【摘 要】
：
Neurofibromatosis type Ⅰ(NF-I)is an autosomaldominant inherited disease caused by a mutated NF-Igene on chromosome 17,which produces inactive neuro-fihromin.B
【出 处】
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Chinese Medical Journal
论文部分内容阅读
Neurofibromatosis type Ⅰ(NF-I)is an autosomaldominant inherited disease caused by a mutated NF-Igene on chromosome 17,which produces inactive neuro-fihromin.Besides café-au-lait spots,and multiple skinneurofibromas,which are common symptoms of NF-I,patients with the disease often present with orbitalmeningoencephalocele(protrusion of the brain tissuemeninges into the orbital cavity).To our knowledge,inChina,no patient with such a condition has been treatedsuccessfully.Here we report a case of NF-I combined withorbital meningoencephalocele who survived after surgery.
Neurofibromatosis type I (NF-I) is an autosomaldominant inherited disease caused by a mutated NF-I gene on chromosome 17, which produces inactive neuro-fihin.Besidescafé-au-lait spots, and multiple skinneurofibromas, which are common symptoms of NF- I, patients with the disease often present with orbital meningoencephalocele (protrusion of the brain tissuemeninges into the orbital cavity) .To our knowledge, inChina, no patient with such a condition has been treated successfully.Here we report a case of NF-I combined withorbital meningoencephalocele who survived after surgery.
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