Abstract:A 27-year-old woman presented with sudden onset left-sided numbness and double vision. In the last 10 years, she developed diabetes mellitus, cataract, osteoarthritis, osteoporosis, benign neoplasm of the skull, epilepsy, and nonscarring alopecia. Her parents were first-degree relatives and there were no relatives with similar disease. On examination there were right internuclear ophthalmoplegia, short stature, tight skin, hyperkeratosis (figure 1), cataract, and mild cognitive impairment. Brain MRI disclosed … Show more
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