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  • Title: [Neurofibromatosis type 1 in children--with special consideration of ophthalmologic symptoms].
    Author: Kósa E, Csákváry V.
    Journal: Orv Hetil; 2004 Feb 29; 145(9):473-8. PubMed ID: 15077479.
    Abstract:
    PURPOSE: Analysis of neurofibromatosis type I in children with special respect to ophthalmological symptoms. METHODS: It was performed a retrospective review of 18 children in period 1986-2002. The authors analysed the clinical, especially ophthalmological data, and the treatment of ophthalmological signs. RESULTS: The most frequent were the skin symptoms. All of the 18 patients had cafe au lait spots; 4 children had cutane neurofibroma; In 3 patients plexiform neurofibroma were observed. Ocular symptoms were: cutane neurofibroma in the left upper eye lid: 1 case; Lisch nodules in the iris: 5 cases; bilateral optic pathway glioma: 3 cases. One child's bilateral gliomas were inoperable, because of the intracranial progression. One child underwent surgical treatment because of the extreme exophthalmus in the right eye. Her left eye's glioma and the third case bilateral glioma needed only observation because of the loss of clinical signs, and slow progression. Family examinations were also performed: 12 children had signs in the II., III. and IV. generations, there were no symptoms in 6 family, they were new mutations. CONCLUSIONS: The most serious cases had ophthalmological symptoms, namely bilateral visual pathway gliomas that could lead to blindness. The treatment needed individually medical decision.
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