Abstract：
A 4-year-old boy with a known diagnosis of neurofibromatosis 1 (NF1) and a diffusely infiltrative plexiform neurofibroma (PN) of the left orbit was started on selumetinib treatment for progressively worsening amblyopia. The patient first presented with new-onset left ptosis at 11 months old. He subsequently developed refractory anisometropic amblyopia of the left eye, in addition to clinically significant left proptosis and hypoglobus that interfered with glasses wear for his amblyopia treatment. The plexiform neurofibroma was not amenable to surgical resection and selumetinib treatment was initiated 3 years after the initial diagnosis. The patient showed remarkable clinical and radiographic improvement in tumor burden after treatment. Best corrected visual acuity improved from 20/50 to 20/20- in his amblyopic eye. Relative proptosis of the affected eye also improved from 4mm to 2mm on Hertel measurements, which allowed for consistent glasses wear. Adverse effects from the treatment were limited to an acneiform rash, which resolved following dose reduction according to the FDA dosing guidelines.
摘要：
一个已知诊断为神经纤维瘤病1（NF1）和左眼眶弥漫性浸润性丛状神经纤维瘤（PN）的4岁男孩开始接受司米替尼治疗，以逐渐恶化的弱视。该患者在11个月大时首次出现新发左下垂。他随后发展为难治性左眼屈光参差性弱视，除了临床上显着的左眼球突出和下血球干扰眼镜佩戴用于他的弱视治疗。丛状神经纤维瘤不适合手术切除，并且在初始诊断后3年开始使用司美替尼治疗。治疗后，患者的临床和影像学表现出显着的肿瘤负荷改善。弱视眼的最佳矫正视力从20/50提高到20/20-。在Hertel测量中，受影响的眼睛的相对倾斜度也从4mm提高到2mm。这允许一致的眼镜佩戴。治疗的不良反应仅限于痤疮样皮疹，根据FDA给药指南，剂量减少后解决。
