Elif YÜKSEL, Müferet ERGÜVEN, Suar ÇAKI, Sema SALTIK, Beril DÖNMEZER

Nörofibromatozis tip 1 hastalarında klinik ve kraniyal manyetik rezonans görüntüleme özellikleri

Bu çalışma nörofibromatozis tip 1(NF-1) hastalarında klinik ve kraniyal MRG bulgularını özellikle nörolojik yönden değerlendirmek, MRG lezyonlannın davranış/bilişsel işlev bozuklukları ile ilişkisini araştırmak amacıyla planladı. Çalışmaya NF-1 tanısıyla izlenen ve kraniyal T2 ağırlıklı MRG'sinde NF-l'e özgü hiperintens lezyonlar (NHL) ve optik gliyom dışında başka bulgusu olmayan 3-19 yaş (ort. 9.7±4.6) arasında toplam 31 hasta alındı. Altı yaş altında Denver II, 6 yaş üstünde porteus ve/veya WISC-R testleri uygulandı. Toplam 46 kraniyal MRG'deki NHL'lerin yerleşimleri, yaygınlıkları incelendi ve bunların davranış/bilişsel işlev bozükluklarıyla ilişkisi araştırıldı. Dört hastada selim seyirli nöbet öyküsü, altı hastada yineleyen başağnsı, altı yaşın üstündeki 22 hastanın %50'sinde davranış/ bilişsel işlev bozukluğu tespit edildi. Toplam 46 MRG değerlendirildiğinde optik gliyom % 16 oranında gözlendi. NHL'ler ise sıklıkla bazal gangliya, beyin sapı, beyincikde gözlenmekteydi. NHL'lerin yerleşimlerinin, yerleşim sayısının ve yaygınlığının davranış/ bilişsel işlev bozuklukları ile ilişkisi bulunmadı. Sonuç olarak, NF-1 hastalarında, davranış/ bilişsel işlev bozukluğu sıkhkla görülebileceğinden, nöropsikolojik değerlendirme mutlaka yapılmalıdır. Bu bozuklukların T2 ağırlıklı MRG'lerde gözlenen NHL'ler dışında başka değişkenlerden de etkilendiği düşünülmektedir.

Clinical and cranial magnetic resonance aspects in patients with neurofibromatosis type 1

In this study, we aimed to evaluate clinical the findings and cranial MRI findings especially in neurological aspect and to search for the relationship between the lesions on MRI and behavior/cognitive disorders in Neurofibromatosis type 1 (NF-1) patients. Thirty-one patients with NF-1 between the ages of 3-19 years (mean 9.7±4.6) who had no other cranial MRI findings except optic gliyoma and NF-1 hyper intense lesions (NHL) on T2 weighted images were included in the study. Denver II test was performed to all patients under 6 years old and WISC-R and/or Porteus test to the patients over 6 years. The locations and extensions of the NHLs in total 46 MRI Were noted and the relationship between these findings and behavior/cognitive disorders were analyzed. Benign seizure history in four, recurrent headache attacks in six patients and behavior/cognitive disorder in % 50 of 22 patients over 6 years old were determined. In evaluated total 46 MRIs, optic gliyoma was in a ratio of % 16. NHLs were sited most frequently in basal ganglia, brain stem and cerebellum. No relation was found between behavior/cognitive disorders and the location, number of locations and extension of NHLs. In conclusion, neuropsychological evaluation should be performed since behavior/cognitive disorders might be seen commonly in NF-1 patients. These disorders could be influenced by other parameters apart from NHLs on T2 weighted MRIs.

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