Rare disorder makes girl's skull too small for brain

Six-year-old Allie Barone had been suffering from severe headaches for a few years — and since her family has a history of epilepsy and migraines, her mother, Stephanie, decided it was finally time to see a specialist.

An MRI revealed Allie had Type I Chiari malformation, which meant the back of her skull was too small for its contents.

"Essentially, what happens, the cerebellum tonsils are pushing through the bottom of the skull and potentially putting pressure on the spinal cord and the tissue of the spinal cord," said Dr. Robert Keating, professor and chief of neurosurgery at Children's National Medical Center in Washington, D.C.

Allie, who lives in Clinton, N.Y., initially went to the Chiari Institute on Long Island, but her parents decided to see Keating for a second opinion.

Keating said the symptoms, which are multiple and vary depending on the patients' age, include headaches and occipital headaches (often made worse by excursion such as running or even sneezing), neurological issues or double vision, and/or the feeling of pins and needles in the legs.

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Approximately one percent of the U.S. population has Chiari malformation — and Keating said it's not just kids who are being diagnosed these days; adults in their 20s and 30s are being diagnosed incidentally.

Chiari malformations can be caused by structural defects in the brain and spinal cord, according to the National Institute of Neurological Disorders and Stroke, or can be caused if too much spinal fluid is drained from the back in cases of injury. Patients like Allie may just have a genetic predisposition.

Not all Type I Chiari malformations present with symptoms, and there are at least three other types of malformations (Type II usually involves a form of spina bifida; Type III is the most serious and causes severe neurological defects; Type IV may have parts of the cerebellum missing and parts of the skull and spinal cord may be visible to the naked eye).

"Her brain stem was compressed and squished through the opening of the base of her skull, where the skull meets the spinal cord; it's supposed to be wide open," Stephanie Barone said. "When the spinal fluid couldn't get into her brain, that's why she had the headaches."

Barone said she and her husband, Rob (who also have another daughter, Claire, 8), decided to go with Keating for what they thought would be a simple surgery. They checked into the hospital on Aug. 1.

During the decompression procedure, Keating went in through the neck and removed some of the bone.

Using ultrasound, he opened the covering to her brain. Under the microscope, he saw there were obstructions to the spinal fluid, so he cut those out too. The whole process took about three or four hours.

However, in a rare event, Allie began leaking spinal fluid from her incision about three or four days after that initial surgery, so Keating took her back into surgery.

"Now that we had opened the covering and put a patch on, it was leaking through the patch," he said. "Our goal was to go in and reinforce the stitches, and at the same time, place a tube in her lower back so we could divert the spinal fluid and let the neck heal."

Meanwhile, Allie was starting to feel better. She was sitting up and drawing, which is her favorite pastime, and the family still hoped for a speedy discharge.

However, just when it looked like she was healing, and Keating started to reduce the drainage from the tube, she began leaking spinal fluid again. A third surgery would have to be performed.

"The feeling is, 'Why are we having issues?'" Keating said. "The answer was, she had hydrocephalus, or too much water in the brain. We needed to put a shunt in to remove the excess water."

This went well for the next few days, and the Barones were literally going over discharge papers as Allie sat a table drawing, bent over. But every time Allie looked up, they noticed the leakage once again.

Artwork provides insight

"She'd look down at her drawing, and then look up; and it would drip down the back of her neck," Barone said. "She just said, 'It's dripping again, Mommy;' and we both knew it meant we weren't leaving the next morning, and that she needed another surgery. ...It was a heartbreaking hour for both of us, and then turned out to be what finally helped the doctors find the problem and get us home."

Keating's colleague performed the fourth surgery, who told Barone that while the standard way of performing the surgery was to lie the patient face down, she had decided to sit Allie up — like she was drawing — and that's when doctors noticed her second vertebrae was also abnormally shaped and acting like a knife, scraping the dura (the outer layer of three membranes that surround the brain and spinal cord).

"It was another abnormality that no one knew about," said Barone, who credits Keating and his team for making her daughter as if nothing ever happened. "She started school (last week) and she has more energy than ever. She's like a whole new kid."

Allie will have to return to D.C. for a checkup at the end of September. Her beaded stitches will be removed then, and hopefully some of her restrictions will be lifted at that point.

"My thing is, I learned from this," Barone said. "Do your homework, advocate and be your own doctor, too. Get a second opinion; talk to which doctor and find which procedure you are comfortable with for your kid."

Keating said patients with Chiari malformations can go back to their usual activities rather quickly — in Allie's case, she's looking forward to skiing with her sister.

While there is data to back up a 10-year success rate, there aren't numbers for longer than that, Keating said.

"But that doesn't mean I'm not optimistic," he added.

Keating is pleased with Allie's overall outcome, and he stressed that most Chiari cases do not involve so many surgeries.

"She's quite a character," he said. "I'm looking forward to her long-term prognosis."

Click here to check out Allie's artwork on Facebook.