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Encephalocele
Other Resources UpToDate PubMed

Encephalocele

Contributors: Yoon-Soo Cindy Bae-Harboe MD, Noah Craft MD, PhD, Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH
Other Resources UpToDate PubMed

Synopsis

Cephalocele is a malformation caused by intracranial structures herniating through an opening in the skull. Encephaloceles specifically contain both meninges and brain, while meningoceles contain meninges and cerebrospinal fluid (CSF).

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

Codes

ICD10CM:
Q01.9 – Encephalocele, unspecified

SNOMEDCT:
55999004 – Encephalocele

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

The following should all be imaged, as it is difficult to clinically differentiate between these conditions: encephaloceles, meningoceles, atretic cephaloceles, and heterotopic brain tissue.

Best Tests

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Management Pearls

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Therapy

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References

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Last Updated:10/30/2022
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Encephalocele
A medical illustration showing key findings of Encephalocele : Hair collar sign, Occipital scalp, Vertex scalp, Smooth compressible nodule
Clinical image of Encephalocele - imageId=5991371. Click to open in gallery.  caption: 'A hair collar sign (thicker terminal hair growth) around a patulous plaque on the scalp.'
A hair collar sign (thicker terminal hair growth) around a patulous plaque on the scalp.
Copyright © 2022 VisualDx®. All rights reserved.