Encephalocele

Encephalocele
Major points
• Cystic structure on the midline face
• Presents in the neonatal period with nasal
broadening (67%) or as a soft, blue pulsatile mass
that transilluminates on the nasal bridge
• Increases in size with crying, Valsalva maneuver, or
external compression of the jugular veins
• Associated with facial clefting and other midline
defects
Pathogenesis
• Herniation of brain tissue through the skull with
connection to the underlying brain
Diagnosis
• Image with MRI
• Biopsy of the skin lesion not recommended,
owing to the connection with the subarachnoid
space which could lead to CSF rhinorrhea and
infection
• Histology: similar to nasal glioma
Differential diagnosis
• Hemangioma
• Nasal glioma
• Dermoid cyst
• Hypertelorism
Treatment
• Evaluation with MRI or CT scan is essential
• Surgical excision is recommended by a skilled
pediatric neurosurgeon and otolaryngologist
Prognosis
• Lesions persist if not surgically corrected and may
become infected
References
Brown MS, Sheridan-Pereira M. Outlook for the child with
a cephalocele. Pediatrics 1992; 90: 914–19
Davis DA, Cohen PR, George RE. Cutaneous stigmata of
occult spinal dysraphism. J Am Acad Dermatol 1994; 31:
892–6
El Shabrawi-Caelen L, White WL, Soyer HP, et al.
Rudimentary meningocele: remnant of a neural tube defect?
Arch Dermatol 2001; 137: 45–50
Hoving EW. Nasal encephaloceles. Childs Nerv Syst 2000;
16: 702–6
Hunt JA, Hobar PC. Common craniofacial anomalies: facial
clefts and encephaloceles. Plast Reconstruct Surg 2003; 112:
606–15
Paller AS, Pensler JM, Tomita T. Nasal midline masses in
infants and children. Arch Dermatol 1991; 127: 362–6