Doctors only know about 200 cases of this disease.
At the end of October, doctors from the Federal Neurosurgical Center in Novosibirsk rescued a 58-year-old man with a rare disease - Gorham-Stout syndrome, which leads to the destruction of bone tissue.
Alexander Tolstikov from the Ordynsky district first had a small dimple on the back of his head, and a little later his occipital bone simply disappeared. In medical science, only 200 cases of such a disease have been described, but not a single case with such a localization - in the occipital bone - has previously been described in the literature.
Alexander Tolstikov from the Ordynsky district of the Novosibirsk region has lived with his "little sore", as he calls it, since about 2013 - he had a small dimple on the back of his head. Then she gradually grew, but Tolstikov did not go to doctors. I did it only when "my head fell on my shoulder."
“I don't know how she came about. There was a small dimple, it got bigger, and then my head rested on my shoulder. He ate while lying down, one might say. I do not wish this to anyone,”Aleksandr Tolstikov told the NGS correspondent.
In June 2018, he turned to a neurosurgical center with complaints of severe pain in the cervical spine, he was also worried that he could not make active movements and just turn his head. It was difficult for doctors to make a diagnosis, because it is an exception diagnosis: you must first carry out various genetic, histological, biochemical studies in order to exclude the spectrum of rare diseases. There was no evidence for anything else, so they put it like this - "Gorham-Stout syndrome."
Vladimir Klimov shows pictures showing the absence of the occipital bone.
Gorham-Stout syndrome is a very rare disease that was first mentioned in 1955. Currently, 200 cases have been described worldwide. It is accompanied by resorption of bone tissue in different parts of the body: it can be any bones, for example, the humerus, femur or pelvic bones. It is extremely rare in the area of the cranial vault, and at the base, as in a patient from the Ordynsky region, it has not been encountered before: we could not find a single described case in the literature.
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The cause of the syndrome is not known. According to one theory, this is a genetic defect. In Tolstikov, this disease was not congenital - it manifested itself after 50 years. Doctors associate this with a violation of vascular permeability: the bone is absorbed, but a new one is not created.
“On the X-ray, we saw the absence of the occipital bone, which occurs after surgery or inflammation such as meningitis, which the patient did not have. And he had a displacement of the second and third vertebrae of the cervical spine: the head does not hold, there is no support,”recalls the medical history of Alexander Tolstikov, neurosurgeon, head of the spinal department of the Federal Center for Neurosurgery, Vladimir Klimov.
So the patient walked for two months to correct the deformity of the spine.
Since there was no description of such a pathology, then the method of treatment too - doctors consulted with colleagues from Russia and doctors from abroad and invented their own. “The problem was that the patient had to first straighten the deformity of the spine so that the head was not on its side, fix it in the correct position so that he could walk straight and look straight. The design usually involves attaching the vertebrae to the occipital bone, but in this case it is not. Therefore, the standard treatment regimen did not fit,”Klimov described the problem.
The neurosurgeons worked in two stages, which took three months. At first, for two months, the patient was given halotraction using a special apparatus - this made it possible to make the spine even. After that, a metal structure was made from an alloy of titanium and nickel with rods, which replaces the occipital bone and connects to the spine. The operation to implant the structure was done by 7 people for 8 hours.
“It was necessary to take into account many points, because the brain and very important parts of the spinal cord were located nearby. And install the structure so that it does not interfere with the patient's life in the future,”explains neurosurgeon Aleksey Evsyukov.
Alexey Evsyukov shows a model that was made using 3D printing.
Since there is no cure for this disease, the task of neurosurgeons was to stop its development. If the operation had not been performed, the deformity would have progressed and as a result could have affected the spinal cord - this could have paralyzed Alexander Tolstikov, the doctors say. As a rule, such patients may die because their respiratory muscles cease to work. After the operation, Tolstikov will continue to be monitored.
“Now I am like a mountain eagle. Many thanks to the doctors. Patched up, that's all. I used to smile and am smiling now,”the patient himself rejoices.