Encephalocele
Encyclopedia
Encephalocele, sometimes known by the Latin
name cranium bifidum, is a neural tube defect characterized by sac-like protrusions of the brain
and the membrane
s that cover it through openings in the skull
. These defects are caused by failure of the neural tube to close completely during fetal development. Encephaloceles cause a groove down the middle of the skull, or between the forehead and nose, or on the back side of the skull. The severity of encephalocele varies, depending on its location.
and the overlaying membrane, it may be called a meningocele. If brain tissue is present, it may be referred to as an encephalomeningocele.
.
(substances known to cause birth defects), trypan blue
(a stain used to color dead tissues or cells blue), and arsenic
may damage the developing fetus
and cause encephaloceles.
(cerebrospinal fluid accumulated in the brain), spastic quadriplegia
(paralysis of the limbs), microcephaly
(an abnormally small head), ataxia
(uncoordinated muscle movement), developmental delay, vision problems, mental and growth
retardation, and seizures.
are placed to drain excess cerebrospinal fluid from the brain.
The goals of treatment include:
Proper levels of folic acid
have been shown to help prevent such defects when taken before pregnancy, and early in pregnancy. It is recommended that women who may become pregnant take 400 micrograms of folic acid daily.
and developmental damage has occurred, the specialists will focus on minimizing both mental and physical disabilities.
In general, when the bulging material consists of primarily cerebrospinal fluid, a complete recovery can occur. When a large amount of brain tissue is present in the encephaloceles, there is a higher chance of perioperative complication.
is a documentary co-produced by the Discovery Channel
and BBC 1 in conjunction with century films aired on 21 June 2000. The Facemakers documents the remarkable changes that occurred in the lives of three children as a result of Operation Smile's visit to Davao City
in the Philippines
in 1999. One child in particular, Abel Gastardo, had a condition too severe to be treated during the time of the mission. Abel suffered from a rare nasofrontal facial encephalocele, an extreme protrusion of brain tissue from the front of his skull. The documentary follows Abel to the United States
seven months later to receive corrective surgery. He was brought over by Operation Smile
to receive the major surgery in Virginia
, at the Children's Hospital of the King's Daughters
. The other facial defects within the fifty minute programme consisted of children with facial cleft
and cleft lip and palate which may be associated with encephalocele.
In November 2006, there was an hour-long documentary on the British
television network Channel 4
about Facing the World
, an organization that helps children with severe facial disfigurements in developing countries. One of the children featured on the documentary was Ney, a Cambodian
boy who suffered from a severe form of encephalocele, wherein part of his brain protruded through his face.
In August 2008, Partners in Health
along with surgeons in the Department of Plastic Surgery at Children's Hospital Boston brought a young boy named Dumanel Luxama from his home in Haiti to Boston for the repair of a frontal encephalocele as well as an arachnoid cyst. Dumanel and his father's trip to Boston was covered extensively by the Boston Globe, and his case was presented in a live webcast that aired on January 28, 2009. Participating in the webcast and providing expert commentary were Dr. John Meara, Plastic Surgeon-in-Chief at Children's Hospital Boston, Dr. Edward Smith, Neurosurgeon at Children's Hospital Boston, and Dr. David Walton. Dr. Walton works with Partners in Health
and was part of the team that arranged for Dumanel and his father's transportation to the United States.
Latin
Latin is an Italic language originally spoken in Latium and Ancient Rome. It, along with most European languages, is a descendant of the ancient Proto-Indo-European language. Although it is considered a dead language, a number of scholars and members of the Christian clergy speak it fluently, and...
name cranium bifidum, is a neural tube defect characterized by sac-like protrusions of the brain
Brain
The brain is the center of the nervous system in all vertebrate and most invertebrate animals—only a few primitive invertebrates such as sponges, jellyfish, sea squirts and starfishes do not have one. It is located in the head, usually close to primary sensory apparatus such as vision, hearing,...
and the membrane
Biological membrane
A biological membrane or biomembrane is an enclosing or separatingmembrane that acts as a selective barrier, within or around a cell. It consists of a lipid bilayer with embedded proteins that may constitute close to 50% of membrane content...
s that cover it through openings in the skull
Human skull
The human skull is a bony structure, skeleton, that is in the human head and which supports the structures of the face and forms a cavity for the brain.In humans, the adult skull is normally made up of 22 bones...
. These defects are caused by failure of the neural tube to close completely during fetal development. Encephaloceles cause a groove down the middle of the skull, or between the forehead and nose, or on the back side of the skull. The severity of encephalocele varies, depending on its location.
Classifications
Encephaloceles are generally classified as nasofrontal, nasoethmoidal, or naso-orbital, however, there can be some overlap in the type of encephalocele. If the bulging portion contains only cerebrospinal fluidCerebrospinal fluid
Cerebrospinal fluid , Liquor cerebrospinalis, is a clear, colorless, bodily fluid, that occupies the subarachnoid space and the ventricular system around and inside the brain and spinal cord...
and the overlaying membrane, it may be called a meningocele. If brain tissue is present, it may be referred to as an encephalomeningocele.
Occurrence
Encephaloceles occur rarely, at a rate of one per 5,000 live births worldwide. Encephaloceles of the back of the head are more common in Europe and North America, while encephaloceles on the front of the head more frequently occur in Southeast Asia, Africa, Malaysia, and Russia. Ethnic, genetic, and environmental factors, as well as parental age, can all affect the likelihood of encephaloceles. The condition can occur in families with a family history of spina bifidaSpina bifida
Spina bifida is a developmental congenital disorder caused by the incomplete closing of the embryonic neural tube. Some vertebrae overlying the spinal cord are not fully formed and remain unfused and open. If the opening is large enough, this allows a portion of the spinal cord to protrude through...
.
Causes
Although the exact cause is unknown, encephaloceles are caused by failure of the neural tube to close completely during fetal development. Research has indicated that teratogensTeratology
Teratology is the study of abnormalities of physiological development. It is often thought of as the study of human birth defects, but it is much broader than that, taking in other non-birth developmental stages, including puberty; and other non-human life forms, including plants.- Etymology :The...
(substances known to cause birth defects), trypan blue
Trypan blue
Trypan blue is a vital stain used to selectively colour dead tissues or cells blue. It is a diazo dye.Live cells or tissues with intact cell membranes are not coloured. Since cells are very selective in the compounds that pass through the membrane, in a viable cell trypan blue is not absorbed;...
(a stain used to color dead tissues or cells blue), and arsenic
Arsenic
Arsenic is a chemical element with the symbol As, atomic number 33 and relative atomic mass 74.92. Arsenic occurs in many minerals, usually in conjunction with sulfur and metals, and also as a pure elemental crystal. It was first documented by Albertus Magnus in 1250.Arsenic is a metalloid...
may damage the developing fetus
Fetus
A fetus is a developing mammal or other viviparous vertebrate after the embryonic stage and before birth.In humans, the fetal stage of prenatal development starts at the beginning of the 11th week in gestational age, which is the 9th week after fertilization.-Etymology and spelling variations:The...
and cause encephaloceles.
Symptoms
Encephaloceles are often accompanied by craniofacial abnormalities or other brain malformations. Symptoms may include neurologic problems, hydrocephalusHydrocephalus
Hydrocephalus , also known as "water in the brain," is a medical condition in which there is an abnormal accumulation of cerebrospinal fluid in the ventricles, or cavities, of the brain. This may cause increased intracranial pressure inside the skull and progressive enlargement of the head,...
(cerebrospinal fluid accumulated in the brain), spastic quadriplegia
Spastic quadriplegia
Spastic quadriplegia, sometimes called spastic tetraplegia, is the version of spastic diplegia that affects all four limbs rather than just the legs. It is defined by spasticity, rather than the paralysis that defines quadriplegia...
(paralysis of the limbs), microcephaly
Microcephaly
Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than average for the person's age and sex. Microcephaly may be congenital or it may develop in the first few years of life...
(an abnormally small head), ataxia
Ataxia
Ataxia is a neurological sign and symptom that consists of gross lack of coordination of muscle movements. Ataxia is a non-specific clinical manifestation implying dysfunction of the parts of the nervous system that coordinate movement, such as the cerebellum...
(uncoordinated muscle movement), developmental delay, vision problems, mental and growth
retardation, and seizures.
Diagnosis
Usually encephaloceles are noticeable deformities and are diagnosed immediately after birth, but a small encephalocele in the nasal or forehead region can go undetected. Various physical and mental developmental delays can indicate the presence of encephaloceles.Treatment
Currently, the only effective treatment for encephaloceles is reparative surgery, generally performed during infancy. The extent to which it can be corrected depends on the location and size of the encephaloceles; however large protrusions can be removed without causing major disability. Surgery repositions the bulging area back into the skull, removes the protrusions, and corrects the deformities, typically relieving pressure that can delay normal brain development. Occasionally, shuntsCerebral shunt
Cerebral shunts are commonly used to treat hydrocephalus, the swelling of the brain due to excess buildup of cerebrospinal fluid . If left unchecked, the cerebral spinal fluid can build up leading to an increase in intracranial pressure which can lead to intracranial hematoma, cerebral edema,...
are placed to drain excess cerebrospinal fluid from the brain.
The goals of treatment include:
- closure of open skin defects to prevent infection and desiccationDesiccationDesiccation is the state of extreme dryness, or the process of extreme drying. A desiccant is a hygroscopic substance that induces or sustains such a state in its local vicinity in a moderately sealed container.-Science:...
of brain tissue - removal of nonfunctional extracranial cerebral tissue with water-tight closure of the duraDura materThe dura mater , or dura, is the outermost of the three layers of the meninges surrounding the brain and spinal cord. It is derived from Mesoderm. The other two meningeal layers are the pia mater and the arachnoid mater. The dura surrounds the brain and the spinal cord and is responsible for...
- total craniofacial reconstruction with particular emphasis on avoiding the long-nose deformity (nasal elongation that results from depression of the cribiform plate and nasal placodeNasal placodeThe nasal placode gives rise to the olfactory epithelium of the nose.The terms "nasal sac" or "nasal pit" are sometimes used to describe an intermediate structure arising between the placode and epithelium chronologically....
). Without proper management, the long-nose deformity can be more obvious after repair.
Proper levels of folic acid
Folic acid
Folic acid and folate , as well as pteroyl-L-glutamic acid, pteroyl-L-glutamate, and pteroylmonoglutamic acid are forms of the water-soluble vitamin B9...
have been shown to help prevent such defects when taken before pregnancy, and early in pregnancy. It is recommended that women who may become pregnant take 400 micrograms of folic acid daily.
Recovery
Recovery is difficult to predict prior to surgery, and depends on the type of brain tissue involved and location of the encephaloceles. If surgery is successful, and developmental delays have not occurred, a patient can develop normally. Where neurologicNeurology
Neurology is a medical specialty dealing with disorders of the nervous system. Specifically, it deals with the diagnosis and treatment of all categories of disease involving the central, peripheral, and autonomic nervous systems, including their coverings, blood vessels, and all effector tissue,...
and developmental damage has occurred, the specialists will focus on minimizing both mental and physical disabilities.
In general, when the bulging material consists of primarily cerebrospinal fluid, a complete recovery can occur. When a large amount of brain tissue is present in the encephaloceles, there is a higher chance of perioperative complication.
Notable cases
The Facemakers: Operation SmileOperation Smile
Operation Smile is a not-for-profit medical service organization based in Norfolk, Virginia , founded in 1982. A secular NGO, the children's medical charity provides cleft lip and palate repair surgeries to children worldwide, assists countries in reaching self-sufficiency with these surgeries, and...
is a documentary co-produced by the Discovery Channel
Discovery Channel
Discovery Channel is an American satellite and cable specialty channel , founded by John Hendricks and distributed by Discovery Communications. It is a publicly traded company run by CEO David Zaslav...
and BBC 1 in conjunction with century films aired on 21 June 2000. The Facemakers documents the remarkable changes that occurred in the lives of three children as a result of Operation Smile's visit to Davao City
Davao City
The City of Davao is the largest city in the island of Mindanao in the Philippines. Its international airport and seaports are among the busiest cargo hubs in the Philippines....
in the Philippines
Philippines
The Philippines , officially known as the Republic of the Philippines , is a country in Southeast Asia in the western Pacific Ocean. To its north across the Luzon Strait lies Taiwan. West across the South China Sea sits Vietnam...
in 1999. One child in particular, Abel Gastardo, had a condition too severe to be treated during the time of the mission. Abel suffered from a rare nasofrontal facial encephalocele, an extreme protrusion of brain tissue from the front of his skull. The documentary follows Abel to the United States
United States
The United States of America is a federal constitutional republic comprising fifty states and a federal district...
seven months later to receive corrective surgery. He was brought over by Operation Smile
Operation Smile
Operation Smile is a not-for-profit medical service organization based in Norfolk, Virginia , founded in 1982. A secular NGO, the children's medical charity provides cleft lip and palate repair surgeries to children worldwide, assists countries in reaching self-sufficiency with these surgeries, and...
to receive the major surgery in Virginia
Virginia
The Commonwealth of Virginia , is a U.S. state on the Atlantic Coast of the Southern United States. Virginia is nicknamed the "Old Dominion" and sometimes the "Mother of Presidents" after the eight U.S. presidents born there...
, at the Children's Hospital of the King's Daughters
Children's Hospital of The King's Daughters
Children's Hospital of The King's Daughters , located in Norfolk, Virginia, is the only freestanding children's hospital in Virginia and the home to one of the nation's top pediatric residency programs....
. The other facial defects within the fifty minute programme consisted of children with facial cleft
Facial cleft
A facial cleft is an opening or gap in the face, or a malformation of a part of the face. Facial clefts is a collective term for all sorts of clefts. All structures like bone, soft tissue, skin etc. can be affected. Facial clefts are extremely rare congenital anomalies...
and cleft lip and palate which may be associated with encephalocele.
In November 2006, there was an hour-long documentary on the British
United Kingdom
The United Kingdom of Great Britain and Northern IrelandIn the United Kingdom and Dependencies, other languages have been officially recognised as legitimate autochthonous languages under the European Charter for Regional or Minority Languages...
television network Channel 4
Channel 4
Channel 4 is a British public-service television broadcaster which began working on 2 November 1982. Although largely commercially self-funded, it is ultimately publicly owned; originally a subsidiary of the Independent Broadcasting Authority , the station is now owned and operated by the Channel...
about Facing the World
Facing the World
Facing the World is a United Kingdom-based charity that offers surgery to children with facial disfigurements. All the children offered surgery are from poor countries where they would have no other access to surgery to help them overcome their disfigurements....
, an organization that helps children with severe facial disfigurements in developing countries. One of the children featured on the documentary was Ney, a Cambodian
Khmer people
Khmer people are the predominant ethnic group in Cambodia, accounting for approximately 90% of the 14.8 million people in the country. They speak the Khmer language, which is part of the larger Mon–Khmer language family found throughout Southeast Asia...
boy who suffered from a severe form of encephalocele, wherein part of his brain protruded through his face.
In August 2008, Partners in Health
Partners In Health
Partners In Health is a Boston, Massachusetts-based non-profit health care organization dedicated to providing a "preferential option for the poor". It was founded in 1987 by Dr. Paul Farmer, Ophelia Dahl, Thomas J. White, Todd McCormack, and Dr...
along with surgeons in the Department of Plastic Surgery at Children's Hospital Boston brought a young boy named Dumanel Luxama from his home in Haiti to Boston for the repair of a frontal encephalocele as well as an arachnoid cyst. Dumanel and his father's trip to Boston was covered extensively by the Boston Globe, and his case was presented in a live webcast that aired on January 28, 2009. Participating in the webcast and providing expert commentary were Dr. John Meara, Plastic Surgeon-in-Chief at Children's Hospital Boston, Dr. Edward Smith, Neurosurgeon at Children's Hospital Boston, and Dr. David Walton. Dr. Walton works with Partners in Health
Partners In Health
Partners In Health is a Boston, Massachusetts-based non-profit health care organization dedicated to providing a "preferential option for the poor". It was founded in 1987 by Dr. Paul Farmer, Ophelia Dahl, Thomas J. White, Todd McCormack, and Dr...
and was part of the team that arranged for Dumanel and his father's transportation to the United States.
External links
- Overview at ucsf.edu
- Surgical procedure done to repair an encephalocele at Children's Hospital Boston - Webcast
- The chance of two lifetimes Boston Globe
- A gift for an ailing Haitian boy: 2 cows Boston Globe
- Monica - a case study of a young woman born with an occipital encephalocele