Rare DiseasesEncephalocele: Causes, Symptoms, Diagnosis, Treatment, and Management

Encephalocele: Causes, Symptoms, Diagnosis, Treatment, and Management

Encephalocele is a neurological anomaly or malformation in which the brain or the brain’s membranes protrude outside the skull at birth. Encephalocele is usually diagnosed during childbirth or the first few months after birth. There are different types of encephalocele depending on the region where the brain protrudes. It has two main types:

Anterior Encephalocele: It protrudes from the front region of the brain and is usually seen as a swelling in the forehead area.

Posterior Encephalocele: It protrudes from the back region of the brain or the cerebellum and is seen as a swelling in the back or the back of the head.

The treatment of encephalocele usually involves surgical intervention. Treatment and outcomes can vary depending on the type and size of encephalocele and other factors. Babies and children diagnosed with encephalocele are monitored and supported by a multidisciplinary healthcare team.

Causes of Encephalocele

The exact causes of encephalocele are not fully understood, but there are some possible factors and risk factors:

Genetic Factors: Family history can increase the risk of encephalocele.

Environmental Factors: Environmental factors that the mother is exposed to during pregnancy can increase the risk of encephalocele.

Nutrition and Vitamin Deficiencies: Poor nutrition or deficiencies in certain vitamins in the mother can increase the risk of encephalocele.

Other Congenital Anomalies: The presence of congenital anomalies in previous pregnancies or in the family can increase the risk of encephalocele.

Ethnic Factors: The risk of encephalocele may be higher in certain ethnic groups.

Symptoms of Encephalocele

The symptoms of encephalocele can vary depending on the type and severity of the abnormality:

  • Swelling or protrusion
  • Strabismus
  • Lack of control of eye muscles
  • Vision problems
  • Optic nerve damage
  • Feeding difficulties
  • Neurological symptoms

Diagnosis of Encephalocele

Encephalocele is usually diagnosed using a series of methods during childbirth or the first few months after birth:

Physical Examination: The physical examination of the baby’s head and skull after birth can help identify signs of congenital abnormalities such as encephalocele.

Computed Tomography (CT): CT scan can be used to determine the type and location of encephalocele.

Magnetic Resonance Imaging (MRI): MRI provides more detailed and sectional images and provides more information about the condition of the brain.

Ultrasound: Ultrasound scans while the baby is in the mother’s womb can help early detection of congenital abnormalities such as encephalocele.

Treatment of Encephalocele

The treatment of encephalocele is usually performed immediately after the baby is born or in the first few months after birth by an expert surgeon:

Surgical Intervention: The surgical procedure involves opening the region known as encephalocele and replacing the protruding brain tissue.

Skull Repair: The placed cover on the skull allows complete closure of the skull.

Supportive Care: Babies who have undergone encephalocele surgery are usually admitted to intensive care and closely monitored during the postoperative period.

Long-Term Monitoring: Babies and children who have undergone encephalocele surgery require long-term monitoring.

Management of Encephalocele

The management of encephalocele can vary depending on individual circumstances and the type of encephalocele:

Surgical Intervention: Since encephalocele is a congenital abnormality, treatment involves surgical intervention.

Intensive Care and Supportive Care: Babies who have undergone encephalocele surgery are admitted to intensive care and closely monitored during the postoperative period.

Long-Term Monitoring: Babies and children who have undergone encephalocele surgery require long-term monitoring.

Physical Therapy and Rehabilitation: Physical therapy and rehabilitation programs can be implemented to support the neurological development and motor skills of babies and children.

Special Education and Support: If intellectual disability or other special needs arise due to encephalocele, the child may require special education and support.

Family Counseling: Families of encephalocele cases can seek counseling and guidance on the care, health, and development of their children.

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