Advance with MUSC Health

Life-Changing Surgery for a Toddler in Chronic Pain Due to Rare Pineal Cyst

Kat Hendrix, Ph.D.
January 21, 2022
Kayla and daughter Sophie on the beach.

What do you do for a child who won’t stop crying? As Kayla and Derek Fernandez discovered, sometimes brain surgery is the answer. A few weeks after their four-year-old Sophie was diagnosed with febrile seizures, six-month-old Giuliana also began showing signs of epilepsy. “Her eyes would roll back, and her pupils were extremely dilated,” said Kayla. “Derek was on the road a lot since he’d started working as a truck driver, after his job as a chef disappeared in COVID. So, I took a video and sent it to him and some other family members. But everyone said it was probably nothing.”

Kayla tried not to worry. After all, the doctor had assured them Sophie would outgrow her seizures. They thought Giuliana might be going through the same thing. But a week later, she slammed her forehead on the jumper-seat tray several times in a row. “When I laid her on her back, it kept happening, but it just looked like she was doing a crunch,” said Kayla. Her head-dropping episodes continued over the next few weeks, and Kayla became alarmed. “I found a description of infantile spasms online that sounded exactly like what she was doing. It said they could be deadly, and I panicked! We went straight to the emergency room.”

Giuliana’s electroencephalogram (EEG) showed seizure activity, and they were immediately referred to the nearest children’s hospital in Houston, an hour from their home in Magnolia, Texas. “We stayed for five days while they did a series of EEGs. Then, they just sent us home,” said Kayla. “They told us her tests were inconclusive. She was having preseizure activity that didn’t progress to full-blown seizures. They said it was like smoke without a fire, but they put her on anti-seizure medications.” Guiliana also had a magnetic resonance imaging (MRI) study that found nothing of concern.

At home, Derek’s parents moved closer to help Kayla care for the girls. “Giuli had these head-dropping things up to 100 times a day. She was exhausted by it, but she couldn’t sleep. She cried all the time and would grab her head and arch her back in pain,” said Kayla. “She was never happy – never.”

By the spring, they decided to wean Giuliana off the seizure medications because they had not helped her head-dropping or pain. “She just screamed and held her head a lot. She’d trip and fall if it happened when she was walking. She had big goose eggs on her head all the time. She’d drop her head in her food at dinner. It was a nightmare,” said Kayla.

In September, Giuliana’s neurologist ordered a second MRI and saw a pineal cyst, deep in the center of her brain. “He called us the next day and said we needed to find a surgeon,” Kayla recounted. But after consulting with multiple pediatric neurosurgeons around Houston, they still had no answers. “We went to two different children’s hospitals and saw specialists in three different medical groups,” said Kayla. “Every one of them said there was no way the pineal cyst was causing this. I’d ask, ‘How do you know that?’, and they’d say they just knew. But they also didn’t have another answer.”

After a year of hearing their child cry in constant pain, they were desperate to help Giuliana. One day, Kayla saw a Facebook post mentioning the high success rates that Sunil Patel, M.D., a neurosurgeon at the Medical University of South Carolina (MUSC), had had in treating pineal cysts in adults. “It scared us to think what it would cost to go out of state, but we called anyway,” said Kayla. “His office referred us to Dr. Infinger in pediatrics, and we got a video consultation right away. She told us Giuli’s cyst was visible on her first MRI and was probably causing her symptoms. She said it could also cause even more problems, like hydrocephalus, in the future.”

While pineal cysts are typically benign, Giuliana’s was an exception, said Libby Infinger, M.D., a pediatric neurosurgeon at MUSC Children’s Health. “We often find incidental pineal cysts on MRI, and the majority don’t cause any symptoms – but there was clearly something very wrong here. Giuliana’s cyst was compressing the brain structures around it. So I recommended removing it.”

The Fernandez family prepared to make the trip from Texas to South Carolina. “My in-laws drove their big RV with Sophie, and we flew in with Giuli. We really needed their support. She wasn’t even two years old, and she was having brain surgery. Plus, we could all drive home together. We didn’t want to put her back on a plane afterward.”

The family did not know that MUSC was one of the first children’s hospitals in the country to acquire a revolutionary surgical technology called the Synaptive Exoscope. “The Exoscope is a fantastic tool,” said Infinger. “We can do procedures much faster and with less tissue trauma because there’s a smaller incision. It’s also more efficient because the entire team can see what you’re doing on a big screen, so they can anticipate what you’ll need.”

In addition, because the MUSC team has used this new technology longer, they are highly skilled. “It’s a rare operation because you don’t usually need to remove pineal cysts. Not everyone is trained in how to approach these excisions because they’re deep in the center of the brain. It’s a fairly risky procedure,” said Infinger.

Giuliana’s surgery went smoothly and took about four hours to complete. “It’s tough seeing your kid with all the IV lines, in a hospital bed, but they’re so resilient,” said Kayla. “She was eating fruit loops almost as soon as she woke up, and by day three, she was running around the room.” Giuliana was discharged within a week, and the Fernandez family set out on their drive back to Texas.

With her incision now healed, Giuliana has made a full recovery. “She’s a completely different child,” said Kayla. “We haven’t seen a single head drop or pain episode since the surgery. Best of all, she’s sleeping through the night and even takes naps during the day. Her whole demeanor – the way she laughs and smiles, the way she plays. It’s just amazing. Before, she didn’t even touch her toys because she felt too bad to play. It makes me sick to my stomach that she was so miserable for so long.”

Since Sophie has not had any more febrile seizures since turning five, the whole Fernandez family is getting a new start. “We’re hoping this is the year we can just live a normal life like a family,” said Kayla. “If we hadn’t found Dr. Infinger, we’d still be going from one specialist to another, looking for answers. I hate to think how many other parents might be out there looking for answers like we had to. We’re just so grateful for everyone who helped us at MUSC. It’s like they gave us a whole new child.”