Graves’ Orbitopathy: do not give it for granted

Excerpt

A 21-year-old Nigerian man was referred to our Department for endocrinological evaluation. He came from a small village of Nigeria, which he left a month before, coming to Italy as a refugee. He smoked since the age of 14, was unmarried and unemployed. He had a longstanding history of bilateral proptosis, recent ocular pain and photophobia associated with progressive weight loss. At physical examination, in addition to proptosis, only mild conjunctival hyperemia and lower lid retraction were observed (Fig. 1a, b). Proptosis, using Hertel exophtalmometer, was 30 mm in the left eye and 29 mm in the right eye. Clinical findings suggested a diagnosis of Graves’ Orbitopathy (GO). GO includes ophthalmologic signs and symptoms caused by an autoimmune process in which proptosis is the final result of an increase in orbital volume due to expansion of the fibroadipose tissue and/or an increased volume of the extraocular muscles [1]. GO is most frequently associated with Graves’ disease, but may rarely be associated with euthyroid or hypothyroid Hashimoto’s thyroiditis. Further investigations showed that this patient was euthyroid, with no signs of thyroid autoimmunity, including TSH receptor antibodies; thyroid was normal at physical examination and ultrasonography. CT scan of the orbit showed neither extraocular muscle enlargement, nor increase in adipose tissue, nor occupying-space lesions (Fig. 1c, d). The final diagnosis was craniosynostosis. This is a congenital malformative syndrome caused by the premature fusion of cranial sutures, leading to multiple peculiar features and head shapes. In the majority of cases craniosynostosis occurs as a spontaneous isolated defect and only 8% of patients have familiar or syndromic forms of synostosis [2]. Early referral to a pediatric craniofacial center is fundamental in order to establish the optimal treatment, which is often surgical. In our patient craniosynostosis caused severe bilateral proptosis. The patient had lived until one month before referral in a small village, with limited access to hospital care: this may explain why his condition was never diagnosed and remained untreated. His proptosis was responsible for ocular mild irritative symptoms due to eyelid retraction, decreased blinking and incomplete eyelid closure. Diagnosis of GO is usually straightforward, but other causes of proptosis must be taken into consideration for atypical causes. These include, among others, orbital inflammation of different etiology (e.g., vasculitis or scleritis), intracranial tumors, orbital occupying-space lesions (e.g., aneurysms or tumors). Craniosynostosis is rarely taken into consideration in the differential diagnosis of proptosis in the adult, because it is a congenital condition usually early diagnosed during the first years of life. In our patient the delay in the diagnosis of his condition, misled us in our first working diagnosis. The endocrinologist must be aware of the existence of such a rare syndrome in the differential diagnosis of Graves’ Orbitopathy.

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