Which are the symptoms of Encephalocele?

An encephalocele is a rare neural tube defect characterized by a sac-like protrusion of the brain and its protective membranes through an opening in the skull. Symptoms vary significantly depending on the location and size of the defect but commonly include visible physical abnormalities, developmental delays, and neurological impairments.

What are the primary symptoms of an encephalocele?

The clinical presentation of encephalocele is highly dependent on the site of the lesion. Occipital encephaloceles (at the back of the head) are most common in Western populations, while frontal encephaloceles occur more frequently in Southeast Asia. Common symptoms include:

• A visible lump or soft sac on the scalp.


• Hydrocephalus (fluid buildup in the brain causing increased intracranial pressure).


• Spasticity or paralysis of the limbs.


• Seizures or epilepsy.


• Vision, hearing, or speech impairments.


• Developmental delays or intellectual disabilities.

How does the severity of an encephalocele vary?

The severity of encephalocele symptoms ranges from mild to life-threatening. Small, frontal lesions may only present as a nasal deformity or cosmetic concern with minimal cognitive impact. Conversely, large occipital encephalocele cases often involve significant brain tissue involvement, leading to severe neurological deficits, motor dysfunction, and chronic health challenges that impact daily quality of life.

When should families seek immediate medical attention?

Early warning signs for infants with an encephalocele include rapid head circumference growth, persistent vomiting, bulging fontanelles, or signs of infection at the site of the protrusion. If you notice signs of meningitis, such as fever, extreme lethargy, or neck stiffness in a child diagnosed with an encephalocele, seek emergency medical care immediately. Symptoms may progress as the child grows, necessitating ongoing monitoring by a neurosurgical team to manage potential shunt complications or seizure activity.

Next steps

• Consult a pediatric neurosurgeon to discuss surgical correction and long-term management.


• Connect with the 27 members of the encephalocele community at DiseaseMaps.org to share experiences.


• Schedule regular evaluations with a multidisciplinary team, including neurologists, physical therapists, and speech therapists.

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 defect (Encephalocele).


• Online Mendelian Inheritance in Man (OMIM): #219650 Encephalocele.


• Journal of Neurosurgery: Clinical review of congenital cranial vault defects.