一例合并枕部动静脉畸形和脊柱侧弯的神经纤维瘤病NF1基因突变分析

Mutation analysis in a case of neurofibromatosis type 1 complicated by occipital arteriovenous malformation and scoliosis

患者女,15岁。因全身多发咖啡斑15年、脊柱侧弯1年余就诊。1年前因枕部动静脉畸形手术切除肿物。皮肤科检查:全身散在多个大小不等咖啡斑,最大约3 cm×4 cm,腋窝、腹股沟雀斑。全外显子测序显示,患者NF1基因第26号外显子发生碱基T杂合缺失(c.3328delT)移码突变。患者父母及弟弟均未发现该突变。诊断:神经纤维瘤病Ⅰ型合并枕部动静脉畸形和脊柱侧弯。

A 15-year-old female patient presented with multiple café-au-lait spots all over the body for 15 years and scoliosis for more than 1 year.One year prior to the presentation,the patient underwent tumor resection due to occipital arteriovenous malformation.Skin examination showed multiple scattered café-au-lait spots of various sizes all over the body with the largest café-au-lait spot measuring about 3 cm×4 cm,and freckles on the axillae and groins.Whole exome sequencing revealed a frameshift mutation due to a heterozygous one-base deletion(c.3328delT)in exon 26 of the NF1 gene in the patient,which was not identified in the patient′parents and her younger brother.The patient was diagnosed with neurofibromatosis type 1 complicated by occipital arteriovenous malformation and scoliosis.