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Congenital pseudarthrosis of the leg bones and autistic spectrum disorder in a patient with neurofibromatosis type 1
https://doi.org/10.21508/1027-4065-2023-68-6-105-111
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.
Keywords
children,
neurofibromatosis type 1,
von Recklinghausen’s disease,
NF1,
nervous system damage,
developmental disorder
Supporting agencies: This work was supported by the Kazan Federal University Strategic Academic Leadership Program (PRIORITY-2030)
About the Authors
R. G. Gamirova
Kazan (Volga Region) Federal University
Russian Federation
Russian Federation
Kazan
K. R. Zabirova
Kazan (Volga Region) Federal University
Russian Federation
Russian Federation
Kazan
A. R. Safina
Kazan (Volga Region) Federal University
Russian Federation
Russian Federation
Kazan
E. A. Gorobets
Kazan (Volga Region) Federal University
Russian Federation
Russian Federation
Kazan
S. Ya. Volgina
Kazan State Medical University
Russian Federation
Russian Federation
Kazan
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Review
For citations:
Gamirova R.G., Zabirova K.R., Safina A.R., Gorobets E.A., Volgina S.Ya. Congenital pseudarthrosis of the leg bones and autistic spectrum disorder in a patient with neurofibromatosis type 1. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2023;68(6):105-111. (In Russ.) https://doi.org/10.21508/1027-4065-2023-68-6-105-111
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