Neurofibromatosis Type I: A Descriptive Analysis of the Disorder and MRI Findings: 23 Patients

Abstract

Neurofibromatosis type 1 NF1 is a relatively common autosomal dominant genetic disorder with variable clinical manifestations We present a descriptive analysis of data with special emphasis on MRI findings on 23 patients examined in our child neurology unit between January 1994 and December 1997 All patients included in this study had NF1 as defined by the National Institutes of Health Consensus Conference in 1987 The most common clinical manifestations are six or more cafe au lait spots 100 freckling in the axillary or inguinal region 47 8 Lisch nodules 34 8 Cranial MRI scans were normal in 9 children 39 1 revealed increased T2 weighted signals located primarily in the cerebellar white matter in 11 47 8 children brainstem in 11 47 8 and followed by basal ganglia in 9 39 1 of them Optic gliomas were seen in 2 of the children Better knowledge of the natural history of NF1 may help improve our ability to predict the likelihood of complications of patients Key words: Neurofibromatosis Type 1 Magnetic Resonance Imaging

Keywords

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Nörofibromatozis Tip 1 de Klinik ve Nöroradyolojik Bulgular: 23 Olgu

Öz

Bu çalışmada Ocak 1994 Aralık 1997 yılları arasında nörofibromatozis tip 1 NF1 tanısı alan ve kranial magnetik rezonans görüntülemeleri olan 23 olgu sunulmuştur NF1 tanısı 1987 de National Institutes of Health Consensus Conference de tanımlanan kriterlere göre konuldu Olgularda en sık rastlanılan klinik bulgular sırası ile; kafeole lekeleri 100 çillenme 47 8 ve Lisch nodülleri 34 8 idi İki olguda optik gliom saptandı Bunlardan birinde ayrıca astrositom da mevcuttu NF1 de kranial magnetik rezonans görüntülemede rastlanan diğer bir bulgu T2 de signal artışıdır Bu bulguya serimizde 14 olguda 60 9 rastlandı en sık yerleşim serebellar beyaz madde 47 8 beyin sapı 47 8 ve bazal ganglionlar 39 1 idi Farklı yaşlarda değişik bulgularla karşımıza çıkan NF1 li hastaların düzgün aralıklarla izlenmesi gereklidir Anahtar kelimeler: Nörofibromatosis Tip 1 Manyetik Rezonans Görüntüleme Optik Gliom

Anahtar Kelimeler

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