Cephalocele
Updates to Article Attributes
Cephalocoele 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. Thee 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:
- encephalocoele: herniation of meninges and CSF and brain parenchyma
- cranial meningocoele: 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 cephalocoele: most common, up to 75%
- parietal cephalocoele: up to 37% 12
- frontal cephalocoele/fronto-ethmoidal cephalocoele: ~10%, this type is most common in Asia
- petrous apex cephalocoele 5: rare
- intra sphenoidal cephalocoele10: 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: encephalocoele
- 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 cephalocoele is noted in an antenatal ultrasound scan it generally implicates a poor prognosis.
-<a href="/articles/meningocoele">meningocele</a>: contains CSF and lined by meninges</li>- +<a href="/articles/congenital-spinal-meningocoele">meningocele</a>: contains CSF and lined by meninges</li>
-<strong>aneuploidic:</strong><ul>- +<strong>aneuploidic</strong><ul>
-<strong>non-aneuploidic syndromic:</strong><ul>- +<strong>non-aneuploidic syndromic</strong><ul>
-<li><a href="/articles/walker-warburg-syndrome">Walker-Warburg syndrome</a></li>- +<li><a href="/articles/walker-warburg-syndrome-1">Walker-Warburg syndrome</a></li>
-<strong>non-syndromic CNS anomalies:</strong><ul>- +<strong>non-syndromic CNS anomalies</strong><ul>
-<li><a href="/articles/dandy-walker-continuum">Dandy-Walker continuum</a></li>- +<li><a href="/articles/dandy-walker-malformation-1">Dandy-Walker continuum</a></li>
-<strong>non-syndromic non-CNS anomalies:</strong><ul>- +<strong>non-syndromic non-CNS anomalies</strong><ul>
-</ul><h5>Markers:</h5><ul><li>maternal serum alpha fetoprotein (MSAFP) may be elevated</li></ul><h4>Radiographic features</h4><h5>Ultrasound</h5><p>Sonographically, these lesions may appear as:</p><ul>- +</ul><h5>Markers</h5><ul><li>maternal serum alpha fetoprotein (MSAFP) may be elevated</li></ul><h4>Radiographic features</h4><h5>Ultrasound</h5><p>Sonographically, these lesions may appear as:</p><ul>