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Abstract

NF-1 that is a type of neurofibromatosis (NF) frequently encountered in children. It is autosomal dominant and primarily affects the growth of neural tissue cells. Celiac disease (CD) is an autoimmune disorder in which a permanent intolerance to gluten is acquired after initial exposures to gluten containing products. A 6 year old female presented complaining of spots on her skin. On physical examination, ten café au lait spots (CAL) on her skin throughout her body, and bilateral axillary freckles were identified. Lisch nodules were identified on ophthalmic examination,; hamartomatous structures were identified in MRI scans of her brain. The patient’s anti-gliadin panel and anti-endomysium antibody A test results were positive (+++). Endoscopic biopsy was performed and the specimens were determined to have mucosal degeneration with a stage IV MARSH score. The patient was then diagnosed with CD and NF. As far as we know, there are no reports in the literature of Celiac’s Disease and Neurofibromatosis occurring together in a child, and this is the first reported case

Keywords

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BİR ÇOCUK HASTADA NÖROFİBROMATOZİS VE ÇÖLYAK HASTALIĞI

Öz

Nörofibromatozisin (NF) daha çok çocuklarda görülen tipi olan NF-1; otozomal dominant geçen ve primer olarak nöral dokunun hücresel büyümesini etkileyen bir hastalıktır. Çölyak hastalığı (ÇH) ise; gluten içeren gıdalarla tetiklenen ve glutene karşı kalıcı bir intoleransın geliştiği otoimmün bir hastalıktır. Yaklaşık 6,5 yaşındaki kız hasta, cildindeki lekeler nedeniyle getirildi. Muayenesinde; cildinde en büyüğü 8x4,5 cm olan on adet cafe au lait lekelesi (CAL) ile bilateral aksiller çillenme tespit edildi. Oftalmik muayenesinde; iriste Lisch nodülleri, beyin manyetik rezonans görüntülemesinde (MRG) ise; hamartomatöz yapılar vardı. Yaklaşık 1,5 yıl sonra başlayan karın ağrısı nedeniyle yapılan tetkiklerinde; anti gliadin paneli; pozitif ve anti endomisyum antikoru A; pozitif (+++) olarak saptandı. Endoskopik biyopsi materyalinin değerlendirmesiyle mukozada MARSH skoru stage IV olan bir dejenerasyon saptandı. Bunun üzerine hasta ÇH ve NF tanıları ile takibe alındı. Bu yazıda NF-1 ve ÇH’yi birlikte taşıyan bir çocuk vaka sunulmuştur ki bizim bilgilerimize göre bu vaka; literatürde rapor edilen ilk çocuk vakadır.

Anahtar Kelimeler

• Çocuk, Çölyak, Nörofibromatozis

Kaynakça

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