The Mount Sinai team that used an experimental treatment was led by interventional neuroradiologist Alejandro Berenstein, MD, and included Michelle Sorscher, RN, MSN, Clinical Program Manager, Neurosurgery.
When, in early 2017, the teacher of 14-year-old Shawn Svoboda called to say he was falling asleep in class, his mother wasn’t overly concerned, considering it typical teenage behavior.
However, when the teacher called a second time that same day to emphasize she thought this was something out of the ordinary, his mom requested that their pediatrician order a sleep study, as she had noticed subtle changes in Shawn, such as snoring, pulsating neck veins, muffled voice, clumsiness, and headaches, all of which she had chalked up to changes of puberty.
The results showed Shawn was suffering from central sleep apnea at the rate of 150 episodes per hour, and a brain MRI was immediately scheduled at their local hospital in Springfield, Massachusetts. The MRI showed an extensive, potentially lethal, arteriovenous (AV) fistula—an abnormal connection between an artery and a vein—at multiple sites in the brain, creating a complex tangle of blood vessels in the dura, or outer covering of the brain. Shawn was then referred for a genetics consult and a cardiology workup and met with a pediatric neurosurgeon in Connecticut.
After performing a brain angiogram, the neurosurgeon told Shawn’s parents that the condition was more extensive than originally believed and recommended that they take him to The Mount Sinai Hospital, to be seen by Alejandro Berenstein, MD, Professor of Neurosurgery, Radiology, and Pediatrics, at the Icahn School of Medicine at Mount Sinai, and Director of the Pediatric Cerebrovascular Program. Dr. Berenstein is a world-renowned interventional neuroradiologist who has vastly expanded the understanding and treatment of vascular abnormalities in the brain, pioneering the use of innovative substances to incrementally block off these abnormal blood vessels.
Without treatment, Dr. Berenstein says that Shawn was at risk for developing more neurological deficits, seizures, hemorrhage, or stroke. “He was a walking time bomb,” says his mom, Bonnie Kmon, RN, and an oncology certified nurse.
Typically, Dr. Berenstein would treat an AV fistula by injecting a standard medical-grade super glue—a lava-like embolism agent—through a catheter to seal the blood vessel, guided by real-time X-ray imaging.
Shawn’s situation was more complex: the extensive quantity needed would appear black in the X-ray, making it impossible for the surgical team to see what they were doing.
Dr. Berenstein was familiar with a different, liquid embolic super-glue substance being used outside of the United States called PHIL™ (Precipitating Hydrophobic Injectable Liquid), which is less dense and, using iodine, appears grey, instead of black, on an X-ray, making it possible to clearly see the areas being treated.
However, PHIL has not yet been approved by the U.S. Food and Drug Administration (FDA), so Dr. Berenstein and his team successfully petitioned the FDA to grant approval for a single patient compassionate use of PHIL, making Mount Sinai the first institution in the nation to use this agent. Dr. Berenstein was able to block off the abnormal blood vessels a few at a time.
The procedure had to be done in stages to allow the brain and heart to adjust to new blood-flow patterns. It took seven eight-hour procedures, over the course of more than a year, to complete treatment, and Shawn’s road to recovery was not an easy one. He developed blood clots in his brain on two separate occasions, had one grand mal seizure, and now needs to receive twice-daily injections of a blood thinner.
Amazingly, he has suffered no significant neurological deficits, his sleep apnea has completely resolved, he has better balance, is performing wonderfully in school, and no longer suffers from headaches. His genetics workup also showed that he suffers from PTEN Hamartoma Tumor Syndrome, which will require him to have continual yearly monitoring for other medical problems.
“Shawn’s recovery has been extraordinary,” says Dr. Berenstein. “Time will tell, but I expect this to be a permanent fix and I think he’ll continue to do very well.”
Shawn’s mom echoed his assessment, and is grateful, she says, to Dr. Berenstein and his “phenomenal” team of doctors and nurses who cared for Shawn throughout his journey.
Dr. Alejandro Berenstein receives financial compensation as a consultant for MicroVention, the manufacturer of the Precipitating Hydrophobic Injectable Liquid System (PHIL).