Welcome to the Spina Bifida Resource Center! Helpful videos by medical professionals, in-depth articles and clarity about SB are the useful things you’ll find here. In addition, you’ll find state specific information such as local clinics, charities, camps for children and more. We have everything you need to make your life easier as you begin to learn more about SB.
What is Encephalocele?
During fetal development when the neural tube fails to close completely it gives rise to an anomaly termed encephalocele. It is one of the important and well known causes of mortality and morbidity in infants1. It protrudes through the openings in the skull in the shape of cauliflower like protrusions of the brain and the membranes that cover it- that is, why it is also called cranium bifidum.
It can form a groove between forehead and nose, or on back of skull or in the middle of skull2. Recent studies show that it has more similarities with spina bifida (SB) than it has differences with it3.
These anomalies are rare and occur at a rate of one in 5000 live births worldwide. In Europe and North America, the encephaloceles at the back of skull are more common while frontal encephaloceles are more frequently seen in Southeast Asia, Africa, Malaysia, and Russia. The occurrence of these anomalies are related to many factors like a family history of SB, parental age and some the ethnic, genetic and environmental factors4.
If the protruded part consists of only cerebrospinal fluid (CSF) with covering membranes, it may be termed as meningocele and but if the brain matter is also present, it may be called encephalomeningocele. It can be classified into the following5:
Nasofrontal- between nose and front of head
Nasoethmoidal- between nose and ethmoidal sinuses
Naso-orbital- between nose and orbit
Recent studies show an association of these congenital anomalies with the following factors6:
Exposure to cancer causing agents
Exposure to tryptan blue- a stain used to color dead tissues
Decreased level of folic acids
Babies with this anomaly can present with the following features6:
Blindness- it can occur as the vision center is present in the back of brain.
Dr. Meara, Boston Children’s Hospital talks about some complications
In antenatal period, these anomalies can be diagnosed by ultrasonography. The typical ultrasonographic appearance of this anomaly is the presence of mass in the midline of the skull. Occasionally, a MRI may be needed for an accurate diagnosis. Alpha fetoprotein levels are usually not elevated. After birth, these anomalies can easily be diagnosed just by looking at them. A small encephalocele in the nasal or forehead region may not be detected. In such cases, physical and developmental delays can indicate the presence of this anomaly. Reparative surgery in infancy is the usual treatment of it6,7. During surgery following procedures are carried out:
Reposition of the involved area
Removal of protrusions
Correction of deformities
Relieving the CSF pressure
The recovery after surgery
The recovery of the patient after surgery depends upon different factors like age of the baby, size of it, involvement of brain tissue, location of it, extent of the repair and time spent in surgery. Most all babies need some breathing assistance after surgery that can be provided with the use of supplemental oxygen or by use of an endotracheal tube. Some babies may require total per-enteral nutrition after surgery for some time7.
This congenital anomaly affects almost 375 babies per year in United States. About 20% of babies with it are delivered as still-born. About 21% of babies with this anomaly survive during the process of birth. Of those babies who born alive, only 50% survive. Location of the encephalocele is the major determinant of the prognosis of this disorder. Frontal encephalocele has the best prognosis (i.e., 100%). If they are present on the back of skull the survival rate is about 55%7.
A mother talks about her experience with this condition on the Jeremy Kyle talk show.
Amadi CE, Eghwrudjakpor PO. The pattern of distribution of encephalocele in University of Port Harcourt Teaching Hospital–a three year experience. Niger J Med 2013;22(1):19-23.
Through our content we want to empower the lives of people with SB and to promote the prevention of it through education, public awareness and research. Working together with local organizations we aim to enhance the lives of those who are affected with SB. We want to build a stronger community and create a better future for those with SB.