Nörofibromatozis tip 1 tanılı hastaların nörokognitif fonksiyonlarının değerlendirilmesi

Objective: The aim of our study is to examine clinical, demographic and radiological features of patients diagnosed with Neurofibromatosis type 1 and to investigate the relationship between these findings and cognitive functions. Method: This study was conducted retrospectively by including 63 patients aged 3-18 years who were followed up with the diagnosis of Neurofibromatosis type 1 between January 2015 and December 2020 in Istanbul Medical Faculty, Department of Pediatric Neurology. Clinical features, demographic daya of patients, anthropometric measurements, neurological examination and imaging findings were obtained from database records and patient follow up file. The relationship between the clinical and MR imaging findings of patients and their IQ level, neurodevelopmental diagnoses and academic achievements were investigated. Results: Of the patients, 53,9% were girls, 46% were boys, the mean age was 10,9±4,3 and the age range was 2,8-18,7. Family history was observed in %44 and sporadic occurence in 55%. Among the diagnostic criteria, CALL was found in all 63 patients, axillary freckling in 85,7%, inguinal freckling in 73%, cutaneous/subcutaneous neurofibroma in 39,6%, plexiform neurofibroma in 19%, Lisch nodules in 61,9%, optic tract glioma in 25,4% and skeleteal displasia in 31,7%. T2-hyperintensity lesions were observed in 73,6% of the cranial MRI scans.T2H was most common in the basal ganglia with a rate of 56,1%, followed by the brain stem and cerebellum with a frequency of 50,9% in both. T2H was seen with a frequency of 42,1% in cerebrum, 35,1% in the thalamus, 15,8% in the corpus callosum, 12,3% in the hypocampus/amygdala and 8,8% in the capsula interna. When the relationship of localization of these lesions with neurocognitive functions was examined, no significant correlation was found with neurodevelopmental diagnosis such as attention deficits, specific learning disability or mental retardation. However, success was found to be significantly lower in patients with T2H, T2H in the cerebrum and T2H in the thalamus compared to those without these lesions. The IQ level was significantly lower only in patients with cerebellum involvement compared to those without. There was no significant correlation between involvement in other localizations and IQ level. Conclusion: Cognitive impairment has been widely reported in children with NF1. The effect of T2H lesions on cognitive functions remains unknown. We suggest by clarifying the etiopathogenesis of cognitive impairment, early diagnosis and treatment options can be revealed and the negative impact of this disease on social and academic life can be reduced.