LATEST DIAGNOSIS OF NEUROPHYBROMATOSIS I TYPE IN 14-YEAR-OLD BOY

• Main Authors: D. I. Sadykova, L. Z. Safina, R. A. Kadyrmetov
• Format: Article
• Language: Russian
• Published: Ltd. “The National Academy of Pediatric Science and Innovation” 2017-09-01
• Series: Rossijskij Vestnik Perinatologii i Pediatrii
• Subjects: children; phakomatosis; neurofibromatosis i type; mental retardation; spots "coffee with milk"; magnetic resonance imaging
• Online Access: https://www.ped-perinatology.ru/jour/article/view/531

The article presents modern views on the problem of hereditary progressive pathology: phakomatosis, including neurofibromatosis as the most common in the population of the neurocutaneous syndrome. The main clinical manifestations, diagnostic criteria  for neurofibromatosis type I, are considered. Presented clinical case shows the later diagnosis of neurofibromatosis a child 14 years  of age with mental retardation. It shows that this issue is highly relevant, socially significant and requires further study. The above  observation makes us pay attention to the necessity of continuity of medical support by doctors of various specialties of this contingent  of patients.