Mysterious disease eating self-flesh

Examining Matthew's hand, Dr. Esterly was surprised to find that some of the burns had disappeared. When the boy shouted and put his hand in his mouth, Esterly realized he had eaten his fingers and part of his lips . It is the case of Lesch-Nyhan - also known as the carnivorous disease itself - first discovered.

The boy eats himself

On September 1, 1962, Deborah Morlen appeared in the emergency room of Johns Hopkins Hospital, Baltimore (USA) with her 4-year-old son Matthew. The boy could not walk or sit down - a manifestation of cerebral palsy and developmental delay.

Morlen told Nancy Esterly, the pediatrician, that her son's urine was unusually colored and had a hotel in his diaper. Knowing that his brother was also suffering from cerebral palsy and developmental delay, Esterly only dared to guess that this was a genetic disease without any additional notion of disease.

Closer examination of Matthew's urine, Esterly discovered it contained a lot of glass-like crystals, fibrous. These crystals are quite sharp and certainly it scratches his urinary tract. Given that urine may contain too much uric acid, Esterly brought the sample to Dr. William Nyhan, a pediatric oncologist, for him to test. The results showed that Matthew's urine had too much uric acid , which causes gout symptoms in older men.

Janek (left) - a child with Lesch-Nyhan syndrome, born in January 2004 in Berlin, Germany.(Photo: Lesch-nyhan.de).

When they returned to Matthew, the doctors were surprised to see that he was still awake but could not speak clearly, there were many new scars and cuts around his mouth. When he examined the boy's hand, Esterly was shocked to discover that some of his knuckles had disappeared. Matthew then shouted, putting his hand in his mouth and Esterly quickly realized that the boy had eaten his fingers and even part of his lips.

Two years after meeting Matthew, Nyhan and Lesch published the first book about Lesch-Nyhan syndrome - also known as self-eating syndrome.

Acts like being possessed by demons

In addition to the first and easily recognizable appearance of strange colored urine, crystal glass , people with Lesch-Nyhan syndrome often hurt themselves, even eat their flesh like biting their lips and tongue and chewing their fingers. Many patients chew their own tongue. The bigger the child, the more likely it is that the child has this syndrome, including pulling out his eye pupils or attacking it with a sharp object. It seems that they are controlled by a demon, always looking for ways to hurt patients.

Psychologist Dr. HAJinah at Johns Hopkins Hospital (USA) - who studied Lesch-Nyhan syndrome for more than a decade - said: "This is a terrible disease. It contains a neurological problem same complexity ".

Lesch-Nyhan patient often shows signs of attacking the person he loves the most, does not control his behavior and even says the opposite of what he wants to say. They looked normal until they suddenly put their hands in their mouths to bite. They are still aware of what they do, feel the pain, fear with the thought of fingers and lips being eaten and often cry out for help. But it seems that hands and mouth are not under their control.

Many scientists believe that Lesch-Nyhan is the opposite of Parkinson's . If people with Parkinson's disease are often unable to do what they want, then the person with Lesch-Nyhan cannot stop himself from doing things they don't want.

Pathological causes

Doctors have not fully understood this mysterious disease after several decades of finding it.

Doctors have not fully understood this mysterious disease after several decades of finding it. In 1967, Edwin Seegmiller - a scientist at the National Institutes of Health - and two colleagues discovered that the HPRT protein in Lesch-Nyhan patient cells that has DNA regeneration effects seems to be inactive.

Cells often divide DNA into four basic groups , adenine, thymine, cytosine and guanine. This process helps to produce purines - substances used to generate new code in DNA. When HPRT is inactive, certain purines are formed in human cells and transformed into uric acid themselves.

In the 1980s, scientists Douglas J. Jolly and Theodore Friedmann, of the University of California (USA) discovered that every Lesch-Nyhan patient had a separate gene mutation , which happened randomly in each family. In most cases, this mutation only includes a minor error in gene coding.

HPRT gene is found in the X chromosome. A woman with a Lesch-Nyhan mutation in an X chromosome is not ill. However, her son has 50% of the chance of getting sick and girls have 50% of the ability to carry mutated genes.

Until now, scientists have not found a cure for this disease. In April 2000, neurosurgeon Takaomi Taira of Tokyo Women's Medical University (Japan) performed brain surgery to perform "deep brain stimulation" for a Lesch-Nyhan patient. They put thin wires into the cracks of the skull, leading to the basal ganglia, connecting to the implant battery under the skin of the patient's chest. This battery provides a low-intensity current to the pale sphere, paralyzing some pea-sized points. In this way, patients do not bite themselves.

However, this is just the initial progress, there will still be a lot of research to be able to cure this terrible disease.