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  • Encephaloceles are rare neural tube defects where brain membranes protrude through openings in the skull.

    • Encephaloceles cause a groove down the middle of the skull, between the forehead and nose or on the back of the skull.
    • The severity of encephalocele varies, depending on its location.

    How Children’s approaches encephaloceles

    The Advanced Fetal Care Center of Boston Children's Hospital supports the needs of your family at every step of care for encephaloceles, from diagnosis and counseling through treatment and follow-up. The Center's groundbreaking work has significantly improved outcomes for babies with this condition, while delivering hope and compassionate care to families along the way.

    A patient’s story: Domic's Amazing Transformation

    A patient’s story: From Haiti to Boston

    Dumanel"The whole area around the eyes, nose and forehead was reconstructed fairly dramatically… He had two very complex issues, and given that, he's done remarkably well."  --John Meara, MD, DMD, MBA, about surgery on a patient with an encephalocele.

  • How common are encephaloceles?

    Encephaloceles occur rarely, at a rate of one per 5,000 babies 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 a child having an encephalocele.

    The condition can occur in families with a family history of spina bifida.

    What causes encephaloceles?

    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 teratogens (similar to x-rays), trypan blue (a stain used to color dead tissues or cells blue), and arsenic may damage the developing fetus and cause encephaloceles.

    Proper levels of folic acid have been shown to help prevent encephaloceles when taken before pregnancy, and early in pregnancy. We recommend that women who may become pregnant take 400 micrograms of folic acid daily.

    What are the different types of encephaloceles?

    Encephaloceles are generally classified into the following categories based on where they occur and what they involve:

    • nasofrontal - present in the nose and the forehead
    • nasoethmoidal - present in the nose and the ethmoid sinus
    • naso-orbital - present in the nose and the eye.
    • meningocele - if the bulging portion contains only cerebrospinal fluid and the overlaying membrane
    • encephalomeningocele - if brain tissue is also involved

    What are the symptoms of encephaloceles?

    Encephaloceles are often accompanied by craniofacial abnormalities or other brain malformations.

    Your child's symptoms may include:

    • neurologic problems
    • hydrocephalus (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
    • seizures
  • How are encephaloceles diagnosed?

    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.

  • What sort of treatment will my child receive?

    Currently, the only effective treatment for encephaloceles is surgery, which is generally performed while your child is an infant.

    • The extent to which the problem can be corrected depends on the location and size of the encephaloceles; usually, large protrusions can be removed without causing major disability.

    What the surgery does

    Surgery moves the bulging area back into the skull, removes the protrusions, and corrects the deformities, typically relieving pressure that can delay normal brain development.

    Occasionally, shunts are placed to drain excess cerebrospinal fluid from the brain.

    Your child's doctor's goals of treatment include:

    • closing of open skin defects to prevent infection and dryness of brain tissue
    • removing of nonfunctional cerebral tissue outside the brain
    • doing a total craniofacial reconstruction with particular emphasis on avoiding the common long-nose deformity; without proper management, the long-nose deformity can be more obvious after repair.

    What's my child's long-term outlook?

    Your child's recovery is difficult to predict prior to surgery, and depends on the type of brain tissue involved and location of the encephaloceles.

    • If his surgery is successful, and developmental delays have not occurred, your child can develop normally.

    Where neurologic 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 complications during surgery.
  • Craniofacial Webcast: Repair of an encephalocele and arachnoid cyst


    Watch a Craniofacial Webcast.

    While traveling to Haiti on a surgical trip, Children's plastic-surgeon-in-chief John Meara, MD, identified an infant with a rare frontal encephalocele. Though the disorder is infrequently seen in American hospitals, Meara has extensive experience with encephaloceles and knew the infant's chances of treatment were nonexistent in the poor country. The child was brought to Children's, where his diagnosis became more complicated. During a pre-operative visit, a CT scan revealed a large arachnoid cyst, which is a fluid-filled sac, taking up almost 60 percent of the space where the right side of his brain should have been. The cyst was potentially life-threatening, as it could enlarge and put pressure on his brain.

    Neurosurgeon Ed Smith, MD, was brought in to collaborate on the surgery. The intensive surgery took a full day, and involved draining the cyst, removing the protruding brain matter from the encephalocele and repairing the defect in the skull. Today, the infant is back in Haiti after a successful operation. 

  • A new face

    Sporting a cheeky grin, Dumanel Luxama shrieks and slaps the couch in the Brockton house that he and his father, Almane, have called home for the past three months. Tugging on the curtains, the 13-month-old baby from Haiti lets in a stream of light that spills onto his face, illuminating the feathery scars around his eyebrows and the one elongated scar wrapping around the crown of his head—the only signs of the major surgery the duo traveled 1,600 miles for.

    In a way, serendipity saved him. Dumanel, born with an extremely rare condition in one of the poorest countries in the world, found his way to a surgeon on a medical mission from Boston Children's Hospital, who recognized and diagnosed his condition on site. Dumanel, the Luxamas' first and only child, was born in Coutan, a village in the central plateau of Haiti last fall. During the delivery, it was obvious there was something unusual about his face; instead of a flat piece of skin between his dark eyebrows, he had a swollen protrusion half the size of a tennis ball.

    His father, Almane, wasn't sure what to make of it. "He was very strong," he recalls through a translator, "but he had a blob on his forehead." Almane's family believed, like local Haitian folklore suggests, that if a mother is craving something when she is pregnant, it can leave a birthmark on the child, the physical manifestation of an unsatisfied desire. But in fact, Dumanel had an encephalocele, a rare neurological defect in which the bones of the skull don't close completely during development, creating a gap through which brain tissue can protrude.

    Regardless of the cause, Almane was determined to find a remedy for his son's ailment. Two days after Dumanel's birth, Almane and Dumanel left Dumanel's mother and their humble dirt-floored home to begin a trip that would eventually take him all the way to Boston. They traveled for a full day, mostly on foot, to get to a local hospital. That hospital referred them to another. Over the next six months, they traveled to several hospitals around Haiti. Finally, Almane was told to go to the town of Hinche, where foreign doctors would be visiting in March.

    In fact, a group of doctors from the United States, including John Meara, MD, DMD, MBA, plastic surgeon-in-chief at Children's, were visiting with Operation Smile and Partners in Health (PIH), two non-profits that had teamed up to offer free reconstructive surgeries to poor children and young adults suffering from cleft lip and palate. Paul Farmer, MD, PhD, the co-founder of PIH, and Meara had trained together at Boston's Brigham and Women's Hospital in the mid-1990s. For years, Farmer had discussed with Meara the need for surgical care in Haiti, where 80 percent of the population lives under the poverty line. Like Almane, who is a farmer, two-thirds of all Haitians depend on the agricultural sector, and are vulnerable because of frequent natural disasters. Health care services and health care infrastructure do not meet the high demands of the population. Meara's curiosity was piqued; soon he was working with Farmer to meet his goal of expanding surgical care in the developing country.

    It was on Meara's second trip to Haiti that he met the Luxamas. He traveled from Port au Prince to Hinche by car, a long journey due to the decaying nature of the roads. "It might only be 100 miles, but it actually takes about six hours by car," he says. When he arrived, lines of people were waiting patiently—dozens more than the group would be able to treat. Midway down the line, Dumanel caught Meara's eye. "I could see this poor little fellow," he says, "and I could tell just from looking at him that he had a frontal encephalocele, which is quite rare."

    Though the disorder is infrequently seen in American hospitals, Meara had extensive experience with encephaloceles when he worked in Australia. "The prevalence in Southeast Asia is fairly high," he says, explaining that he had at least five cases when he worked there. "But in a decade working at a major medical center in North America, one might never see a case." Meara knew that Dumanel's chances of receiving proper medical attention for his disorder in Haiti were nil: The services needed were just not available. He also knew that few doctors, in Haiti or the United States, had any prior experience with encephalocele.

    Almane had sold his only two cows, endangering his livelihood, to fund his desperate medical search throughout the country. But he was told his journey was about to get a lot longer. He had assumed the surgery could be done on the spot at the hospital, but that was not the case. "They took a lot of pictures, and told me to go and get a passport," he says. A partnership formed: PIH, which organized and funded the visa and travel expenses; Children's, whose doctors donated their time; and the philanthropist organization Ray Tye Medical Aid Foundation, which donated money to cover hospital expenses. Five months later, the father and son had passports and were on their way to Massachusetts.

    Meanwhile, in Brockton, Mass., Hermide Mercier, MD, MPH, was preparing for the Luxamas' arrival at her home. A longtime PIH worker, Mercier shares her home with many Haitian families who come to the United States for medical help. "Partners in Health called me a couple days before and said, "We have somebody coming," she says. Before the two arrived, all their appointments at Children's had been scheduled.

    Once they made it to Children's, Dumanel's diagnosis became more complicated. During a pre-operative visit, a CT scan revealed a large arachnoid cyst, which is a fluid-filled sac, taking up almost 60 percent of the space where the right side of his brain should have been. The cyst was potentially life-threatening, as it could enlarge and put pressure on his brain. "It was fortuitous in this case that we found him, because although it's possible he could have lived for quite some time with the encephalocele, the arachnoid cyst could have given him more difficulty," Meara says.

    Neurosurgeon Ed Smith, MD, was brought in to collaborate on the surgery. The doctors had to first decide whether they should treat the two conditions in two separate surgeries, or try and do them together. After talking it over, Smith presented the case to colleagues in the Neurosurgery Department, who recommended doing both at once. The intensive surgery took a full day, and involved draining the cyst, removing the protruding brain matter from the encephalocele and repairing the defect in the skull. "The whole area around the eyes, nose and forehead was reconstructed fairly dramatically," recalls Meara.

    Almane lingered in the waiting room, unsure of what the outcome would be. "I wasn't worried at the time because I knew he was in good hands," he says. But as soon as he saw Dumanel, he got goose bumps and his heart started beating fast. "I got anxious afterwards, when they told me everything was OK," he says. "It was then that I saw the reality of what could have happened." Two months after the operation, feeding Dumanel a bottle on the couch in Brockton, Almane says he feels like heaven came down to earth to help him. "I feel like I'm delivered," he says, as Dumanel fidgets and blows milk bubbles through his lips. "I was going all over the place trying to find help. I feel so blessed. This hospital is really doing the work of God."

    Since the surgery, Dumanel's motor skills have improved rapidly. Before the surgery, he could not crawl—most likely due to his impaired vision, as the protrusion blocked his line of sight. Now, he is all over the place, with lightning speed. "He's gained weight, he's so healthy," Almane says, wiping some dribble off Dumanel's shirt. He believes that Dumanel understands something is very different about him now. "He used to touch his forehead a lot," he says. "After the surgery, he was touching it a little—now he doesn't touch it anymore. He doesn't need to turn his head to see either."

    Hermide also testifies to the amazing leaps in Dumanel's development since the surgery. "He's so different now, he's crawling and trying to talk," she says. "Before, it was so hard because he couldn't see where he was going,"

    Back at Children's, a model of Dumanel's skull (created with the data from a CT scan) sits prominently on Meara's desk. After waiting a little over two months to ensure there were no complications, the plastic surgeon gave word to Almane and Dumanel that they could go home. Dumanel's mother, who had not yet seen her son post-surgery, was anxiously waiting.

    It wasn't long before Meara saw Dumanel again, however: In December, he visited Haiti on another surgical trip, and checked on Dumanel's progress. So far, Meara is extremely pleased with the results of the surgery. "He had two very complex issues, and given that, he's done remarkably well," he says.

    That's a subdued reaction compared to that of the father who saw his son get an unlikely new chance at life: "I did not want him to have to live like that," Almane says forcefully. "I would have spent everything I had until I died, to see his head fixed."

    Read a story about how the doctors saved this child.

    Editor's note: After the Boston Globe reported on Dumanel's extraordinary journey in a November article, readers responded with donations to help replace Almane's cows.

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