How do I know if I have Encephalocele?

An encephalocele is a rare neural tube defect characterized by a sac-like protrusion of the brain and its membranes through an opening in the skull. In most cases, an encephalocele is identified at birth or via prenatal ultrasound, but small, "occult" (hidden) forms may occasionally go undiagnosed until later in life when they cause neurological symptoms.

What are the early signs of an encephalocele?

While an encephalocele is typically diagnosed in infancy, some individuals with smaller, hidden defects may experience symptoms later. These signs can include chronic headaches, seizures, nasal obstruction, or recurrent meningitis. Because an encephalocele involves the physical structure of the skull and brain tissue, symptoms often arise from pressure or structural abnormalities rather than systemic illness.

How is an encephalocele diagnosed?

Diagnosis requires high-resolution imaging to visualize the skull base or vault. If you suspect an encephalocele, you should request a consultation with a neurosurgeon or a neurologist. The following tests are standard for evaluating potential structural brain defects:

• MRI (Magnetic Resonance Imaging): The gold standard for visualizing soft tissue and identifying the contents of the sac.


• CT Scan: Used to evaluate the specific bony defects in the cranium.


• MR Angiography: Sometimes used to assess the relationship between the encephalocele and major blood vessels.

When should I seek urgent medical attention?

Red flags that require immediate evaluation by an emergency department include sudden, severe headaches, unexplained clear fluid drainage from the nose or ears, vision changes, or signs of meningitis such as a stiff neck and high fever. If you have a known or suspected encephalocele, these symptoms could indicate a potential cerebrospinal fluid (CSF) leak or infection.

How do I advocate for my health?

If your concerns are dismissed, remember that you are the expert on your own body. If you believe you have an encephalocele, request a referral to a tertiary care center specializing in skull base surgery. Mentioning the specific anatomical concerns can help your primary care physician understand the necessity of specialized imaging.

Next steps

• Consult a neurosurgeon or a neurologist to discuss your symptoms and request appropriate imaging.


• Join the DiseaseMaps.org community to connect with 27 other members who have navigated life with an encephalocele.


• Keep a detailed log of your symptoms to share during your clinical consultation.

Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Encephalocele


• Orphanet: Neural tube defects


• OMIM (Online Mendelian Inheritance in Man): Encephalocele entry