AICARDI–GUTIER SYNDROME IN A PATIENT WITH CEREBRAL PALSY
Abstract
Rare genetic diseases and their symptoms are unusual for doctors, especially if the disease is heterogeneous, and this poses a serious medical problem. There are about 7000 diff erent rare diseases in the world, 80% of them are genetically determined, and more and more newly discovered ones are appearing. Approximately 50% of patients suff ering from rare diseases are children, which determines the importance of studying these diseases in pediatric science. On the example of a clinical case, the manifestations of the Aicardi–Goutieres syndrome in a 17-year-old child admitted to the St. Petersburg State Pediatric Medical University clinic with the main diagnosis: nephrotic syndrome with diff use membranous glomerulonephritis are considered. The main data of history and clinical and laboratory examination are refl ected. The description of mutations leading to the emergence of Aicardi–Goutieres syndrome, as well as the forms of this disease, is presented. Special attention is paid to the diff erential diagnosis of Aicardi–Goutieres syndrome with other clinically similar nosological forms.
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