Symptoms and signs, treatment of tuberous sclerosis
What is Tuberous Sclerosis?
Tuberous sclerosis is a dominantly inherited genetic disease in which tumors affect various organs.
In children with tuberous sclerosis, tumors of many organs are noted. If one of the parents has tuberous sclerosis, the risk for the child is 50%. New mutations, however, form a large part of new cases. TC can affect the heart, eyes, lungs and skin.
Many diseases of the bones and connective tissue, especially those with lesions of the lower limbs, are a consequence of the pronounced changes that occur in the growing musculoskeletal system of the child. These diseases can result in recovery or worsening with continued growth. Other diseases of the bones and connective tissue may be hereditary or acquired.
Symptoms and signs of tuberous sclerosis
Children with tuberous sclerosis can have epilepsy, mental retardation, autism, impaired learning, or behavioral problems.In children of the first years of life, the disease can manifest itself as a type of seizures, which is called infantile spasms. Many children have the following symptoms of tuberous sclerosis: kidney tumors, usually angiomyolipomas, which can cause hypertension and polycystic kidney disease. Kidney carcinoma can also develop. Some children have rhabdomyomas of the heart. Hump-like growths in the substance of the brain and tumors, usually astrocytomas, may be present. Spots on the retina are often found as signs of disease.
Skin changes include initially pale, ashy leaf spots that appear in the first year of life or at an early age; angiofibromas of the face, which appear at an older age; congenital spots of Shagren; subcutaneous nodules; spots of coffee color with milk; subungual fibromas that can appear in children of any age and in young people.
Diagnosis of the disease
Heart disease or intracranial changes can be detected with prenatal ultrasound. Spots on the retina may be noticeable with fundoscopy. An MRI or ultrasound scan of the affected organs is needed to confirm the diagnosis. It is possible to conduct a specific genetic diagnosis.
Prognosis and treatment of tuberous sclerosis
The prognosis depends on the severity of the symptoms. Children of the first year of life with mild symptoms tend to feel well and lead long productive lives, while children with more severe symptoms may have more serious disabling effects. Regardless of the severity, most of the children continue to develop. Sometimes neurological degeneration may develop, which requires examination.
Treatment of tuberous sclerosis is symptomatic and may include anticonvulsant drugs or even neurosurgery for convulsions. Skin lesions can be removed by dermabrasion or laser techniques. For the correction of neurological and behavioral problems and hypertension caused by kidney damage, medications can be used in the treatment, and surgery to remove growing tumors. Consultation genetics is shown to adolescents and adults of childbearing age.
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