Neurofibromatosis in children: types, causes, symptoms, treatment
What is neurofibromatosis? This is the name given to a group of diseases with similar clinical manifestations. The cause of neurofibromatosis is mutations in certain genes. It is believed that in half of the cases they are inherited from the parents, and in others they are caused by new mutations (De Novo). Such changes occur in germ cells or embryos. Neurofibromatosis is an autosomal dominant disorder. This means that a genetic defect can be inherited from each parent. At the same time, the severity of the parents' condition does not affect the form of the disorder in the child.
Types and stages of neurofibromatosis
The main types of neurofibromatosis:
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Neurofibromatosis type I (von Recklinghausen's disease). It affects the skin and soft tissues (pigmented spots, neurofibromas), bones (dysplasia). With neurofibromatosis, the spots have the color of coffee with milk (so-called coffee spots).
- Neurofibromatosis type II. Characteristic signs are pigment spots, one- or two-sided neurinoma of the auditory (VIII pair of cranial) nerves, neurofibroma, glioma, meningioma, schwannoma.
- Schwannomatosis or type III neurofibromatosis. Characteristic development of two or more schwannomas in peripheral nerves.
Neurofibromatosis tumors are peripheral and central. The first develop along the course of the peripheral nerves. Neurofibromas consist of Schwann, nerve and mast cells.
Central tumors come in several forms:
- gliomas developing in children younger than five years old;
- neurinomas of the auditory nerve causing dizziness, deafness, tinnitus;
- meningiomas.
Stages of neurofibromatosis:
- initial - the appearance of spots on the back and limbs;
- stage of bone changes - deformation of bone tissue occurs;
- stage of tumors - the appearance of neurofibromas, gliomas;
- stage of organic changes - violation of functions of neighboring organs.
Treatment of neurofibromatosis
Symptoms of neurofibromatosis type I appear at birth or develop in the first months of life. Characteristic skin lesions are freckle-like or "coffee" spots, which are most often located on the trunk, in the folds of the knees, elbows. Later, skin tumors appear. Neurological signs of the disease depend on the location of neurofibromas. Bone changes are expressed in the form of dysplasia, scoliosis (read more about the causes of scoliosis on our website Dobrobut.com), false joint, absence of the large wing of the sphenoid bone with subsequent pulsating exophthalmos. Children with neurofibromatosis may develop juvenile myelomonocytic leukemia. Malignant tumors occur rarely, but more often than in the general population.
Treatment of neurofibromatosis is reduced to surgical removal of tumors (if possible) and chemotherapy. Treatment of optical gliomas, transformed into malignant ones, is carried out with the help of radiation therapy or chemotherapy.
The prognosis of the disease is relatively favorable. In most cases, the symptoms of neurofibromatosis are mild, and patients lead normal lives. In some patients diagnosed with neurofibromatosis type I, cosmetic defects cause psychological problems. With type II neurofibromatosis, damage to the cranial nerves and brain stem is possible, which is life-threatening. Many patients suffering from schwannomatosis experience pain.
If one of the parents has a diagnosis of neurofibromatosis, the risk of transmitting the disease to children is 50%, so genetic counseling is advisable before planning a pregnancy.
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