Extremely rare condition makes a 23-year-old look 13: ‘Only those who know me know my age’ – 06/10/2023 – Health

Luiz Augusto Márcio Marques, 23, better known as Guto, had a normal childhood, until he was 7 years old, in Passo Fundo (RS).

From then on, he started having severe headaches and, after a crisis, he was diagnosed with craniopharyngioma, a rare and very aggressive tumor in the brain, which affects only one in every 1 million people.

At the age of 8, Guto had to undergo surgery to remove part of the tumor. But the procedure was risky — he could stop talking, seeing, walking or, ultimately, stunting his growth.

And that’s exactly what happened. In a very rare condition, the boy stopped aging in appearance when he was around 12 years old.

To BBC News Brasil, Guto tells that he always went to the doctor with severe headaches, but none could diagnose him correctly.

“The pain started to affect me at school, I couldn’t study and some doctors said I had a psychological problem, laziness; others said it was just a virus”, he says.

As a child, Guto was diagnosed with a craniopharyngioma after suffering a seizure and being treated at the city hospital. “Then they told my aunt that it was risky, but either I operated or I died in a few days”, he reports.

In the human brain there is a liquid (liquor), which is manufactured in the middle of the organ and absorbed outside the brain every 8 hours. In Guto’s case, the cerebrospinal fluid was not changed and the accumulation put pressure on the region, causing a lot of pain.

Even so, for the boy, the most difficult part of facing this situation came after the surgery, with isolation. “I was locked in a glass room so they could do a general follow-up and see if I wasn’t going to have seizures, if I was going to be able to speak, see and move my legs”, recalls the young man.

At the end of the exams, apparently, everything was normal. However, the removal of the tumor reached the hypophysis, an essential gland located in the lower part of the brain, responsible, among other functions, for producing the growth hormone.

“They did many exams and saw that I was going to stop growing, but they didn’t know exactly when. I could stop growing at 8, 9 or 10 years old. Then I stopped growing at 12”, explains the young man.

Tumor the size of a bean

Doctors removed only 20% of the tumor, as much as they could to avoid affecting other brain areas. Then, Guto had to undergo two more surgeries.

“In the first, a catheter was placed that took the liquid from the brain and went to the abdomen (called ventriculoperitoneal shunt or DVP); and, in the second, a catheter that went inside the tumor cyst to a subcutaneous reservoir in the head, through which the chemotherapy was injected”, details the neurosurgeon responsible for the operation, Nério Azambuja Jr.

According to Guto, the chemotherapies were very long and intense. “At first, I did it three times a week, then it went down to two, then once a month, until I stopped. But I suffered a lot, because the catheter hurt too much, they put big injections inside it, so imagine”, he vents. the young.

At the time, there was the possibility of inducing growth hormone, but the chance of the tumor growing together was imminent, so he chose not to pursue that possibility.

As a teenager, upon realizing that his appearance had stagnated, the boy faced another difficult process: that of acceptance.

“When I was about 15 years old, I ended up getting angry, I didn’t talk to anyone, I didn’t leave the room for recess, I didn’t even answer the teacher and then they kept calling my aunt at school”, he recalls.

As time went by, Guto became more accepting of his youthful appearance and, with the support of his family, he now leads a peaceful life with his aunt and cousin.

“Without my family, I wouldn’t have been able to overcome it. I know people who have cancer and give up everything”, he ponders.

“Today I don’t care about anyone else. I’m friends with the elderly, with people in their 20s, 30s, 40s, and they don’t judge me, they don’t say anything to me. Here, everyone knows me, they call me to fix my cell phone , television. And nowadays I’m doing very well, I talk a lot and I’m not ashamed of anything anymore”, says the young man from Rio Grande do Sul, who dreams of being a photographer and hopes to buy his professional camera soon.

In all, there were 15 years of treatment, seven of chemotherapy and 12 head surgeries. Even so, the tumor was not 100% eliminated. Guto stopped undergoing chemotherapy in 2015 and, since then, he has been living with a tumor the size of a bean grain, but without headaches.

CSF build-up and headaches

Currently, Guto measures 1.62 m, weighs about 50 kg and appears to be no more than 13 years old. On the left side of the brain, it continues to use a valve to drain the liquor.

Azambuja, the neurosurgeon responsible for the surgery, points out that the growth hormone inducer stopped working, because it was in exactly the same region of the tumor that was removed.

“Guto has a brain tumor in a very complex region of the brain next to the pituitary gland, where the body’s hormones are controlled. And this tumor grew and obstructed the passage of CSF”, details the specialist, who is also coordinator of the Residency in Neurosurgery at the Federal University of Fronteira Sul (UFFS).

According to Azambuja, liquor, whose function is to provide a protective barrier for the central nervous system, ended up being concentrated in the middle of the brain. “This accumulation of liquor we call hydrocephalus, and when this hydrocephalus used up the space in the brain, the boy started to have a lot of vomiting, headache and was in an acute state of urgency”, he says.

It is worth mentioning that most patients do not suffer changes in growth hormone. “They usually show other signs that are not those of Guto. In general, there are multiple hormonal alterations”, stresses Azambuja.

Surgical treatment

Craniopharyngioma is a rare type of brain tumor that affects the region of the central nervous system, mainly the pituitary, but can also affect other parts of the brain and impair the proper functioning of the organism.

Among the most common symptoms are headaches, difficulty seeing, sleeping, hormonal disruption, weight gain, diabetes, growth problems, among others.

The treatment of craniopharyngioma is surgical, and then radiotherapy, chemotherapy, brachytherapy or hormonal drugs can be used as a complement. The tumor has no cure, but following medical recommendations, it is possible to have a good quality of life.

“This type of tumor does not manifest itself only in childhood, sometimes it can appear at 50 or 60 years of age and, until then, the patient leads a normal life”, comments Azambuja.

It is also important to stress the importance of seeing a doctor when persistent symptoms appear, as early diagnosis reduces treatment complications and prevents the evolution of the condition, which can lead to death, if not treated in time.

Today, according to the neurosurgeon, thanks to advances in medicine, after conventional surgery it is possible to perform radiosurgery – a precise procedure with radiation exactly on the rest of the tumor.

In Guto’s case, a catheter had to be placed in his head.

“This case is different, because he had a cyst next to the tumor, and as radiotherapy works more in the tumor, we placed a catheter (which is in the subcutaneous layer of the skin) inside the cyst in the tumor, where the medication was injected by the team of oncology. That was the chemotherapy he was doing, not the one done in a vein”, explains the neurosurgeon.

The doctor points out that the craniopharyngioma does not usually leave a sequel to the growth hormone. “Guto’s specific manifestation is very rare, it must be one case for every 50 million or something like that, because there are no exact statistics”, he says.

Guto will always look much younger than his age. Your skin, hair distribution, among other details, will always be different from other people who produce hormones regularly.