Ocular signs of multiple endocrine neoplasia type 2B (MEN2B)
| Autor: | Jonathan Hyer, Haziq Chowdhury, Richard Lee, Masoud Teimory |
|---|---|
| Rok vydání: | 2012 |
| Předmět: |
medicine.medical_specialty
genetic structures Adolescent Endocrinology Diabetes and Metabolism Clinical Biochemistry Multiple Endocrine Neoplasia Type 2a Eye Biochemistry Endocrinology Ptosis Internal medicine Cornea Ophthalmology medicine Humans In patient business.industry Biochemistry (medical) Medullary thyroid cancer Nodule (medicine) medicine.disease eye diseases medicine.anatomical_structure Tears Dry Eye Syndromes Female sense organs Eyelid medicine.symptom business Multiple endocrine neoplasia type 2b |
| Zdroj: | The Journal of clinical endocrinology and metabolism. 97(3) |
| ISSN: | 1945-7197 |
| Popis: | A 16-yr-old female was referred to the ophthalmic clinic with intermittent severe, red, dry, and itchy eyes since childhood. Uncorrected visual acuity was 6/9 in both eyes. Slit lamp examination showed significant bilateral blepharitis, eyelid thickening, and a right upper lid nodule (Fig. 1). Several similar smaller lesions were also noted on both lower lids. Conjunctival neuromas similar in appearance to follicular conjunctivitis were present, which could be mistaken for giant papillary conjunctivitis and treated inappropriately with steroids. Prominent limbal nodules of the left eye were noted (Fig. 2). The cornea showed marked prominence of corneal nerves but was otherwise clear (Fig. 3). Anterior chamber examination was deep and quiet in both eyes. Intraocular pressures were 15 and 16 mm Hg in right and left eyes, respectively. Dilated fundal examination was normal. The inability of children with multiple endocrine neoplasia type 2B (MEN2B) to cry tears is an important clinical symptom for early diagnosis preceding the development of metastatic medullary thyroid cancer (1). Other ocular signs develop during childhood. Prominent corneal nerves are observed in all cases reported in the literature; eyelid neuromas, lid margin eversion or thickening, subconjunctival neuromas, and ptosis have also been reported (2– 6). There are usually no fundal findings on examination, but in patients presenting initially with medullary thyroid cancer, choroidal metastases have been observed (5). In this report, we describe the ocular findings of a patient with MEN2B and recommend referral to an endocrinologist for further investigation and management of potentially life-threatening systemic manifestations of the syndrome in undiagnosed patients. |
| Databáze: | OpenAIRE |
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