Neurofibromatosis in children: symptoms, diagnosis, treatment

Neurofibromatosis is a hereditary disease characterized by the appearance of tumors. As a rule, most of them are of a benign nature. Tumors can be localized on the skin, in the brain or spinal cord, nerves and other organs. Treatment involves the surgical removal of neoplasms and subsequent monitoring of complications. It is often enough to diagnose neurofibromatosis in children. Symptoms in each case may vary somewhat. However, doctors identify a whole group of clinical signs characteristic of this disease. About them and the main methods of treatment of this ailment in young patients, we will tell in this article.

Description of the disease

Neurofibromatosis is a genetic disease that is inherited. It is characterized by the development of the defects of the brain / spinal cord, skin, some internal organs, as well as the nervous system.

The disease of neurofibromatosis is manifested by the formation of tumors. When neoplasms increase in size, they can infringe upon vital organs, thereby provoking the development of accompanying health problems.

Neurofibromas (tumors), as a rule, appear in childhood, or rather during puberty. The first clinical signs are pigmented spots. They are not accompanied by pain or itching. Pigmented spots can be localized absolutely in any part of the body, including in the armpits and inguinal zone.

According to experts, most neurofibromas are of a benign nature, only 5% of them are subjected to malignancy, that is malignant degeneration. However, even benign formations often carry a danger to the body. The thing is that over time they increase in size, disrupting the normal functioning of some internal organs.

Neurofibromatosis in children can be accompanied by anomalies of bone tissue. The severity of the ailment varies from mild to extremely severe, and the latter entails a disability.

Causes

Why does neurofibromatosis develop? The causes of this disease, according to experts, lie in 50% of cases in the hereditary predisposition. To be more precise, it is the genetic factor that affects some cells of the nervous system (lemocytes, melanocytes, endonevral fibroblasts). This disease manifests itself in the form of numerous tumors, which take the form of pigment spots, subcutaneous cones. In some cases, there may be problems with the skeleton. Such disorders in the body affect the spinal nerves.

In the case of a genetic factor, the disease develops regardless of the type of inherited defective gene. For example, if one of the parents has a damaged gene, in half the cases, children can inherit this ailment. It is important to note that the degree of manifestation of the disease directly depends on the level of expression of the genes themselves.

On the other hand, a random factor, that is, a spontaneous mutation, often causes the pathology. Scientists continue to actively study the mechanisms of the onset of such a disease, as neurofibromatosis. The causes of the appearance of the disease from the point of view of spontaneous mutation are almost impossible to explain today.

It is important to note that the disease is diagnosed identically both among men and among women. That is why it is difficult to attribute it to gender.

Neurofibromatosis in children occurs solely because of the genetic nature, since spontaneous mutation is only an acquired pathology in older patients.

Classification

Currently, the disease as a whole is conditionally divided into 6 forms:

• Recklinghausen's disease (type 1 neurofibromatosis) is diagnosed in 90% of cases. This form is characterized by the development of benign neoplasms, pigment spots on the skin, bone anomalies and changes in the iris of the eye.
• Neurofibromatosis type 2 is very similar in clinical manifestations to the first type, however skin defects are not so noticeable. In this case, the disease manifests itself in the form of multiple neurinas of the brain and spinal cord, as well as the auditory nerve. Tumors of the central nervous system, as a rule, are formed in the interval between 20 and 30 years of life.
• The third type is characterized by a large number of neurofibres, which in some cases cause glioma of the optic nerve and meningioma.
• The fourth type is otherwise called segmental, since in this case pathology affects the skin locally.
• The fifth type is distinguished by the absence of nodular neoplasms, but by the presence of pigmented spots of coffee tint.
• Disease of the sixth type is diagnosed in patients after the age of 20, but in this case the genetic factor does not play a special role.

It is important to note that in young patients only two forms of the disease are possible: type 1 neurofibromatosis and type 2 neurofibromatosis.

Symptoms

According to experts, about a third of patients for a long time may not even suspect about the presence of the disease. Most often, the ailment is diagnosed during the next preventive examination. Doctors note the presence of small nodules under the skin.

The second third of the patients discover the disease of neurofibromatosis when there are any disorders of the neurological nature.

Many learn about their diagnosis only after visiting the beautician. Pigmented spots appear on the face, back and extremities. It is this clinical sign, as a rule, that serves as an excuse for referring to a specialist.

It is important to note that neurofibromatosis in children is somewhat different. Symptoms most often are already from the first days of life. Here we are talking, first of all, about the numerous pigment spots on the skin. In adolescence, small tumors of different size and shape are found. Such a neurofibre may be only a few or more than a hundred. Some patients experience changes in the skeleton (scoliosis, hip deformities, skull bones defects in the eye area).

It is important to note that tumors can spread to any nerve in the body, but mostly appear from the cells of the nerve roots. In this case, they do not cause any serious violations. If the tumors act directly on the spinal cord, there is a serious danger to the patient's health.

Recruitinghausen's neurofibromatosis (type 1) is usually manifested at an earlier age. This disease is characterized by the formation of pigmented spots of light brown hue. It is noteworthy that they can also occur in perfectly healthy children. In the presence of more than five such spots on a body with a diameter of 5 mm or more, a diagnostic examination should be carried out to eliminate the disease, such as Recklinghausen's neurofibromatosis.

The second type of ailment is most often diagnosed already in adolescence. It is characterized by the formation of tumors that damage the auditory nerve. In addition, patients have epileptic seizures, ringing in the ears, headaches and vestibular disorders.

Diagnostics

First of all, a medical examination is required to confirm this disease, since obvious clinical signs make it possible to make an accurate diagnosis. However, in some cases, an additional examination is required. The physician should take into account the above types of neurofibromatosis for the final diagnosis.

Recklinghausen's disease is confirmed if the patient has at least two of the signs listed below:

• Nodes of Lisha.
• Pigmented spots of a brown shade of a certain amount and size.
• Specific anomalies of bones.
• Two or more neurofibromas.
• Hyperpigmentation in the armpit / inguinal zone.
• The presence of disease in close relatives.

For a more detailed study of the existing neoplasms, the doctor usually appoints MRI, X-ray and CT. An X-ray is necessary to detect possible abnormalities in the human bone apparatus.

Diagnosis of the disease of the second type implies an audiogram. This is a special study by which the severity of the patient's hearing is assessed.

Regardless of the type of disease, everyone, without exception, is recommended the so-called analysis on neurofibromatosis. It implies the most common genetic testing, including prenatal testing. The latter option is an analysis of amniotic fluid or chorionic villi.

When and what should I call a doctor

First of all, it should be noted that several specialists are engaged in the treatment of this disease most of the time. A neurologist observes a small patient from childhood, and then other doctors join. As already noted above, neurofibromatosis is a hereditary disease that is associated with the mutation of certain chromosomes. Therefore, doctors can not offer radical treatment at present. In the case of fast-flowing disease, there is a need for surgical treatment if neurofibromas are localized on internal organs. On the shoulders of neurosurgeons, as a rule, responsibility for tumor nodes, which are also removed, falls.

What should be the treatment

Modern medicine can not offer radical methods for the treatment of this disease. That's why doctors, as a rule, prescribe symptomatic therapy. It implies the intake of certain groups of drugs ("Ketotifen", "Fenkarol", "Tigazon") to restore metabolic processes in the body and reduce the manifestation of clinical signs of such a disease as neurofibromatosis.

Treatment is appointed exclusively by the doctor and individually, taking into account specific manifestations of the disease. When prescribing therapy, the results of genetic analysis, the conclusions of an orthopedist, an ophthalmologist and an oncologist are also taken into account.

Often, surgical intervention is also required. It is important to note that it is extremely rare to remove all tumor nodes due to the high prevalence of the process. In some cases, a skin transplant is additionally required . The main indications for surgical intervention are the following: severe pain in the affected area, ulceration of nodes, malignancy, disruption of vital organs. For cosmetic purposes, surgery is extremely rare, as it increases the likelihood of aggravating neurofibromatosis. Treatment with folk remedies is unacceptable.

Today, a large number of cases of development of this disease are known, as a result of which other diseases developed. That's why it's so important not to leave the problem without attention.

Possible complications

As already noted above, children's neurofibromatosis should not be left out. Treatment should be timely and qualified. Otherwise, the probability of developing serious problems that affect the intellectual and physical health of a small patient, its quality of life is very high. Specialists identify the following possible complications:

• Arterial hypertension.
• Seizures (observed in 40% of cases in children with the first type of disease).
• Deafness.
• Speech disorders.
• Scoliosis.
• Visual impairment.
• Delayed sexual development.

Neurofibromatosis in children, the symptoms of which have been described above, require mandatory medical follow-up, prevention of complications. If necessary, the doctor can recommend rehabilitation measures.

Hearing loss in neurofibromatosis of the second type is considered an indication for the installation of a special auditory implant. This device continuously broadcasts audio signals to the brain, allows the child to perceive sounds and recognize speech.

Prevention

Unfortunately, doctors currently can not offer effective measures to prevent this disease. The thing is that the causes of its origin have not been finally determined. Specialists only recommend constantly monitoring the health of the child, regularly take him to medical examinations.

When should alert neurofibromatosis

In children, the symptoms are primarily manifested in the form of light brown spots on the skin. If your child has these symptoms, it is extremely important to consult a specialist so that he or she can eliminate this diagnosis.

If neurofibromatosis has already been confirmed, it is necessary to constantly monitor the condition of a small patient, the formation of tumors. When increasing the latter, it is recommended that you also seek qualified help.

The most important thing in this matter is to discover the disease as soon as possible. According to statistical data, about 60% of children with this diagnosis have relatively mild signs of the disease. Moreover, many do not need special treatment.

Thus, it becomes clear that before the time you should not be afraid of such a disease as neurofibromatosis in children. Photos of small patients clearly demonstrate that you can live with such pathology. Of course, in children with more serious forms of the disease, complications often occur. However, if there is constant support and support, they can lead a very productive, and most importantly, a happy life.