Management of Atretic Cephalocele in a 5-Year-Old Boy
This child requires comprehensive neuroimaging with MRI (including magnetic resonance venography) to identify associated brain malformations, followed by neurosurgical excision of the lesion regardless of imaging findings, as the prognosis depends entirely on occult cerebral anomalies rather than the cephalocele itself. 1, 2
Immediate Diagnostic Workup
Essential Neuroimaging Protocol
MRI with magnetic resonance venography is mandatory to detect the characteristic venous drainage pattern where the straight sinus is atretic or absent and deep cerebral veins drain through an embryonic primitive prosencephalic (falcine) vein 1
Look specifically for these imaging findings that distinguish atretic cephalocele from benign cutis aplasia congenita:
- Underlying small bony defect in the parietal or occipital bone 1
- Bifid superior sagittal sinus 1, 3
- Vertical embryonic positioning of the straight sinus with prominent superior cerebellar cistern 3
- "Spinning-top" configuration of the tentorial incisura 3
- "Cigar-shaped" CSF tract within the interhemispheric fissure 3
- Fenestration of the superior sagittal sinus 3
CT venography should be added to identify sinus pericranii, which occurs in 50% of cases (63% for parietal location, 33% for occipital location) and is critical for surgical planning 4
Critical Associated Anomalies to Identify
The neurosurgeon must search exhaustively for associated brain malformations, as 75% of patients have concurrent cerebral anomalies that determine prognosis, not the cephalocele itself 2:
- Corpus callosum abnormalities (agenesis or dysgenesis) 5, 6
- Holoprosencephaly 6
- Dandy-Walker malformation 6
- Grey matter heterotopia 6
- Extra-axial cysts 5, 6
- Cerebellar anomalies 5
Surgical Management
Indications for Surgery
Proceed with neurosurgical excision in all cases, even with normal imaging, because:
- The lesion contains a fibrous tract that can serve as a portal for bacterial meningitis or intracranial infection 1
- Associated dermoid or epidermoid cysts may be present within the tract 1
- Progressive enlargement of intracranial components can cause focal brain compression 1
Surgical Approach
- Complete excision of the dysplastic skin, underlying fibrous tract, and any associated dermoid/epidermoid elements is required 1, 2
- Anticipate venous anomalies during surgery: sinus pericranii associated with atretic cephalocele typically contributes only a small portion of venous outflow, allowing safe repair without excessive bleeding 4
- Pathologic examination will reveal glial, meningeal (arachnoid), fibrous, and dermal elements 3
Prognostic Counseling
Location-Based Prognosis
Parietal location carries significantly better prognosis than occipital location 2:
- Parietal atretic cephaloceles: Most children develop normally (6 of 7 in one series) 2
- Occipital atretic cephaloceles: Worst prognosis with only 2 of 9 children developing normally 2
Prognosis Determinants
The prognosis depends entirely on associated occult brain anomalies, not on the cephalocele itself 2:
- Children with isolated atretic cephalocele and normal brain imaging typically develop normally 3
- Presence of multiple cerebral anomalies (holoprosencephaly, Dandy-Walker, corpus callosum agenesis) indicates poor neurodevelopmental prognosis 5, 6
- The atretic cephalocele may be "the tip of the iceberg" signaling severe underlying cerebral malformation complexes 2
Common Pitfalls to Avoid
- Do not mistake this for benign cutis aplasia congenita: While both present as midline dysplastic skin with a "horse collar" of abnormal hair, cutis aplasia has no intracranial tract, no brain malformations, and no venous anomalies 1
- Do not rely on normal external appearance: The small, innocuous-appearing skin lesion belies potentially severe intracranial pathology in 75% of cases 2
- Do not skip venography: Failure to identify sinus pericranii preoperatively can complicate surgical planning 4