Anencephaly and encephalocele Authors Tadanori Tomita, MD Hideki Ogiwara, MD, PhD Section Editors Marc C Patterson, MD,

FRACP Leonard E Weisman, MD Deputy Editor Alison G Hoppin, MD Disclosures Last literature review version 19.2: May 2011 |This topic last updated: June 17, 2011 (More) INTRODUCTION Myelomeningocele, anencephaly, and encephalocele are the most common NTDs. Anencephaly 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. Encephalocele is a herniation of the brain and/or meninges through a defect in the skull (cranium bifidum) that is closed or covered with skin. The clinical features, diagnosis, and management of these conditions are discussed here. Myelomeningocele is discussed in separate topic reviews. (See "Pathophysiology and clinical manifestations of myelomeningocele (spina bifida)" and "Overview of the management of myelomeningocele (spina bifida)".) EMBRYOLOGY OF THE NEURAL TUBE The central nervous system (CNS) appears as a plate of thickened ectoderm called the neural plate at the beginning of the third week of embryonic life. The lateral edges of the neural plate become elevated to form the neural folds and fuse to form the neural tube; the fusion begins in the cervical region and proceeds in both the rostral and caudal directions (figure 1). The rostral neuropore closes on the 25th day after conception, and the caudal neuropore closes two days later [1]. Neural tube defects (NTDs) result from failure of the neural tube closure between 25 and 28 days after conception. The embryology of the neural tube is discussed in a separate topic review. (See "Pathogenesis and types of occult spinal dysraphism", section on 'Normal cord development in humans'.) ANENCEPHALY Anencephaly is a severe defect of development of the neuraxis, in which the developing forebrain and variable amounts of the brainstem are exposed in utero and fail to develop or are destroyed [2,3]. It results from failure of the rostral neuropore to close [4]. Incidence According to data from birth certificates reported to the National Center for Health Statistics, the prevalence of anencephaly in the United States in 2001 was 9.40 per 100,000 live births [5]. During 1999 to 2004, 2116 cases of anencephaly were reported in

the United States [6]. Hispanic infants had the highest prevalence. The malformation is more common in girls than boys, in whites than blacks, and in mothers at the younger and older extremes of age [7]. The rate of anencephaly in live births underestimates the actual rate of occurrence because of unknown numbers of spontaneous abortion or pregnancy termination of affected fetuses. The birth prevalence of anencephaly decreased 20 percent between the 1999 to 2000 period and the 2003 to 2004 survey periods [6]. This decline is thought to be due to mandatory fortification of foods with folic acid, which began in January 1998. There is considerable variation in the rates of anencephaly and other NTDs worldwide, with particularly high prevalence in Ireland and the British Islands as compared with continental Europe [8]. Rates in Asia and Africa tend to be lower, although there are pockets of higher prevalence in the northern provinces of China and in India, which are not easily explained by geographic or ethnic gradients [9]. Inheritance The risk of recurrence for NTDs (spina bifida or anencephaly) is approximately 2 to 4 percent when there is one affected sibling [10-14]. With two affected siblings, the risk is approximately 10 percent [15]. The risk of recurrence appears to be higher in countries such as Ireland where the prevalence of NTDs is high [16]. Prenatal diagnosis Prenatal diagnosis is accomplished by maternal screening of serum alpha-fetoprotein (AFP) levels and ultrasonography. Prenatal detection usually is followed by termination of the pregnancy. The sonographic diagnosis of anencephaly is based upon the absence of brain and calvarium superior to the orbits on coronal views of the fetal head. The sonographic diagnosis of this condition is highly accurate and should not be missed on any routine second- or thirdtrimester ultrasound examination. Another sonographic feature is polyhydramnios, which develops in up to 50 percent of the cases during the second and third trimester due to decreased fetal swallowing. (See "Ultrasound diagnosis of neural tube defects", section on 'Anencephaly'.) Clinical features In the most common type, the forebrain and variable amounts of upper brainstem are involved [7]. Exposure in utero results in destruction of neural tissue, which appears as a hemorrhagic, fibrotic, nonfunctioning mass (picture 1). Major portions of the CNS are absent or malformed. The hypothalamus is typically missing. The cerebellum, brainstem, optic nerves, and spinal cord may be malformed. Underdevelopment or absence of the pituitary leading to adrenal hypoplasia is always present [17]. Large portions of the cranium are absent in this disorder. The frontal, parietal, and portions of the occipital bones are most often affected. The absent cranial vault results in the

characteristic appearance of bulging eyes and absent neck. The defect in the skull sometimes extends through the level of the foramen magnum and involves the cervical spine. This abnormality is known as holoacrania [7]. Associated malformations Other congenital malformations frequently accompany anencephaly. In a registry of 456 affected stillborn and liveborn infants in British Columbia, additional malformations, including cleft lip and/or palate or omphalocele, occurred in 12.7 percent [18]. Craniofacial and ocular anomalies often occur. Cardiac, pulmonary, renal, and skeletal malformations may be associated. Aganglionosis is a frequent finding [19]. Neurologic function Neonates with anencephaly typically have brainstem function, with spontaneous breathing and often with suck, root, and gag responses. However, they are permanently unconscious. Without intensive care, the majority of them die within two days of birth, and none survive longer than two weeks [7]. Management There are no neurosurgical management options. Since anencephalic infants can survive for no more than a few weeks, and in most developed countries where abortion is legal these pregnancies are interrupted earlier, prevention is the most important in its management. Because of their poor prognosis, anencephalic infants have been considered as potential organ donors for transplantation. To assess the feasibility of this approach, one group modified the medical care of 12 live-born anencephalic infants for one week to determine whether organ viability could be maintained and whether the criteria of total brain death could be met. Among six anencephalic infants who received intensive care during the first week after birth, organ function was maintained, but five were not candidates for organ donation because they had persistent brainstem activity. Among six other infants who did not receive intensive care during the first week of life, most organs were damaged, precluding organ donation. These findings suggest that anencephalic infants are not good candidates for organ donation because they do not generally meet criteria for brain death until their clinical condition has declined to the point where the solid organs are damaged [20]. Prevention Several lines of evidence suggest a link between folic acid deficiency and the development of NTDs including anencephaly. Risk factors for NTDs include dietary deficiency of folic acid, administration of folic acid antagonists such as trimethoprim, carbamazepine, phenytoin and phenobarbital, and genetic polymorphisms in genes encoding folatedependent enzymes. Moreover, randomized trials have consistently shown that folic acid supplementation reduces the incidence of NTDs. (See "Folic acid for prevention of neural tube defects", section on 'Pathogenesis'.)

Other contributors to NTD risk that are probably not related to folate metabolism include maternal diabetes mellitus with poor glycemic control during the first trimester, hyperthermia, and some genetic syndromes. (See "Folic acid for prevention of neural tube defects", section on 'Treatment failures' and "Pregnancy risks in women with type 1 and type 2 diabetes mellitus", section on 'Congenital malformations'.) Periconceptional folic acid supplementation is recommended for all women who are pregnant or who may become pregnant. Higher doses of folic acid supplements are usually recommended for women who are taking anticonvulsant drugs or who have had a previous pregnancy affected by a NTD. (See "Folic acid for prevention of neural tube defects", section on 'Folic acid supplementation'.) ENCEPHALOCELE An encephalocele is a type of malformation in which there are calvarial and dural defects with extracranial herniation of leptomeninges and sometimes of brain and cerebrospinal fluid (CSF). The mechanism causing congenital encephalocele is uncertain, although it involves defective closure of the anterior neural tube. Onset of the most severe lesions likely occurs prior to 26 days after conception; less severe lesions that primarily involve skull or meninges may occur later [21]. Nasofrontal lesions are thought to result from defective separation of neural and surface ectoderm at the site of final closure of the rostral neuropore [22]. Classification Classification of encephalocele is based on the cause and anatomical location of the skull defect. Primary encephaloceles are congenital and present at birth. Primary encephaloceles are divided into three major types: Sincipital (fronto-ethmoidal) Basal (trans-sphenoidal, spheno-ethmoidal, trans-ethmoidal, and spheno-orbital) (picture 2) Occipital (picture 3A-B) Secondary encephaloceles are acquired and commonly due to trauma or a postsurgical defect [23-26]. Incidence Encephalocele is less common than other neural tube defects. Its prevalence has been estimated at 0.8 to 5 per 10,000 live births. In a report from the Metropolitan Atlanta Congenital Defects Program, 115 cases were identified from 701,458 live births during 1979 to 1998, a prevalence of 1.64 per 10,000 live births [27]. These cases included 91 liveborn infants, 18 stillbirths, and six elective terminations (likely an underestimate). Males and females were equally affected.

Occipital encephaloceles are the most frequent type in North America and Western Europe, where about 85 percent of encephaloceles take this form [28]. Their incidence ranges between 1 in 3000 to 1 in 10,000 live births. On the other hand, in Southeast Asia, parts of Russia, and central Africa, anterior encephaloceles are more frequent (1 in 3500 to 1 in 5000) than the occipital type. The true incidence of secondary encephaloceles is not known. Inheritance Isolated encephaloceles (ie, those that are not associated with other congenital anomalies) have generally not been shown to be familial. One exception is an autosomal dominant form of occipital encephalocele with incomplete penetrance that was reported in a Vietnamese family [29]. Most of the affected individuals in this family were developmentally normal and had normal neurologic exams except for skin-covered occipital bulges. Therefore there was no evidence for any of the known genetic syndromes associated with encephaloceles in this family. Encephaloceles may be part of specific genetic syndromes if there are associated anomalies. The inheritance pattern for these syndromes is usually autosomal recessive, in which case the risk of recurrence in subsequent pregnancies is substantial. As an example, the risk of recurrence for an encephalocele with Meckel Gruber syndrome is 25 percent. (See 'Associated anomalies' below.) Clinical features The clinical features of encephalocele are variable depending upon the type (location) and severity: Sincipital encephaloceles may be occult lesions that are not noticeable or may present with marked craniofacial deformities (hypertelorism, telecanthus, orbital dystopia, or unilateral micro/anophthalmos).

Basal encephaloceles may or may not be apparent on external inspection; they may present as a nasal or epipharyngeal mass, difficulty breathing, recurrent upper tract infections, nasal discharges, recurrent meningitis, or CSF leaks [28].

An occipital encephalocele usually is obvious at the time of birth and many are diagnosed prenatally by ultrasonography. Those of relatively large size may be associated with cranial nerve deficits, poor sucking and feeding, spasticity, blindness, seizures, or developmental delay. Occipital encephalocele also may be associated with hind-brain anomaly (Chiari III malformation) in which herniating occipital/cerebellar tissues distort the posterior fossa structures. (See "Chiari malformations".)

The herniated tissue of an encephalocele may consist of normal brain or fibrous atrophic gliotic tissue which has little or no function. In a nasofrontal encephalocele, most of the herniating mass consists of nonfunctional gliotic neural tissue [30,31]. On the other hand,

occipital encephaloceles may include a variety of tissues. In a series of occipital encephaloceles, 32 percent contained cerebral tissue, 21 percent included cerebral and cerebellar tissue, 5 percent had cerebellar tissue, and 37 percent had glial nodules or dysplastic neural tissue [32]. Associated anomalies Infants with encephalocele frequently have other malformations that may be part of recognized syndromes [27,33,34]. In a series from Atlanta, at least one other major structural congenital defect was present in 17 of 83 (20 percent) of affected liveborn infants with encephalocele [27]. This is a smaller proportion than in other series, due to exclusion of infants with chromosomal abnormalities, other major CNS lesions, and amniotic bands. The most common of the associated syndromes is Meckel Gruber syndrome (Meckel syndrome, MIM #249000), which includes occipital encephalocele, microcephaly, microphthalmia, polycystic kidneys, ambiguous genitalia, polydactyly, cleft lip and palate, and other malformations [7]. (See "Renal cystic diseases in children", section on 'Renal cysts in malformative syndromes' and "Clinical manifestations, diagnosis, and treatment of nephronophthisis", section on 'Meckel-Gruber syndrome'.) Other cerebral malformations are often associated with encephalocele. These include deformities of the tentorium, complete or partial agenesis of the corpus callosum, and myelomeningocele. Individuals with occipital encephaloceles frequently have hydrocephalus (30 to 50 percent), corpus callosal abnormalities (18 percent), and cerebral dysgenesis (13 percent) [7,35]. Diagnosis The diagnosis is apparent at birth in most of the occipital encephaloceles. Basal encephaloceles may present as a midline mass in the nose or may not be visible. An encephalocele may be mistaken for a nasal polyp if it is located within the nose or for a soft tissue tumor if it is covered with skin and anterior to the nose. These basal encephaloceles, either ethmoidal or sphenoidal, tend to present with meningitis. Neuroimaging should be performed to evaluate the intracranial components of the malformation and identify any associated brain or vascular anomalies. CT scans are effective for detection of the extent of cranial defects. MR scans are effective for detection of the extent of neural herniation. It is especially useful for basal encephaloceles. Neuroimaging will also detect hydrocephalus, if present. Prenatal diagnosis Prenatal diagnosis is accomplished by maternal screening of serum AFP levels and ultrasonography. With the latter, encephaloceles appear as a defect in the calvarium containing a cystic or solid mass with a gyral pattern that is contiguous with the brain [36].

Prenatal ultrasonography detects approximately 80 percent of encephaloceles. Fetal magnetic resonance imaging (MRI) has higher sensitivity for NTDs, and can be used in cases where ultrasound results are not optimal or the diagnosis is uncertain, or to evaluate high-risk cases. (See "Prenatal screening and diagnosis of neural tube defects", section on 'Prenatal diagnosis'.) Management When diagnosed prenatally, vaginal delivery may be safe if the lesion is relatively small. Large encephaloceles require cesarean section. Surgical treatment is appropriate in most cases unless the encephalocele is massive and there is severe microcephaly or other lethal anomalies. The procedure basically consists of removing the overlying sac and closing the defect including the dural defect [37]. In patients with basal encephaloceles or CSF leakage, prompt closure is important to reduce the risk of infection. Patients with hydrocephalus usually undergo ventriculo-peritoneal shunt placement prior to encephalocele repair to prevent postoperative CSF leaks. Sincipital encephaloceles Unless there is CSF leakage, sincipital encephaloceles can be treated electively, ideally early in infancy to avoid deleterious effect of an enlarging encephalocele on craniofacial structures. Complete surgical repair includes [28]: Resection of the herniated mass to be flush with the floor of the anterior cranial base Repair of the dural and cranium defect Correction of hypertelorism, when appropriate, with: Reconstruction of the nasal elements Alignment of the horizontal ocular axis Cannulation of obstructed nasolacrimal ducts

Basal encephaloceles Basal encephaloceles require prompt surgical repair because of high prevalence of meningitis. Ideally, a craniofacial team usually consisting of neurosurgeons and plastic surgeons perform the repair. Reconstruction of the skull and dural defect is important to prevent meningitis. In the case of sphenoidal encephalocele, particular caution must be used during the repair because the third ventricle, hypothalamus, and optic pathway may be present in the encephalocele sac. Occipital encephaloceles Surgical management of patients with occipital encephalocele depends on the type of neural tissue that is protruding beyond the skull, as assessed by inspection during surgery. If the herniating mass consists of gliotic tissue, the mass is transected flush with the skull.

If the mass contains normal brain, attempts should be made to preserve it. Several techniques have been described:

Expansion cranioplasties have been used to accommodate large amounts of herniated neural tissues [38]. One technique of expansion cranioplasty uses tantalum mesh to create an extracranial space for herniating tissues.

Ventricular volume reduction is a two-stage technique in which the ventricles are artificially expanded, followed by intracranial transposition of the neural tissue. In the first stage, the dural sac is closed; this increases ventricular pressure to produce ventriculomegaly. After hydrocephalus develops, a ventriculoperitoneal shunt is placed, then herniated brain is transpositioned into the new intracranial space as the ventricle contracts [39].

To preserve herniated occipital and cerebellar parenchyma, the tentorium is incised, creating infratentorial space, and the cerebral cortex retracted into this space [40].

Outcome For sincipital encephaloceles, craniofacial operations can usually be performed without intraoperative mortality or major complications. Most patients with nasofrontal encephaloceles have normal or near-normal intelligence and ultimately do well following the repair [28]. The prognosis for patients with occipital encephalocele depends on the extent of herniated neural tissue in the sac and on the presence of associated anomalies. In one series, 17 percent of all patients with occipital encephaloceles had normal mental and physical development, and 83 percent were mentally and/or physically impaired [41]. The subset with few anomalies and a small amount of neural herniation had a 53 percent chance of being physically and mentally normal, 28 percent chance of normal intelligence but physical impairment, and 19 percent chance of intellectual disability (mental retardation). In a separate series of 30 patients with occipital encephalocele, the mortality rate was 29 percent [42]. Factors related to prognosis include the size of the sac, the contents of the neural tissue, hydrocephalus, infection, and pathologies that accompany the condition. One series from a single center suggests that hydrocephalus and other intracranial abnormalities predict neurodevelopmental outcome, but the location (type) of the cephalocele does not [35]. In a retrospective analysis of 85 cases of cephaloceles (68 encephaloceles and 17 meningoceles) 40 were frontal, 33 occipital, and 12 parietal. The most common associated intracranial abnormalities included hydrocephalus (27 percent), seizure disorder (20 percent), corpus callosal abnormalities (18 percent), and cerebral dysgenesis (13 percent). Cognitive development was normal in 48 percent of patients, and mildly, moderately or severely delayed in 11, 16, and 25 percent of patients, respectively.

On multivariate analysis, only hydrocephalus and the presence of intracranial abnormalities were significant predictors of developmental delay. Seizure disorders are present in about 20 percent of patients with congenital encephalocele [35]. Rates may vary if patients with occult lesions are included; such patients may present with seizures, and small occult encephaloceles are discovered as a secondary finding [43]. In a literature review of 18 cases of encephaloceles with seizure, six (33 percent) were extra-temporal and 12 (67 percent) were temporal [44]. For the purpose of seizure control, all extra-temporal encephaloceles were managed with resection of the encephalocele. Among patients with temporal lobe encephaloceles, eight (67 percent) were treated with encephalocele resection and extended lobectomy, and four (33 percent) were treated only with resection of the encephalocele. The prognosis after surgery was generally good, and 17 patients were seizure-free postoperatively. SUMMARY AND RECOMMENDATIONS Anencephaly

Anencephaly is a severe defect of development of the neuraxis, in which the developing forebrain and variable amounts of the brainstem are exposed in utero and destroyed or fail to develop (picture 1). Neonates with anencephaly typically have brainstem function, but are permanently unconscious; none survive longer than two weeks. (See 'Neurologic function' above.)

Prenatal diagnosis of anencephaly is accomplished by maternal screening of serum alpha-fetoprotein (AFP) levels and ultrasonography. Prenatal detection usually is followed by termination of the pregnancy. (See 'Prenatal diagnosis' above.)

Risk factors for NTDs include dietary deficiency of folic acid, administration of folic acid antagonists such as trimethoprim, and several types of antiepileptic drugs, and genetic polymorphisms in genes encoding folate-dependent enzymes. Folic acid supplementation given from before the time of conception reduces the incidence of NTDs, and is recommended for all women who are pregnant or who may become pregnant. (See 'Prevention' above.)

Encephalocele

An encephalocele is a type of malformation in which there are calvarial and dural defects with extracranial herniation of leptomeninges and sometimes brain and cerebrospinal fluid (CSF). In populations where prenatal ultrasonography is routinely performed, about 80 percent of encephaloceles are detected prenatally. (See 'Encephalocele' above and 'Prenatal diagnosis' above.)

Isolated encephaloceles (ie, those that are not associated with other congenital anomalies) generally are not familial. Those with associated anomalies may be part of specific genetic syndromes such as Meckel Gruber syndrome, in which case the recurrence risk may be substantial. (See 'Inheritance' above and 'Associated anomalies' above.)

Primary encephaloceles are divided into sincipital, basal, and occipital types; the management and the prognosis varies among these types. (See 'Classification' above.)

Sincipital encephaloceles range from occult lesions that are not noticeable to those with marked craniofacial deformities (hypertelorism, telecanthus, orbital dystopia, or unilateral micro/anophthalmos). Unless there is CSF leakage, sincipital encephaloceles can be treated electively, ideally early in infancy. (See 'Sincipital encephaloceles' above.)

Basal encephaloceles may be trans-sphenoidal, spheno-ethmoidal, transethmoidal, and spheno-orbital (picture 2) and may or may not be apparent on external inspection. They may present as a nasal or epipharyngeal mass, difficulty breathing, recurrent upper tract infections, nasal discharges, recurrent meningitis, or CSF leaks. They require prompt surgical repair because of high prevalence of meningitis. (See 'Basal encephaloceles' above.)

Occipital encephaloceles usually are obvious at the time of birth and many are diagnosed prenatally by ultrasonography (picture 3A). Those of relatively large size may be associated with cranial nerve deficits, poor sucking and feeding, spasticity, blindness, seizures, or developmental delay. Surgical management of patients with occipital encephaloceles depends on the type of neural tissue that is protruding beyond the skull. (See 'Occipital encephaloceles' above.)

ACKNOWLEDGMENT The editorial staff at UpToDate, Inc. would like to acknowledge Dr. Marvin Fishman and Dr. Grace Villarreal, who contributed to an earlier version of this topic review. Use of UpToDate is subject to the Subscription and License Agreement. REFERENCES 1. Sadler TW. Langman's Medical Embryology, Lippincott Williams & Wilkins, Philadelphia 1990. p.352. 2. Lemire RJ, Beckwith JB, Warkuny J. Anencephaly, Raven Press, New York 1978.

3. Stone DH. The declining prevalence of anencephalus and spina bifida: its nature, causes
and implications. Dev Med Child Neurol 1987; 29:541.

4. O'Rahilly M, Muller F. Human Embryology & Teratology, Wiley-Liss, Inc, New York 1992. p.253.

5. Mathews TJ, Honein MA, Erickson JD. Spina bifida and anencephaly prevalence--United
States, 1991-2001. MMWR Recomm Rep 2002; 51:9.

6. Boulet SL, Yang Q, Mai C, et al. Trends in the postfortification prevalence of spina bifida

and anencephaly in the United States. Birth Defects Res A Clin Mol Teratol 2008; 82:527.

7. Volpe JJ. Intracranial hemorrhage: Neural tube formation and prosencephalic development. In: Neurology of the Newborn, 4th, WB Saunders, Philadelphia 2001. p.3.

8. Frey L, Hauser WA. Epidemiology of neural tube defects. Epilepsia 2003; 44 Suppl 3:4. 9. Li Z, Ren A, Zhang L, et al. Extremely high prevalence of neural tube defects in a 4county area in Shanxi Province, China. Birth Defects Res A Clin Mol Teratol 2006; 76:237.

10. Cowchock S, Ainbender E, Prescott G, et al. The recurrence risk for neural tube defects in
the United States: a collaborative study. Am J Med Genet 1980; 5:309.

11. Toriello HV, Higgins JV. Occurrence of neural tube defects among first-, second-, and
third-degree relatives of probands: results of a United States study. Am J Med Genet 1983; 15:601.

12. Seller MJ. Recurrence risks for neural tube defects in a genetic counseling clinic
population. J Med Genet 1981; 18:245.

13. Czeizel A, Mtneki J. Recurrence risk after neural tube defects in a genetic counselling
clinic. J Med Genet 1984; 21:413.

14. Koch M, Fuhrmann W. Sibs of probands with neural tube defects--a study in the Federal
Republic of Germany. Hum Genet 1985; 70:74. 15. Nussbaum R, McInnes RR, Willard HF. Genetics of disorders with complex inheritance. In: Thompson & Thompson Genetics in Medicine, 6, WB Saunders, Philadelphia 2001. p.289.

16. MacCarthy PA, Dalrymple IJ, Duignan NM, et al. Recurrence rates of neural tube defects
in Dublin maternity hospitals. Ir Med J 1983; 76:78.

17. Mazzitelli N, Vauthay L, Grandi C, et al. Reviewing old concepts at the start of a new
millenium: growth restriction, adrenal hypoplasia, and thymomegaly in human anencephaly. Teratology 2002; 66:105.

18. Sadovnick AD, Baird PA. Congenital malformations associated with anencephaly in
liveborn and stillborn infants. Teratology 1985; 32:355.

19. Mathew A. Anencephaly-associated aganglionosis. Am J Med Genet 1998; 80:518. 20. Peabody JL, Emery JR, Ashwal S. Experience with anencephalic infants as prospective
organ donors. N Engl J Med 1989; 321:344.

21. Czeizel AE, Duds I. Prevention of the first occurrence of neural-tube defects by
periconceptional vitamin supplementation. N Engl J Med 1992; 327:1832.

22. Hoving EW, Vermeij-Keers C. Frontoethmoidal encephaloceles, a study of their

pathogenesis. Pediatr Neurosurg 1997; 27:246. review. Neurosurgery 2011; 68:E263.

23. Albert L Jr, DeMattia JA. Cocaine-induced encephalocele: case report and literature 24. 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.

25. 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.

26. Ng JD, Payner TD, Holck DE, et al. Orbital trauma caused by bicycle hand brakes. Ophthal
Plast Reconstr Surg 2004; 20:60.

27. Siffel C, Wong LY, Olney RS, Correa A. Survival of infants diagnosed with encephalocele in
Atlanta, 1979-98. Paediatr Perinat Epidemiol 2003; 17:40. 28. 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.

29. Bassuk AG, McLone D, Bowman R, Kessler JA. Autosomal dominant occipital cephalocele.
Neurology 2004; 62:1888.

30. Richards CG. Frontoethmoidal meningoencephalocele: a common and severe congenital

abnormality in South East Asia. Arch Dis Child 1992; 67:717.

31. David DJ. Cephaloceles: classification, pathology, and management--a review. J Craniofac
Surg 1993; 4:192.

32. Simpson DA, David DJ, White J. Cephaloceles: treatment, outcome, and antenatal
diagnosis. Neurosurgery 1984; 15:14.

33. Cohen MM Jr, Lemire RJ. Syndromes with cephaloceles. Teratology 1982; 25:161. 34. Brown MS, Sheridan-Pereira M. Outlook for the child with a cephalocele. Pediatrics 1992;
90:914.

35. Lo BW, Kulkarni AV, Rutka JT, et al. Clinical predictors of developmental outcome in
patients with cephaloceles. J Neurosurg Pediatr 2008; 2:254.

36. 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. 37. Humphreys RP. Encephalocele and dermal sinuses. In: Pediatric Neurosurgery, 3rd, Cheek WR (Ed), WB Saunders, Philadelphia 1994.

38. Gallo AE Jr. Repair of giant occipital encephaloceles with microcephaly secondary to
massive brain herniation. Childs Nerv Syst 1992; 8:229.

39. 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. large occipital encephalocele without parenchymal excision. Childs Nerv Syst 2005; 21:144.

40. Bozinov O, Tirakotai W, Sure U, Bertalanffy H. Surgical closure and reconstruction of a

41. French BN. Midline fusion defects and defects of formation. In: Neurological Surgery, Youmans JR (Ed), WB Saunders, Philadelphia 1990. p.1164.

42. Kiymaz N, Yilmaz N, Demir I, Keskin S. Prognostic factors in patients with occipital
encephalocele. Pediatr Neurosurg 2010; 46:6.

43. 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.

44. 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.

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TOPIC OUTLINE

INTRODUCTION EMBRYOLOGY OF THE NEURAL TUBE ANENCEPHALY Incidence Inheritance Prenatal diagnosis Clinical features Associated malformations Neurologic function Management Prevention ENCEPHALOCELE Classification Incidence Inheritance Clinical features Associated anomalies Diagnosis - Prenatal diagnosis Management - Sincipital encephaloceles - Basal encephaloceles - Occipital encephaloceles Outcome SUMMARY AND RECOMMENDATIONS Anencephaly Encephalocele ACKNOWLEDGMENT REFERENCES
GRAPHICS

FIGURES Cephalocaudad neurulation PICTURES Anencephaly Nasal encephalocele Occipital encephalocele MRI Chiari III malformation
RELATED TOPICS

Chiari malformations Clinical manifestations, diagnosis, and treatment of nephronophthisis Folic acid for prevention of neural tube defects Overview of the management of myelomeningocele (spina bifida) Pathogenesis and types of occult spinal dysraphism Pathophysiology and clinical manifestations of myelomeningocele (spina bifida)

Pregnancy risks in women with type 1 and type 2 diabetes mellitus Prenatal screening and diagnosis of neural tube defects Renal cystic diseases in children Ultrasound diagnosis of neural tube defects
Anencephaly and encephaloceleUltrasound diagnosis of neural tube defectsSearch on "anencephaly"Prenatal screening and diagnosis of neural tube defects

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