Congenital pseudarthrosis of the leg bones and autistic spectrum disorder in a patient with neurofibromatosis type 1

Abstract

The article presents an analysis of the pathogenesis of neurofibromatosis type 1, the mechanism of damage to the central nervous system. It analyzes the general clinical symptoms of neurofibromatosis type 1, its diagnostic criteria, describes the specifics of cognitive development in this disease with an emphasis on behavioral and autism spectrum disorders. The authors describe a clinical case of neurofibromatosis type 1 (a boy, 6 years and 10 months), in which, along with coffee-colored skin spots, subcutaneous fibromas, one of the first symptoms of the disease was also a congenital false joint of the bones of the left leg. Absence of speech development and autism spectrum disorders are key problems in the cognitive status of the child.