Nörofibromatozis tip 1 tanılı hastalarda nöroradyolojik bulguların kognitif fonksiyonlara etkisi

Abstract

Purpose: The aim of this study was to evaluate the clinical and radiological findings of children with Neurofibromatosis Type 1 (NF1), and to investigate the factors affecting cognitive functions.\xa0 Materials and Methods: Fifty-one patients who were diagnosed as NF1 in the Pediatric Neurology Clinic of Cukurova University Medical School were included in this study. Age, sex distribution, presence of family history, presence of parental consanguinity, intelligence tests, learning disabilities, presence of motor retardation, presence of autism, presence of attention deficit and hyperactivity disorder presence of behavior disorder, neuroimaging findings, seizure histories, and number of antiepileptic drugs used were evaluated retrospectively. Results: Of the patients, 27 (50.9%) were female and 26 (49.1%) were male. Twenty-seven (50.9%) were hereditary, 26 (49.1%) were sporadic, while 8 (29.6%) of the hereditary patients were from the mother and 19 (70.4%) were from the father. A statistically significant relationship was found between the presence of T2 hyperintensity in cerebral magnetic resonance imaging (MRI) and female gender, presence of macrocephaly and mental retardation. Additionally, an important relationship was established between the presence of autism, and attention deficit hyperactivity disorder and mental retardation. Conclusion: Although a relationship between clinical and radiological findings have been found, there are associations waiting to be clarified in patients with NF1 who are not included in the diagnostic criteria, such as macrocephaly.