinal fluid leak, meningocele, encephalocele and meningitis. It is exceptional to find the existence of two concomitant defects in the skull base...
  81. ncbi Resection of anterior orbital meningoencephalocele in a newborn infant
    Thomas A Bersani
    S U N Y Upstate Medical University, Syracuse, New York, USA
    Ophthal Plast Reconstr Surg 22:391-3. 2006
    ..Prognosis is excellent unless associated with other comorbid conditions such as Dandy-Walker syndrome, holoprosencephaly, or agenesis of the corpus callosum...
  82. ncbi Spontaneous meningoencephalocele of the tegmen
    Menachem Gross
    Department of Otolaryngology Head and Neck Surgery, Hadassah University Hospital, Jerusalem, Israel
    Otol Neurotol 27:578-9. 2006
  83. ncbi Correction of the frontoethmoidal encephalomeningocele with minimal facial incision: modified Chula technique
    Nond Rojvachiranonda
    Division of Plastic and Reconstructive Surgery, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
    J Craniofac Surg 17:353-7. 2006
    ..This study demonstrates a possibility of doing definitive surgery with minimal facial incision...
  84. ncbi A new technique for the repair and reconstruction of frontoethmoidal encephalomeningoceles by medial orbital composite-unit translocation
    S Boonvisut
    Division of Plastic Surgery, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand
    Br J Plast Surg 54:93-101. 2001
    ..Augmentation rhinoplasty can be avoided in most cases by tilting the composite unit with its preserved blood supply...
  85. ncbi Management of cerebral vascular structures during endoscopic treatment of encephaloceles: a clinical report
    William E Bolger
    Department of Surgery, Division of Otolaryngology, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA
    Ann Otol Rhinol Laryngol 115:167-70. 2006
    ..With its more widespread and frequent use, unusual cases and potential complications are becoming more apparent...
  86. ncbi [Meningoencephalocele as the causation of recurring meningitis in infants]
    B Carro-Alonso
    Servicio de Radiodiagnostico, Hospital Clinico Universitario Lozano Blesa, 50009 Zaragoza, Espana
    Rev Neurol 44:440-1. 2007
  87. ncbi [Management of occult malformations at the lateral skull base]
    E Bryson
    Klinik für Hals Nasen Ohrenkrankheiten, Kopf, Hals und Plastische Gesichtschirurgie, Kommunikationsstörungen, Klinikum Fulda gAG, Akademisches Lehrkrankenhaus der Philipps Universität Marburg
    Laryngorhinootologie 84:921-8. 2005
    ..Occult malformations of the lateral skull base are rare anomalies, but can cause severe complications such as recurrent meningitis. Therefore, they need to be precisely delineated and sufficient surgical closure is mandatory...
  88. ncbi CSF Rhinorrhea and recurrent meningitis caused by transethmoidal meningoencephaloceles
    Parul Garg
    Department of Radiology and Imaging and Pediatrics, University College of Medical Sciences and GTB Hospital, Dilshad Garden, New Delhi 110 092, India
    Indian Pediatr 42:1033-6. 2005
    ..We report two children presenting with intermittent CSF rhinorrhea and recurrent meningitis. CT scan showed transethmoidal meningoencephalocele...
  89. ncbi Urgent surgical intervention in pediatric patients with Chiari malformation type I. Report of two cases
    John C Wellons
    Division of Neurosurgery, Section of Pediatric Neurosurgery, Children s Hospital, Birmingham, Alabama 35233, USA
    J Neurosurg 107:49-52. 2007
    ..Although seemingly rare, the clinician should consider CM-I in the differential diagnosis in pediatric patients presenting with acute brainstem or long tract signs...
  90. ncbi Perioperative management for surgical correction of frontoethmoidal encephalomeningocele in children: a review of 102 cases
    Ruenreong Leelanukrom
    Department of Anesthesiology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
    Paediatr Anaesth 17:856-62. 2007
    ..The extruding mass results in a cutaneous expanding lesion and facial deformity. The objective of this study was to review perioperative management for surgical correction of this condition...
  91. ncbi A case of schizencephaly presenting with unilateral cryptophthalmos
    I Oztoprak
    Department of Radiology, Faculty of Medicine, Cumhuriyet University, Sivas, Turkey
    Br J Radiol 81:e40-3. 2008
    ..We describe an unusual case of schizencephaly associated with unilateral orbital meningoencephalocele, anophthalmos, orbital soft mass, cryptophthalmos and partial agenesis of corpus callosum, along with ectopic kidney and thumb anomaly...
  92. ncbi [Rare case of congenital transsphenoidal meningoencephalocele causing respiratory problems]
    Mihály Fücsek
    Petz Aladár Megyei Oktató Kórház, Csecsemó és Gyermekgyógyászati Központ, Gyor
    Orv Hetil 145:483-9. 2004
    ..Congenital meningoencephalocele is a rare and severe malformation...
  93. ncbi Brainstem distortion from postoperative cerebellar herniation through a dural and bony defect
    Craig Timms
    Department of Neurosurgery and Radiology, University of Melbourne, Fitzroy, Victoria 3065, Australia
    J Clin Neurosci 15:1050-1. 2008
    We report a patient with a cerebellar encephalocele following excision of a cerebellar metastasis. This is a life-threatening condition that may be prevented with adequate dural and bony closure.
  94. ncbi Nontraumatic skull base defects with spontaneous CSF rhinorrhea and arachnoid herniation: imaging findings and correlation with endoscopic sinus surgery in 27 patients
    B Schuknecht
    MRI Medical Radiological Institute Zurich, Bethanien Clinic and Bahnhofplatz, Zurich, Switzerland
    AJNR Am J Neuroradiol 29:542-9. 2008
    ..The purpose of our study was to correlate CT and MR findings regarding the location and content of CSF leaks in 27 patients with endoscopic sinus surgery observations...
  95. ncbi A case of meningoencephalic herniation of the temporal bone
    Shigeru Kasugai
    Department of Otolaryngology, St Marianna University, Yokohama City Seibu Hospital, 1197 1, Yasashi cho, Asahi ku, 241 0811, Yokohama, Japan
    Auris Nasus Larynx 30:S103-5. 2003
    ..Computed tomography and magnetic resonance imaging were useful for a diagnosis of meningoencephalic herniation. After surgical treatment, no recurrence was observed during a 6-month follow-up period...
  96. ncbi Frontoethmoidal encephalomeningocele: surgical correction by the Chula technique
    Charan Mahatumarat
    Division of Plastic and Reconstructive Surgery, Department of Surgery, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
    Plast Reconstr Surg 111:556-65; discussion 566-7. 2003
    ..8 percent; and postoperative increased intracranial pressure, 2.8 percent) were much less frequent than in other reports. With a mean follow-up period of 439 days (maximum, 12 years), there has been no recurrence...
  97. ncbi [The role of high-resolution computed tomography (HRCT) and magnetic resonance imaging (MRI) in the diagnosis of preoperative and postoperative complications caused by acquired cholesteatomas]
    C Krestan
    Abteilung für Osteologie, Univ Klinik fur Radiodiagnostik, AKH Wien, Vienna, Austria
    Radiologe 43:207-12. 2003
    ..Postoperative MRI delineated neuritis of the facial nerve, labyrinthitis, and a meningo-encephalocele protruding into the middle ear...
  98. ncbi Growing burr hole: enlarging pseudomeningocele at the site of a craniostomy
    David H Harter
    Department of Neurosurgery, New York Medical College, Valhalla and New York, NY 10595, USA
    Childs Nerv Syst 20:127-30. 2004
    ..We report here on a 10-month-old girl who presented with an enlarging burr hole and pseudomeningocele after an endoscopic third ventriculocisternostomy...
  99. ncbi Post-traumatic pseudomeningocele of the orbit in a young child
    Raj Kumar
    Department of Neurosurgery, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, UP, India
    J Pediatr Ophthalmol Strabismus 40:110-2. 2003
  100. ncbi Frontoethmoidal encephalomeningocele: new morphological findings and a new classification
    Nond Rojvachiranonda
    Chulalongkorn Craniofacial Center, Division of Plastic and Reconstructive Surgery, Department of Surgery, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
    J Craniofac Surg 14:847-58. 2003
    ..Each clinical entity is a final result of its own disease course (stable, progressive, or regressive FEEM), with a varying degree of communication between the external mass and the central nervous system...
  101. ncbi Telecanthus and hypertelorism in frontoethmoidal meningoencephaloceles and the surgical correction of these conditions: Part II. A novel surgical approach in the treatment of telecanthus
    Thomas Pinzer
    Department of Neurological Surgery, Carl Gustav Carus University Hospital Dresden, Fetscherstrasse 74, Dresden, Germany
    J Craniofac Surg 19:148-55. 2008
    ..The mean follow-up was 9 months (range: 5-16 months). The reader is further referred to our previous paper for interpreting the orbital measurement values in Khmer Cambodians as pertinent to TC or HT...

Research Grants18

  1. Neural Tube Defects Conference 2007 and Beyond
    Marcy Speer; Fiscal Year: 2007
    ..most common forms of NTDs, spina bifida and anencephaly, as well as other less frequent manifestations such as encephalocele, craniorachischisis, and iniencephaly...
  2. Neural Tube Defects Conference 2005 and Beyond
    Marcy Speer; Fiscal Year: 2005
    ..most common forms of NTDs, spina bifida and anencephaly, as well as other less frequent manifestations such as encephalocele, craniorachischisis, and iniencephaly...
  3. Neural Tube Defects 2001 and Beyond
    Marcy Speer; Fiscal Year: 2001
    ..common forms of NTDs, spina bifida and anencephaly, as well as other less frequent manifestations, such as encephalocele, craniorachischisis, and iniencephaly...
  4. Neural Tube Defects 2003 and Beyond
    Marcy Speer; Fiscal Year: 2003
    ..most common forms of NTDs, spina bifida and anencephaly, as well as other less frequent manifestations such as encephalocele, craniorachischisis, and iniencephaly...
  5. Advances in Midbrain/Hindbrain Malformations
    Joseph Gleeson; Fiscal Year: 2005
    ..The information content will be made available on the Internet. Thus this Meeting will serve as a resource for both the scientific and lay community throughout the world. ..
  6. Mechanism and Function of Heyl in Neurogenesis
    Ali Jalali; Fiscal Year: 2008
    ..These studies will further our understanding of the underlying biology of neural stem cells and nervous system development. ..
  7. MOLECULAR BASIS OF HEREDITARY NEURALGIC AMYOTROPHY
    PHILLIP CHANCE; Fiscal Year: 2008
    ..Moreover, characterization of the HNA gene may have broader pathophysiological and therapeutic implications for more common idiopathic forms of brachial neuropathy. [unreadable] [unreadable]..
  8. Phase II Clinical Trial Assessing Efficacy and Safety of Oral Steroids vs. Vincri
    Beth Drolet; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..
  9. Optical imaging of epilepsy in rat and human neocortex
    THEODORE SCHWARTZ; Fiscal Year: 2007
    ..These experiments will set the groundwork for implementing optical recordings in general clinical practice as a novel technique for mapping and predicting human seizures. ..
  10. Molecular basis of Joubert syndrome and related diseases
    Melissa Parisi; Fiscal Year: 2007
    ..abstract_text> ..
  11. Identification and characterization of the ALS4 gene
    PHILLIP CHANCE; Fiscal Year: 2006
    ..Specific Aim (5) is to develop an animal model of ALS4 by introducing an identified disease-causing mutation into the germline of the mouse by employing either transgenesis or gene targeting. ..
  12. Roles of TBX3 and its Isoform, TBX3+2a, in Breast Cancer
    Taosheng Huang; Fiscal Year: 2005
    ..By working with both an animal model and tissue acquired from breast surgeries, the proposed research aims to optimize the clinical relevance of the work. ..
  13. Therapeutic Placebos as Complementary Therapy in ADHD
    Adrian Sandler; Fiscal Year: 2004
    ....
  14. INFRASTRUCTURE FOR RESEARCH ON MENTAL DISABILITIES
    Roger Stevenson; Fiscal Year: 2003
    ....
  15. Study on the intracellular Network of TBX3
    Taosheng Huang; Fiscal Year: 2010
    ..Elucidation of the TBX3- HDAC interaction will deepen our understanding of the functions of TBX3 and may also lead to the identification of a novel therapeutic target for breast cancer. ..
  16. Molecular Mechanisms of Neuronal Migration
    Joseph Gleeson; Fiscal Year: 2006
    ..2) DCX and LIS1 function to regulate nuclear movement during neuronal migration. 3) DCX is regulated by cdk5 during neuronal migration. ..
  17. Patient-Oriented Research in Recessive Pediatric Brain Diseases
    Joseph Gleeson; Fiscal Year: 2008
    ....
  18. Pathogenesis of Neurotropic RNA Virus Infections
    Glenn Rall; Fiscal Year: 2006
    ..Understanding the mechanism by which this occurs will inform the development of immune-based strategies to resolve viral infections associated with human mental illness and disease. ..