UpToDate
Official reprint from UpToDate®
www.uptodate.com ©2016 UpToDate®

Primary (congenital) encephalocele

Authors
Tadanori Tomita, MD
Hideki Ogiwara, MD, PhD
Section Editors
Marc C Patterson, MD, FRACP
Leonard E Weisman, MD
Deputy Editor
Carrie Armsby, MD, MPH

INTRODUCTION

An encephalocele is a protrusion of the brain and/or meninges through a defect in the skull (cranium bifidum) that is “closed” or covered with skin. Encephalocele is one of the three most common neural tube defects (NTDs). The epidemiology, clinical features, diagnosis, and management of encephaloceles are discussed in this topic review.

The other main types of NTDs are anencephaly and myelomeningocele, which are discussed in separate topic reviews:

Anencephaly, which is an open NTD as the affected region of the cranial neural tube is exposed to the body surface. It is a severe defect, and is not compatible with survival. (See "Anencephaly".)

Myelomeningocele, which is characterized by a cleft in the vertebral column, with a corresponding defect in the skin so that the meninges and spinal cord are exposed. (See "Pathophysiology and clinical manifestations of myelomeningocele (spina bifida)" and "Overview of the management of myelomeningocele (spina bifida)".)

CLASSIFICATION

In this topic review we will use the term “encephalocele” to describe lesions that include brain and/or meninges. Some authors use the more general term “cephalocele,” and reserve the term “encephalocele” for lesions that include brain and “meningocele” for those that include only meninges [1].  

                 

Subscribers log in here

To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information or to purchase a personal subscription, click below on the option that best describes you:
Literature review current through: Nov 2016. | This topic last updated: Thu Jun 25 00:00:00 GMT+00:00 2015.
The content on the UpToDate website is not intended nor recommended as a substitute for medical advice, diagnosis, or treatment. Always seek the advice of your own physician or other qualified health care professional regarding any medical questions or conditions. The use of this website is governed by the UpToDate Terms of Use ©2016 UpToDate, Inc.
References
Top
  1. Towgifhi J. Cephaloceles. MedLink Neurology 1995 (updated 12/2010). Available at: http://www.medlink.com/medlinkcontent.asp (Accessed on November 15, 2011).
  2. Albert L Jr, DeMattia JA. Cocaine-induced encephalocele: case report and literature review. Neurosurgery 2011; 68:E263.
  3. Di Rocco F, Couloigner V, Dastoli P, et al. Treatment of anterior skull base defects by a transnasal endoscopic approach in children. J Neurosurg Pediatr 2010; 6:459.
  4. Antonelli V, Cremonini AM, Campobassi A, et al. Traumatic encephalocele related to orbital roof fractures: report of six cases and literature review. Surg Neurol 2002; 57:117.
  5. Ng JD, Payner TD, Holck DE, et al. Orbital trauma caused by bicycle hand brakes. Ophthal Plast Reconstr Surg 2004; 20:60.
  6. Sadler TW. Langman's Medical Embryology, Lippincott Williams & Wilkins, Philadelphia 1990. p.352.
  7. Czeizel AE, Dudás I. Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N Engl J Med 1992; 327:1832.
  8. Hoving EW, Vermeij-Keers C. Frontoethmoidal encephaloceles, a study of their pathogenesis. Pediatr Neurosurg 1997; 27:246.
  9. Francis-West PH, Robson L, Evans DJ. Craniofacial development: the tissue and molecular interactions that control development of the head. Adv Anat Embryol Cell Biol 2003; 169:III.
  10. Tavella S, Bobola N. Expressing Hoxa2 across the entire endochondral skeleton alters the shape of the skeletal template in a spatially restricted fashion. Differentiation 2010; 79:194.
  11. Siffel C, Wong LY, Olney RS, Correa A. Survival of infants diagnosed with encephalocele in Atlanta, 1979-98. Paediatr Perinat Epidemiol 2003; 17:40.
  12. Jimenez DF, Barone CM. Encephaloceles, meningoceles, and dermal sinuses. In: Principles and Practice of Pediatric Neurosurgery, Albright AL, Pollack IF, Adelson PD (Eds), Thieme Medical Publishers, New York 1999. p.189.
  13. Bassuk AG, McLone D, Bowman R, Kessler JA. Autosomal dominant occipital cephalocele. Neurology 2004; 62:1888.
  14. Richards CG. Frontoethmoidal meningoencephalocele: a common and severe congenital abnormality in South East Asia. Arch Dis Child 1992; 67:717.
  15. David DJ. Cephaloceles: classification, pathology, and management--a review. J Craniofac Surg 1993; 4:192.
  16. Simpson DA, David DJ, White J. Cephaloceles: treatment, outcome, and antenatal diagnosis. Neurosurgery 1984; 15:14.
  17. Cohen MM Jr, Lemire RJ. Syndromes with cephaloceles. Teratology 1982; 25:161.
  18. Brown MS, Sheridan-Pereira M. Outlook for the child with a cephalocele. Pediatrics 1992; 90:914.
  19. Volpe JJ. Intracranial hemorrhage: Neural tube formation and prosencephalic development. In: Neurology of the Newborn, 4th, WB Saunders, Philadelphia 2001. p.3.
  20. Lo BW, Kulkarni AV, Rutka JT, et al. Clinical predictors of developmental outcome in patients with cephaloceles. J Neurosurg Pediatr 2008; 2:254.
  21. Graham D, Johnson TR Jr, Winn K, Sanders RC. The role of sonography in the prenatal diagnosis and management of encephalocele. J Ultrasound Med 1982; 1:111.
  22. Humphreys RP. Encephalocele and dermal sinuses. In: Pediatric Neurosurgery, 3rd, Cheek WR (Ed), WB Saunders, Philadelphia 1994.
  23. Gallo AE Jr. Repair of giant occipital encephaloceles with microcephaly secondary to massive brain herniation. Childs Nerv Syst 1992; 8:229.
  24. Oi S, Saito M, Tamaki N, Matsumoto S. Ventricular volume reduction technique--a new surgical concept for the intracranial transposition of encephalocele. Neurosurgery 1994; 34:443.
  25. 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.
  26. French BN. Midline fusion defects and defects of formation. In: Neurological Surgery, Youmans JR (Ed), WB Saunders, Philadelphia 1990. p.1164.
  27. Kiymaz N, Yilmaz N, Demir I, Keskin S. Prognostic factors in patients with occipital encephalocele. Pediatr Neurosurg 2010; 46:6.
  28. Aquilina K, Clarke DF, Wheless JW, Boop FA. Microencephaloceles: another dual pathology of intractable temporal lobe epilepsy in childhood. J Neurosurg Pediatr 2010; 5:360.
  29. Faulkner HJ, Sandeman DR, Love S, et al. Epilepsy surgery for refractory epilepsy due to encephalocele: a case report and review of the literature. Epileptic Disord 2010; 12:160.