Follicular Thyroid Cancer With Ocular Metastasis in a Patient With a Pathogenic Germline Variant in the Checkpoint Kinase 2 (CHEK2) Gene

Abstract

A very young child in the first few years of life presented with an asymptomatic right neck mass. Neck ultrasound showed heterogeneous enlargement of the right thyroid lobe, and fine-needle aspiration biopsy diagnosed the mass as benign; the patient was biochemically euthyroid. She underwent right hemithyroidectomy, and the pathology was reported as multinodular goiter with lymphocytic thyroiditis (Figure A-C). Two years later, she was found to have significant left-eye visual loss with photophobia.