Clues to Chiari: A family’s search makes all the difference

by Nancy Fliesler on December 3, 2012

Ryan

At 7 months old, Ryan Murphy of Ulster County, NY, was a full-term, healthy, happy baby. He weighed almost 23 pounds—in the 95th percentile for his age.

“Everything was picture perfect until he was around 9 months old,” says his father, Justin. “He was thriving.”

But then things changed. Ryan began having difficulties feeding: He began coughing and choking.

“Over the next few months, it progressively got worse,” recalls his mother, Kerri. “Then solids became a problem. He would gag, throw up, cough.”

But Ryan began losing weight. An ear, nose and throat specialist (ENT) recommended a modified barium swallow test, which showed that Ryan was aspirating liquids into his lungs. Refusing thickened liquids, Ryan could drink only through a low-flow bottle nipple designed for preemies.


Then came an injection of a collagen gel around Ryan’s larynx, on the theory that he might have an abnormal opening in his larynx, a rare condition known as a laryngeal cleft.

Even more alarming, his head had begun to lag back like a newborn’s when his parents picked him up. A pulmonologist suggested a brain MRI, but a neurologist felt the family should wait a few months to see if Ryan would outgrow it.

The Murphys knew instinctively that he wouldn’t. “We felt we had to keep pursuing it,” says Justin. “All this time Ryan hadn’t gained any weight—he was down to 21 pounds—and he was losing developmental skills.”

Their gut instincts, paired with research, steered them toward Boston. Kerri dialed the main number of Boston Children’s Hospital, not knowing where to start—Gastroenterology? Otolaryngology? Another neurologist? The family saw pediatric pulmonologist Debra Boyer, MD, in April 2012.

Kerri, Ryan, Justin and their team at Boston Children's

Boyer reviewed Ryan’s chest X-rays and suggested a bronchoscopy to examine his throat, larynx, trachea and lower airways. But she wondered if Ryan’s mysterious feeding and swallowing difficulties might stem from a problem in his brain or nervous system.

“At 17 months, he couldn’t keep his head upright, and that’s something a 5-month-old can control,” she says. “And he was losing other milestones. You can’t just sit on something like that.”

Boston Children’s neurologist Sharon Parnes, MD, agreed. “He was choking quite a bit, which poses a risk for aspiration pneumonia, and couldn’t lift his head while lying down,” she recalls. “I wondered if there was a problem with his lower brainstem, which controls chewing and swallowing, and might relate to his neck weakness.”

She recommended an MRI scan as soon as possible. It left no question. Ryan had a Chiari malformation: brain tissue in his cerebellum was protruding down through the base of the skull, putting pressure on his brainstem and spinal cord. He also had a syrinx—a well of backed-up fluid, also pressing on his spinal cord.

“The compression was already affecting his ability to walk up and down steps—he had to crawl,” says Neurologist-in-Chief Scott Pomeroy, MD, PhD. “We said, ‘next step neurosurgery, do not pass go.’”

“Up until the MRI, everyone thought Ryan had a gastrointestinal-related swallowing problem,” says Kerri. “Then everything changed.”

The Murphys met with Neurosurgeon-in-Chief Alan Cohen, MD, FACS, FAAP, and a week later, Ryan had surgery.

“Up until the MRI, everyone thought Ryan had a gastrointestinal-related swallowing problem,” says Kerri. “Then everything changed.”

Cohen made an incision at the base of Ryan’s skull, widened the opening through which his cerebellum was protruding, and removed the uppermost bones of Ryan’s spine. He then loosened soft tissue and ligaments that were also constricting Ryan’s spine and made sure his cerebrospinal fluid was flowing normally.

“His brain was being squeezed out of his head through a small opening,” Cohen explains. “We just loosened the belt around the brain stem a few notches.”

Within 48 hours, 18-month-old Ryan walked—not crawled—up the stairs. By the time he left the hospital, his swallowing and head control had improved. The feeding tube he’d had placed to help him gain weight was removed. His irritability—which Kerri speculates came from bad headaches—was largely gone. “He’s more jovial and laughing more, wants to play more,” she said shortly before discharge. “He probably was in pain and couldn’t tell us.”

About six months out, Ryan continues to do well. “He’s gained weight, he’s happy, he’s social, he’s running around the house destroying everything, climbing up things and fighting with his sister—just like a regular kid,” Kerri reports.

Could Ryan have avoided this long journey? It seems so in retrospect, but at the time it wasn’t so obvious. That’s where a parent’s instincts come in. “This was a kid who had had pulmonary, ENT and GI workups—barium swallows, bronchoscopies, procedures on his vocal cords,” says Cohen. “The family’s persistence is what led to the diagnosis.”

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