Encephalocele in Infant/Neonate
When the neural tube does not close properly during development, this can result in an encephalocele.
Cephaloceles are quite rare but can occur more frequently in patients with a family history of cephaloceles.
Encephaloceles frequently occur as soft nodules or masses that grow as the infant grows and grow acutely with crying or during a Valsalva maneuver. The most common locations for encephaloceles are the occiput and the vertex located near the midline of the skull. However, encephaloceles have been reported near the nasal glabella and near the pharyngeal region.
Encephaloceles commonly lead to early deformities and can be mistaken for deeply seated hemangiomas or vascular malformations. The deformity can lead to the misperception of hypertelorism as well.
Repetitive cephaloceles in families may be attributed to specific genes responsible for controlling individual closure sites. Patients may report a history of meningitis.
Related topic: Atretic encephalocele
Q01.9 – Encephalocele, unspecified
55999004 – Encephalocele
- Hematomas (subdural, cephalohematoma)
- Aplasia cutis
- Inclusion cysts / epidermoid cyst
- Lymphatic malformation (eg, lymphangioma circumscriptum) – "Frog spawn" appearance, typically presents on the extremities and trunk.
- Nasolacrimal duct cyst
- Pilomatricoma is firm, white, or blue in color.
- Ethmoid mucocele
- Neurofibroma – "Buttonhole" sign; when compressed the lesion invaginates.
- Nasal gliomas are firm and usually do not transilluminate.
- Nasal dermoid cyst – Hairs or keratinous debris can be seen at the opening.
- Heterotopic brain tissue does not have a skull defect.
- Rudimentary meningocele
- Facial clefts and other midline defects are associated with nasal cephaloceles. Patients with encephaloceles can also have other neurologic abnormalities.