Which are the symptoms of Encephalocele?

Symptoms of Encephalocele

Encephalocele is a rare congenital condition characterized by the protrusion of brain tissue through an opening in the skull. This condition occurs during fetal development when the neural tube, which forms the brain and spinal cord, fails to close completely. Encephalocele can affect various parts of the brain and skull, leading to a range of symptoms and complications.

The symptoms of encephalocele can vary depending on the size, location, and severity of the malformation. In some cases, the condition may be mild and cause minimal symptoms, while in others, it can be more severe and result in significant neurological deficits.

Physical Signs:

One of the most noticeable symptoms of encephalocele is the presence of a visible sac-like protrusion on the head or face. This sac may contain brain tissue, cerebrospinal fluid, and meninges. The size and location of the sac can vary, and it may be covered by a thin layer of skin or a membrane.

Neurological Symptoms:

Encephalocele can lead to various neurological symptoms, including:

• Developmental Delays: Children with encephalocele may experience delays in reaching developmental milestones, such as sitting, crawling, or walking.


• Cognitive Impairment: Depending on the extent of brain involvement, individuals with encephalocele may have intellectual disabilities or learning difficulties.


• Seizures: Epileptic seizures are common in people with encephalocele due to abnormal brain development and electrical activity.


• Movement Disorders: Some individuals may have problems with coordination, muscle weakness, or involuntary movements.


• Vision and Hearing Problems: Encephalocele can affect the optic nerves and structures responsible for hearing, leading to visual impairments or hearing loss.

Other Complications:

Encephalocele can also be associated with other complications, such as:

• Hydrocephalus: The abnormality in brain development can disrupt the flow and absorption of cerebrospinal fluid, leading to a buildup of fluid in the brain (hydrocephalus). This can cause an enlarged head, vomiting, irritability, and changes in consciousness.


• Infections: The exposed brain tissue is vulnerable to infections, such as meningitis, which can cause fever, headache, stiff neck, and other signs of infection.


• Facial Deformities: Depending on the location of the encephalocele, it may cause facial asymmetry or other physical abnormalities.

Treatment and Management:

Encephalocele is typically diagnosed during prenatal ultrasound or after birth through physical examination and imaging tests. The treatment approach depends on the size, location, and associated complications of the encephalocele.

Surgical intervention is often required to remove or repair the protruding brain tissue and close the skull defect. The timing of surgery may vary depending on the individual case, but early intervention is generally recommended to prevent infections, further brain damage, and to improve long-term outcomes.

Following surgery, individuals with encephalocele may require ongoing medical care, including monitoring for complications, physical therapy, occupational therapy, and educational support to address developmental delays and cognitive impairments.

In conclusion, encephalocele is a rare condition characterized by the protrusion of brain tissue through an opening in the skull. The symptoms can vary widely, ranging from physical signs such as a visible sac-like protrusion to neurological symptoms like developmental delays, seizures, and movement disorders. Other complications may include hydrocephalus, infections, and facial deformities. Early diagnosis, surgical intervention, and ongoing medical care are crucial for managing encephalocele and optimizing long-term outcomes.