Menkes syndrome: description and diagnosis

The syndrome of Menkes, which is also called the disease of curly hair, is a rare and very serious genetic disease. It affects small boys and, unfortunately, can not be cured.

Causes of the disease

The syndrome of Menkes 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 approximately 1 case for 50-100 thousand and extends 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 there are symptoms that indicate that the baby develops Menkes syndrome:

• Curly hair in place of the fallen infant fluff a little. They are very rare and bright. Upon closer examination, it can be seen that the hair is very brittle and intertwined. They look confused. The hair and the eyebrows are also intertwined.
• The skin has an unnatural pallor.
• The face of the baby is plump enough.
• The nose is flat.
• The temperature is lowered.
• Feeding a child becomes problematic. Appetite is practically absent. In addition, there are abnormalities in the work of the intestine.
• The kid is passive, sleepy and sluggish, his face shows almost no emotion. Appear all the signs of apathy.
• The baby often suffers cramps.
• The child lags behind in development from his peers 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 of the reasons for this is poor awareness of children's doctors. In the case of Menkes syndrome, a pediatrician can alert an unusual kind of baby's hair. An indicative symptom of the disease are convulsions, which periodically appear in the child.

Many of the above symptoms occur in other, much less dangerous, diseases. Therefore, after discovering them from 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 to the level of the presence in it of copper and X-rays of bones, which can show their characteristic changes.

Prevention of disease

Unfortunately, medicine has not yet come up with methods for the prevention of Menkes syndrome. In the risk zone, there are male infants who have relatives with such a disease. Determine the disease at an early stage of development of the embryo and even more so to prevent it is almost impossible. Naturally, some women ask themselves the question, and whether it is possible to plan pregnancy in the syndrome Menkesa in the family of her husband? The answer to it can be given only by a good geneticist who will analyze all the pros and cons, conduct diagnostics, draw a "genetic tree" and only then voice the degree of risk. It is advisable to make a decision on planning offspring only after consulting with specialists.

Treatment of Curly Hair Disease

Unfortunately, Menkes syndrome is an incurable disease. The prognosis is very difficult for him. The disease is rapidly progressing, 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 disrupted, and the structure of bone tissue changes.

Life with Menkes syndrome is short. Most children die two or three years after birth. Often this happens suddenly - against a background of general stability - from pneumonia, infections or rupture of blood vessels.

And although there are no methods of treatment as such, medicine does not know, there are methods of alleviating 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 and partially eliminates symptoms. But only on condition of its timely beginning, namely - from the first days or in the last resort of weeks of life (until irreversible changes in the brain have come). Which, alas, is almost unrealistic - after all, the symptomatic picture appears only months to three. In other cases, doctors can offer only supportive therapy.

It is very rare, but it happens that Menkes syndrome is mild. This type of disease is called the syndrome of the occipital horns and is characterized by the destruction of connective tissues. Patients with such a diagnosis in mental development do not lag behind, but the outcome is still deplorable. Only, the disease begins to develop much later: at about the age of ten.