Ocular findings in a child with multiple endocrine neoplasia type 2b

Abstract

A 16-year-old girl was admitted with severe bilateral conjunctival hyperemia and stinging lasting for more than 1 year. Slit-lamp biomicroscopic examination revealed extremely thickened corneal nerves and multiple small plexiform subconjunctival neuromas. Both eyes had thickened upper and lower eyelids and a neuroma was found on the left upper conjunctival lid margin. On physical examination, a 2 x 3 cm nodule was detected within the thyroid gland. Medullary thyroid carcinoma was diagnosed by fine needle aspiration biopsy and thyroidectomy ensued. Further investigation with abdominal computed tomography revealed a pheochromocytoma (3 x 4.5 x 2 cm) of the right adrenal gland, which was removed surgically. Ophthalmologists must remember multiple endocrine neoplasia 2b in the presence of greatly thickened corneal nerves and subconjunctival neuroma because this may be the first sign of the disease. Early diagnosis and prophylactic thyroidectomy may be life saving.