Diagnosis and treatment of neurofibromatosis

Diagnosis and treatment of neurofibromatosis

Neurofibromatosis

 

 

Neurofibromatosis is a hereditary disease with an autosomal-pre-dominant type of inheritance, which marks the formation of tumors along the nerves, and sometimes the result is a pronounced deformation of soft tissues and bones. The diagnosis is clinical. Specific treatment does not exist, but the tumor can be removed surgically.

 

There are 2 forms of neurofibroma. Type 1 occurs in most cases, causing neurological, skin and sometimes orthopedic manifestations. Type 2 occurs in 10% of cases, manifested primarily as a congenital bilateral neuroma of the auditory nerve.

 

Neurofibromas are benign tumors of Schwann cells and neurofibroblasts. Peripheral neurofibromas appear anywhere along the peripheral nerves. Most of them appear during adolescence. There are 4 types of neurofibromas.Skin neurofibromas are soft and have a solid color; subcutaneous neurofibromas are dense and nodular. Nodular plexiform neurofibromas can affect the roots of spinal nerves, usually grow through the intervertebral foramen, forming tumor masses inside and outside the spinal canal. The intraspinal part can compress the spinal cord. Diffuse plexiform neurofibromas can be disfiguring and cause disruption of innervation distal to the tumor. Plexiform neurofibromas can malignise. There are 2 types of central neurofibromas: visual gliomas, which can cause progressive loss of vision, neuroma of the auditory nerve, which can cause dizziness, ataxia, hearing loss, and tinnitus. Optic nerve gliomas develop in type 1 neurofibromatosis, while auditory nerve neuromas develop in type 2 neurofibromatosis.

 

At 1 sttypeNeurofibromatosis In most patients, an asymptomatic course is observed, the disease is detected during routine examination, examination for cosmetic complaints or during examination due to the presence of a similar disease in relatives. In some, the disease is manifested by neurological symptoms or bone disorders.In more than 90% of patients, characteristic skin lesions are present from birth or appear in the first year of life. Skin lesions are light brown, freckle-like spots, located most often on the trunk and flexural surfaces of the elbows and knees. In older children, skin-colored tumors of a bodily color of various sizes and shapes appear, ranging in size from a few to thousands. Plexiform neuromas rarely appear, forming unevenly thickened, curved structures with grotesque deformations.

 

Neurological symptoms vary, but are associated with the location and number of neurofibromas. Skeletal abnormalities include fibrous dysplasia, subperiosteal bone cysts, vertebrae impressions, scoliosis, thinning of the cortical plate of long bones, pseudoarthrosis and absence of a larger wing of the sphenoid bone, followed by pulsating exophthalmos. Optical glioma and Lisha nodules are found in some patients. Some children have learning problems and slightly larger head sizes.

 

2nd type.In type 2, bilateral neuromas of the auditory nerve develop and manifest clinically in childhood or at a young age.Clinical manifestations include hearing loss and instability, as well as sometimes headache or weakness of facial muscles. Bilateral tumor masses of the 8th pair of cranial nerves may be noted. The patient’s family members may have gliomas, meningiomas or schwannomas.

 

Neurofibromatosis - diagnosis and treatment

 

 

The diagnosis is clinical. CT or MRI can reveal tumor masses of the 8th pair of cranial nerves in the 2nd type; MRI can show focal density changes in type 1. Genetic screening is not widely available.

 

There is no general treatment. Neurofibromas that cause severe symptoms may require surgical removal or radiation, although there may be a decrease or absence of function of the affected nerve after surgery. Consultation genetics desirable. If one of the parents has neurofibromatitis, the risk for the next child is 50%; if none of the parents are sick, the risk for the next child is unclear, since new mutations often occur.



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