Nörofibromatozis tip 1 tanılı hastalarda nöroradyolojik bulguların kognitif fonksiyonlara etkisi

Amaç: Bu çalışmada, Nörofibromatozis Tip 1 (NF1) tanısıyla takip edilen çocukların klinik ve radyolojik bulgularının değerlendirilmesi, kognitif fonksiyonlara etki eden faktörlerin araştırılması amaçlandı. Gereç ve Yöntem: Bu çalışmaya 2 Çukurova Üniversitesi Tıp Fakültesi Çocuk Nöroloji Polikliniğinde NF1 tanısı alan, en az 1 yıllık izlemi olan 53 hasta alındı. Hastaların yaşı, cinsiyet dağılımı, aile öyküsü varlığı, anne-baba arasında akrabalık varlığı, zeka testleri, öğrenme güçlüğü, motor gerilik varlığı, otizm varlığı, dikkat eksikliği ve hiperaktivite bozukluğu varlığı, davranış bozukluğu varlığı, nörogörüntüleme bulguları, nöbet öyküleri, kullandığı antiepileptik ilaç sayıları açısından retrospektif olarak değerlendirildi.Bulgular: Hastaların 27’si (%50.9) kız, 26’sı (%49.1) erkekti. Yirmiyedisi (%50.9) herediter, 26’sı (%49.1) sporadik geçişliyken, herediter olanların 8’i (%29.6) anneden, 19’u (%70.4) babadan geçişli idi. Serebral manyetik rezonans görüntülemede (MRG) T2 hiperintensitesi varlığı ile hastaların kız cinsiyette olması, makrosefali varlığı ve mental retardasyon varlığı arasında istatistiksel olarak anlamlı bir ilişki saptandı. Ayrıca otizm varlığı ve dikkat eksikliği hiperaktivite bozukluğu ile mental retardasyon arasında önemli bir ilişki saptandı.Sonuç: Klinik ve radyolojik olarak bazı bulgular arasında ilişki varlığı saptansa da oluş mekanizmaları bilinmemekle birlikte, makrosefali gibi tanı kriterleri içinde yer almayan ancak NF1’li hastalarda aydınlatılmayı bekleyen birliktelikler mevcuttur.

Anahtar Kelimeler:

Nörofibromatozis Tip 1, mental retardasyon, kognitif fonksiyon, makrosefali, otizm

Effect of neuroradiological findings on cognitive functions in patients with neurofibromatosis type 1

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. Materials and Methods: Fifty-one patients who were diagnosed as NF1 in the Pediatric Neurology Clinic of Çukurova 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.

Keywords:

Neurofibromatosis Type 1, mental retardation, cognitive function, macrocephaly, autism,

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