A Chilean teenager with CLOVES syndrome successfully undergoes scoliosis surgery

Martina was born with a rare disease called CLOVES syndrome, which is characterised by cutaneous lipomatous overgrowths, lymphatic vascular abnormalities and skeletal abnormalities (scoliosis, hip dislocation and tethered cord).

Martina's mother Julia explains that CLOVES syndrome led to Martina developing masses in various parts of her body, bleeding, clots and frequent infections. As a result, she spent a lot of her first few years of life in hospital. At four and a half years old, an immunosuppressive treatment stabilised her vascular issue and she was able to start leading a more normal life, despite her physical limitations.

At ten years old, Martina developed progressive scoliosis, reaching 125 degrees. Her family looked for specialists in Chile who could operate, but all of the medical teams they consulted refused her case due to its complexity and the risks associated with her clotting disorder. As a result, the family decided to seek medical help abroad.

After consulting with another hospital in the United States, the family got in touch with the SJD Barcelona Children's Hospital and forwarded Martina's medical history over. They received a response containing a treatment plan a few days later and decided to travel to Barcelona because the hospital had just the multidisciplinary team they needed—hematologists, dermatologists, traumatologists, neurosurgeons, anesthesiologists (with experience in bleeding and clotting disorders)—who were all ready to take on the risk and carry out their daughter’s operation.

A three-stage procedure

Firstly, Dr José Hinojosa, Head of the Neurosurgery Department, operated on Martina to free her spinal cord, which had adhered to adjacent structures due to a malformation in the end segment of the spinal canal. The aim was to prevent possible complications arising from stretching the spinal cord, which is needed to properly align the spine, without causing any severe issues.

Then, he fitted an orthopedic halo-gravity device to help mobilise the spine, as Martina’s scoliosis was so advanced that her organs were being displaced to the left side of her body. After three months with the halo device, Martina underwent surgery again to correct the scoliosis. The operation was led by Dr Alejandro Peiró, Head of the Pediatric Spinal Surgery Unit, and was a complete success, with the patient making excellent progress since the procedure.

Martina comments that ‘after seeing six different traumatology teams in my country, I thought no-one would be able to operate here either. I couldn't believe that finally I'd have my scoliosis operation. It really was a wow moment! I was so happy. I’m so grateful to the team at this hospital because it was the only one that dared to operate on me.’

Dr Ruben Berrueco, Head of the Hematology Department, noted that Martina’s case was especially complex due to her history of pulmonary thromboembolism in a previous operation. This, alongside her predisposition to thrombosis arising from the malformation itself, meant she needed meticulously managed anti-clotting treatment. On the one hand, it reduces the risk of thrombosis, but on the other hand, it greatly increases the risk of hemorrhage both during and after surgery.

First case of severe scoliosis in a patient with CLOVES syndrome is treated at the SJD Barcelona Children's Hospital

Although the hospital had never before treated a patient with CLOVES syndrome who also had severe scoliosis, physicians were ready to lead the charge in trying to find a solution to treat Martina.

The Vascular Anomalies Unit at the hospital, led by Dr Eulàlia Baselga, has a breadth of experience treating patients with vascular malformations. Dr Baselga notes: ‘Martina's story is also the story of a family that never stopped looking for solutions for her. Their determination has been just as important as the work of our medical team. At the SJD Barcelona Children's Hospital, we boast the combined experience of multiple specialisations to offer a coordinated, compassionate response in even the most complex cases. Seeing Martina’s progress reminds us of the importance of all of the families who are fighting day-in and day-out, as well as reinforcing our commitment to kindness, scientific rigor, respect and hope in healthcare.’

3D planning of the procedure

The specialist scoliosis team at the hospital, led by Dr Peiró, carries out over 200 operations each year. The procedure was planned with a 3D mock-up, and several scenarios were taken into consideration for Martina's operation.

Martina’s mother explains that ‘this operation has undeniably improved my daughter's quality of life. If she hadn't had the operation, her scoliosis would have gotten worse, and she could have suffered respiratory or cardiac failure at any time,’ she confirms. ‘Martina is much better now. With having a rare disease, it’s not just the disease itself, but also society that makes you feel so much more unusual than what you really are.’

Martina and her family have already returned to Chile. Moving forward, they will monitor her disease with a specialist dermatologist in Chile who knows Dr Baselga, and they have agreed on the treatment.

Martina's mother Julia smiles gratefully as she reflects on her experience: ‘At this hospital, every challenge becomes an opportunity. Instead of hurdles, I was met with unconditional medical support and a medical team that never gave up.’