Menkes syndrome, also called curly hair disease, is a rare and very serious genetic disease. It affects young boys and, unfortunately, is not subject to treatment.
Causes of the disease
Menkes syndrome is a consequence of the malfunctioning of the ATP7A gene. As a result of anomalies, the body does not absorb copper, which settles in the kidneys, and all other organs experience its acute deficiency, undergoing rapid destruction. First of all, the heart, brain, bones, arteries and hair suffer. The disease is inherited and is very rare. The risk is about 1 case per 50-100 thousand and applies mainly to men. In female children, the syndrome practically does not occur.
The first symptoms of Menkes syndrome
A child born with this disease in the first weeks of life looks and behaves absolutely normal. And only by the third month do symptoms appear that indicate that the baby is developing Menkes syndrome:
- There is not much curly hair in the place of the fallen infant fluff. They are very rare and light. A closer look shows that the hair is very brittle and intertwined. They look confusing. Hair is also intertwined on the eyebrows.
- The skin has an unnatural pallor.
- The baby's face is quite plump.
- The nose is flat.
- Lowered temperature.
- Feeding a baby becomes problematic. The appetite is practically absent. In addition, there are deviations in the intestines.
- The kid is passive, drowsy and lethargic, his face shows almost no emotion. All signs of apathy appear.
- Infants often suffer cramps.
- The child significantly lags behind his peers in development and ceases to do even what he has already learned.
Diagnosis of the syndrome
It should be noted that many rare diseases are difficult to diagnose. One reason for this is the poor awareness of pediatric doctors. In the case of Menkes syndrome, the pediatrician can alert the unusual appearance of the baby's hair. An indicative symptom of the disease are convulsions that periodically appear in the child.
Many of the above symptoms occur in other, much less dangerous, diseases. Therefore, having discovered them in your child, you should not panic. But it is necessary to examine it. The main types of diagnosis of Menkes syndrome are a blood test for the level of copper and x-ray of bones in it, which can show their characteristic changes.
Disease prevention
Unfortunately, medicine has not yet come up with methods for preventing Menkes syndrome. At risk are male babies who have had relatives with the disease. It is almost impossible to determine the disease at an early stage of embryo development and even more so to prevent it. Naturally, some women ask themselves the question of whether it is possible to plan a pregnancy with Menkes syndrome in the family of the husband. The answer can be given only by a good geneticist who will analyze the pros and cons, conduct diagnostics, draw a “genetic tree” and only then he will state the degree of risk. It is advisable to decide on the planning of offspring only after consulting with specialists.
Treatment for Curly Hair Disease
Unfortunately, Menkes syndrome is an incurable disease. His forecast is very difficult. The disease progresses rapidly, causing irreversible changes in the body. In addition to mental retardation, which almost always accompanies the syndrome, the development of the nervous system is inhibited, cardiac activity is disturbed, and the structure of bone tissue changes.
Life with Menkes syndrome is short. Most babies die two to three years after birth. Often this happens suddenly - against a background of general stability - from pneumonia, infections, or rupture of blood vessels.
And although medicine does not know the methods of treatment as such, there are methods to alleviate the condition of the patient. This is an artificial supply of copper to the body, which is administered intravenously. Such therapy somewhat inhibits the development of the disease and partially eliminates the symptoms. But only on condition of its timely start, namely, from the first days or in the extreme case of weeks of life (until irreversible changes in the brain have occurred). Which, alas, is almost unrealistic - after all, the symptomatic picture appears only months to three. In other cases, doctors can offer only supportive therapy.
Very rarely, but it happens that Menkes syndrome occurs in a mild form. This type of disease is called the occipital horns syndrome and is characterized by the destruction of connective tissues. Patients with such a diagnosis in mental development are not far behind, but the outcome is still deplorable. Only, the disease begins to develop much later: at about ten years of age.