Menkes syndrome, also called curly hair disease, is a rare and very serious genetic disorder. It affects little boys and, unfortunately, there is no cure.
Causes of disease
Menkes syndrome is a consequence of the malfunctioning of the ATP7A gene. As a result of the anomaly, the body does not absorb copper, which is deposited in the kidneys, and all other organs experience its acute deficiency, undergoing rapid destruction. First of all, the heart, brain, bones, arteries and hair are affected. The disease is inherited and is very rare. The risk is approximately 1 case in 50-100 thousand and applies mainly to men. In female children, the syndrome practically does not occur.
First symptoms of Menkes syndrome
A baby born with this disease looks and behaves absolutely normal in the first weeks of life. And only by the third month, symptoms appear that indicate that the baby is developing Menkes syndrome:
- There is little curly hair in place of the fallen baby fluff. They are very rare and light. Upon closer inspection, it is seenthat the hair is very brittle and intertwined. They look confused. The hairs on the eyebrows are also intertwined.
- Skin has an unnatural pallor.
- The baby's face is quite plump.
- The bridge of the nose is flat.
- Temperature lowered.
- Feeding the baby becomes problematic. Appetite is practically absent. In addition, there are deviations in the work of the intestines.
- The baby is passive, sleepy and lethargic, his face shows almost no emotion. All signs of apathy appear.
- Baby often suffer from convulsions.
- The child noticeably lags behind his peers in development and stops doing even what he has already learned.
Diagnosis of the syndrome
It should be noted that many rare diseases are difficult to diagnose. One of the reasons for this is the poor awareness of pediatricians. In the case of Menkes syndrome, the pediatrician may be alerted by 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, when you find them in your child, you should not panic. But it is a must to explore it. The main types of diagnosis of Menkes syndrome are a blood test for the level of presence of copper in it and an X-ray of the bones, 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 infants who had relatives with this disease. It is almost impossible to determine the disease at an early stage of development of the embryo, 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 her husband? The answer to it can only be given by a good geneticist, who will analyze all the pros and cons, carry out diagnostics, draw a “genetic tree” and only then announce the degree of risk. It is advisable to make a decision about planning offspring only after consulting with specialists.
Cure curly hair disease
Unfortunately, Menkes syndrome is an incurable disease. His prognosis 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 children die two or three years after birth. Often it happens suddenly - against the 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 patient's condition. This is an artificial supply of the body with copper, which is administered intravenously. Such therapy somewhat restrains the development of the disease andpartially eliminates the symptoms. But only under the condition of its timely start, namely, from the first days or, in extreme cases, weeks of life (until irreversible changes in the brain occur). Which, alas, is almost unrealistic - after all, the symptomatic picture appears only by three months. In other cases, doctors can only offer supportive care.
Very rarely, but it happens that Menkes syndrome occurs in a mild form. This type of disease is called occipital horn syndrome and is characterized by the destruction of connective tissues. Patients with such a diagnosis do not lag behind in mental development, but the outcome is still deplorable. The only thing is that the disease begins to develop much later: at about the age of ten.
