Mother of child with rare syndrome discovers ‘forgotten’ screw in her daughter’s skull two years after surgery

A mother from Sorocaba (SP) discovered a “lost screw” in her daughter’s skull, aged two years and seven months, during a visit to the hospital after the child fell at home. She claims that the screw was forgotten after surgery using distractors in the baby’s skull.

The procedure was carried out in Campinas (SP) in 2021. The hospital says it provided all assistance from searching for the mother to find out why she forgot the object.

Alice de Almeida Mariano is diagnosed with Pfeiffer Syndrome, a rare genetic disease that causes malformations of the skull bones and affects one in every 100,000 newborns.

At the time, the syndrome caused craniostenosis and, as a result, she needed surgery costing R$100,000. Thanks to an online fundraiser, the family reached their goal in just three months of fundraising. Alice is also diagnosed with grade 2 autism.

Alice is diagnosed with a rare syndrome and also with grade 2 autism — Photo: Personal archive

According to her mother, a medical report states that Alice runs no health risks with the screw in her skull. She says that, after removing the distractors placed to correct the malformation of the skull bones, her daughter’s life continued uneventfully, until the little girl suffered a fall at home and went to the hospital.

“I took her to the doctor, I asked the doctor accompanying her to do the tests to make sure everything was ok. She hurt her little arm, so everything was fine with her, she didn’t break her little arm or anything, but then during the X-ray examination she discovered that she had this screw.”

Examination showed the exact location of the screw — Photo: Reproduction

After finding out about the screw, Lady took her daughter to the hospital in Campinas where she had undergone surgery to understand what had happened. According to the mother, the doctor informed that the object was close to the skin and that removal would be simple during surgery.

Days later, the family returned to the city to carry out the procedure but, according to the mother, after 30 minutes in the surgical center, the doctor said that the object would be embedded in the skull bone, and not on the skin and, therefore, , a longer procedure would be required. Due to the risks of the surgery, the mother chose not to continue with the procedure.

Lady informed that the hospital paid for a 3D computed tomography exam with bone reconstruction to locate the screw in the bone, carried out at a hospital in Sorocaba (SP).

After a consultation with a doctor in Londrina (PR), a report was issued saying that, at this moment, the object poses no risk to the baby. The family will travel annually to the hospital, in Paraná, to check the situation.

Currently, Alice is in therapy and the family is trying to raise money for a new surgery to treat vesicoureteral reflux.

“[Ela] He’s always struggling because he already has a lot of health problems. First it was the little head, then thank God we operated. Then we discovered autism, then there was a renal scar on the kidney. Thank God, we do it through campaigns and we are winning. Her life is a life of medical care”, concludes the mother.

What does the hospital say

In a note, the Sobrapar hospital, in Campinas (SP), where Alice underwent posterior skull distraction surgery, made itself available to the family and reported that it treated her on November 8 of this year after a head trauma.

“[Ela] She was taken to an emergency room in Sorocaba, where she underwent an x-ray and tomography of the brain. The x-ray examination showed the presence of a titanium skull fixation screw, with no signs of fracture. The brain tomography examination resulted in a normal report,” she informed.

“Examining the patient on November 10, 2023, it was detected that the screw could be close to the skin and it was suggested that the patient be admitted for careful examination. Thus, if the screw was actually close to the skin, it could be removed, avoiding a new CT scan. The examination was carried out in a surgical center environment with sedation performed by an experienced pediatric anesthetist in children with rare syndromes, but it was not possible to locate the screw. No surgery was performed on the child. The child was discharged from the hospital on the same day,” he added.

R$100,000 in three months

When Alice was still five months old, the family started a campaign to raise R$100,000 for surgery using distractors. The amount was raised in three months.

At the time, Lady explained to g1 that the syndrome caused craniostenosis, a disease that, according to her, damages the skull and can cause the child to have serious consequences, such as loss of hearing, vision and developmental delays. Therefore, the treatment is very expensive and the family received donations to cover the costs.

To carry out the surgery in Campinas, the family needed R$82,000, an amount that had already been raised through campaigns and with the help of a city councilor. Furthermore, another R$18,000 was raised during a charity event in Sorocaba for post-operative care.

Alice’s surgery was a success, according to Lady — Photo: Personal archive

Pfeiffer syndrome

Pediatrician and clinical geneticist Marta Wey Vieira explained to g1, at the time, that Pfeiffer Syndrome causes the early closure of some sutures in the newborn’s skull, called coronal sutures.

“This causes the shape of the skull to be different from normal, often already observed in the womb by ultrasound or, in the neonatal period. As a result of this abnormal shape of the skull, breathing disorders, ocular, otological and neurological disorders can occur”, he explains.

Wey also said that treatment for the syndrome is multidisciplinary, symptomatic and corrective, depending on the extent of the disease’s manifestations.