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Single example of a tuberozny sclerosis and diagnostic criteria
Authors: Lepessova M.M., Fedyanina Y.A., Akhmetova D.A.
Number of views: 420
Difficulties in the diagnosis of tuberous sclerosis complex associated with the polymorphism of clinical manifestations specific to this disease. We presented the article on the example of clinical case raised an important question about the diagnostic criteria for tuberous sclerosis complex, required for correct clinical diagnosis, and modern views on the subject. We present the definition of new data on the mechanisms of pathogenesis of tuberous sclerosis and major mutations in genes TSC1 and the TSC2, localized in the chromosomes 9 and 16, respectively, underlying the disease. Dysfunction of genes TSC1 and TSC2 leads to morphological changes of neurons and neurotransmitter disorders, which are also described in the article. We also examined the functions of proteins and hamartintuberin, as part of the natural antitumor systems. Here are described the controversial issues of the reliability criteria of tuberous sclerosis complex given the variety of clinical manifestations. It is noted that the classical triad of signs in the form of seizures, mental retardation, and «adenoma sebaceum», is today considered obsolete. It was revealed that diagnosis of epilepsy, mental retardation and autism should not be exhibited as major diagnosis and related diagnosis. For clarity, the clinical signs of tuberous sclerosis complex presented in the form of a table. There was presented clinical case of the patient Т., five-year-old boy with a diagnosis of tuberous sclerosis complex. There was displayed the data history, somatic and neurological status, indicating the considered nosology. It was carried out a genetic screening and identified family history of tuberous sclerosis in the family. This article contains information instrumental methods (electroencephalography, echocardiography, computed tomography and magnetic resonance imaging of the brain). It has been clearly presented morphological changes in the brain in the form of cortical Tuber on the example of magnetic resonance imaging, patient T. In conclusion, summarizes the clinical and diagnostic criteria to establish a definite diagnosis of tuberous sclerosis.