UNASSIGNED: A 12-year-old boy presented with vision loss, headache and dizziness at our hospital. Magnetic resonance imaging (MRI) revealed a large (19.8 mm*18.5 mm*23.5 mm) irregular mass located in the suprasellar region. The mass was successfully removed after craniotomy and microsurgical treatment. The pathological diagnosis was left optic nerve HGB. Genetic analyses showed p.Pro86Leu (c. 257C>T) heterozygous missense mutations in the VHL gene.
UNASSIGNED: This is the first reported pediatric case of VHL-associated optic nerve HGB. The genotype-phenotype correlation of VHL disease may provide new evidences for predicting tumor penetrance and survival. Gross tumor resection combined with stereotactic radiosurgery might be the most beneficial treatment.
■一个12岁的男孩出现视力丧失,我们医院的头痛和头晕。磁共振成像(MRI)显示位于鞍上区域的大(19.8mm*18.5mm*23.5mm)不规则肿块。在开颅手术和显微外科治疗后,肿块被成功切除。病理诊断为左视神经HGB。遗传分析显示p.Pro86Leu(c。257C>T)VHL基因中的杂合错义突变。
■这是第一例VHL相关视神经HGB的儿科病例。VHL疾病的基因型-表型相关性可能为预测肿瘤外显率和生存率提供新的依据。大体肿瘤切除联合立体定向放射外科可能是最有益的治疗方法。