Cephalocele
Updates to Article Attributes
CephalocoeleCephalocele refers to the outward herniation of CNS contents through a defect in the cranium. The vast majority are midline.
Epidemiology
The estimated incidence is 0.8-4:10,000 live births 13 with a well recognised geographical variation between sub-types. These may be a greater female predilection 11.
Clinical presentation
- content pending
Pathology
It is thought to arise due to failure of closure of the rostral end of the neuropore resulting from either overgrowth of neural tissue in the line of closure or a failure of induction by adjacent mesodermal tissues which in turn interfere with normal closure of the skull.
Subtypes
There are two main subtypes:
- encephalocele: herniation of meninges and CSF and brain parenchyma
-
cranial
meningocoelemeningocele: herniation of meninges and CSF only
Classification
Cephalocoeles can also be subclassified into 5 subtypes 15:
- meningocele: contains CSF and lined by meninges
- gliocele: contains CSF and lined by glial tissue
- meningoencephalocele: contains CSF and brain
- meningoencephalocystocele: CSF, brain and ventricles
- atretic cephalocele: small nodule of fibrous-fatty tissue
Location
-
occipital
cephalocoelecephalocele: most common, up to 75% -
parietal
cephalocoelecephalocele: up to 37% 12 -
frontal
cephalocoelecephalocele/fronto-ethmoidalcephalocoelecephalocele: ~10%, this type is most common in Asia -
petrous apex
cephalocoelecephalocele 5: rare -
intra sphenoidal
cephalocoelecephalocele10: rare
Associations
Additional congenital anomalies may be present in up to 50 % of cases. They include
- aneuploidic
- non-aneuploidic syndromic
- non-syndromic CNS anomalies
-
non-syndromic non-CNS anomalies
- cleft lip and palate
- congenital cardiovascular anomalies
- hypertelorism
- amniotic band syndrome 6: if there is an unlucky slash defect around the occipital region
Markers
- maternal serum alpha-fetoprotein (MSAFP) may be elevated
Radiographic features
Ultrasound
Sonographically, these lesions may appear as:
- a cyst protruding from the fetal calvarium representing a meningocele or cyst within cyst appearance
- a solid mass protruding from the calvarium representing a herniated brain:
encephalocoeleencephalocele - either or both of the above associated with a defect in the calvarium
Treatment and prognosis
The overall prognosis is variable dependent on severity and other associations (presence of hydrocephalus, microcephaly, etc). If a large cephalocoelecephalocele is noted in an antenatal ultrasound scan it generally implicates a poor prognosis.
-<p><strong>Cephalocoele</strong> refers to the outward herniation of CNS contents through a defect in the cranium. The vast majority are midline.</p><h4>Epidemiology</h4><p>The estimated incidence is 0.8-4:10,000 live births <sup>13</sup> with a well recognised geographical variation between sub-types. These may be a greater female predilection <sup>11</sup>.</p><h4>Clinical presentation</h4><ul><li><em>content pending</em></li></ul><h4>Pathology</h4><p>It is thought to arise due to failure of closure of the rostral end of the neuropore resulting from either overgrowth of neural tissue in the line of closure or a failure of induction by adjacent mesodermal tissues which in turn interfere with normal closure of the skull.</p><h5>Subtypes</h5><p>There are two main subtypes:</p><ul>- +<p><strong>Cephalocele</strong> refers to the outward herniation of CNS contents through a defect in the cranium. The vast majority are midline.</p><h4>Epidemiology</h4><p>The estimated incidence is 0.8-4:10,000 live births <sup>13</sup> with a well recognised geographical variation between sub-types. These may be a greater female predilection <sup>11</sup>.</p><h4>Clinical presentation</h4><ul><li><em>content pending</em></li></ul><h4>Pathology</h4><p>It is thought to arise due to failure of closure of the rostral end of the neuropore resulting from either overgrowth of neural tissue in the line of closure or a failure of induction by adjacent mesodermal tissues which in turn interfere with normal closure of the skull.</p><h5>Subtypes</h5><p>There are two main subtypes:</p><ul>
-<a href="/articles/encephalocoele">encephalocoele</a>: herniation of meninges and CSF and brain parenchyma</li>- +<a title="Encephalocele" href="/articles/encephalocele-1">encephalocele</a>: herniation of meninges and CSF and brain parenchyma</li>
-<a href="/articles/cranial-meningocoele">cranial meningocoele</a>: herniation of meninges and CSF only</li>- +<a href="/articles/cranial-meningocoele">cranial meningocele</a>: herniation of meninges and CSF only</li>
-<a href="/articles/occipital-cephalocoele">occipital cephalocoele</a>: most common, up to 75%</li>- +<a href="/articles/occipital-cephalocoele">occipital cephalocele</a>: most common, up to 75%</li>
-<a href="/articles/parietal-cephalocoele">parietal cephalocoele</a>: up to 37% <sup>12 </sup>- +<a href="/articles/parietal-cephalocoele">parietal cephalocele</a>: up to 37% <sup>12 </sup>
-<a href="/articles/frontal-cephalocoele">frontal cephalocoele</a>/<a href="/articles/fronto-ethmoidal-cephalocoele">fronto-ethmoidal cephalocoele</a>: ~10%, this type is most common in Asia</li>- +<a href="/articles/frontal-cephalocoele">frontal cephalocele</a>/<a href="/articles/fronto-ethmoidal-cephalocoele">fronto-ethmoidal cephalocele</a>: ~10%, this type is most common in Asia</li>
-<a href="/articles/petrous-apex-cephalocoele">petrous apex cephalocoele</a> <sup>5</sup>: rare</li>- +<a href="/articles/petrous-apex-cephalocoele">petrous apex cephalocele</a> <sup>5</sup>: rare</li>
-<a href="/articles/intra-sphenoidal-cephalocoele">intra sphenoidal cephalocoele</a><sup>10</sup>: rare </li>- +<a href="/articles/intra-sphenoidal-cephalocoele">intra sphenoidal cephalocele</a> <sup>10</sup>: rare </li>
-<li>a solid mass protruding from the calvarium representing a herniated brain: encephalocoele </li>- +<li>a solid mass protruding from the calvarium representing a herniated brain: encephalocele </li>
-</ul><h4>Treatment and prognosis</h4><p>The overall prognosis is variable dependent on severity and other associations (presence of hydrocephalus, microcephaly, etc). If a large cephalocoele is noted in an antenatal ultrasound scan it generally implicates a poor prognosis.</p>- +</ul><h4>Treatment and prognosis</h4><p>The overall prognosis is variable dependent on severity and other associations (presence of hydrocephalus, microcephaly, etc). If a large cephalocele is noted in an antenatal ultrasound scan it generally implicates a poor prognosis.</p>