Abstract

We present a clinical case of a wrong diagnosis of myasthenia in a patient with incomplete ptosis slowly progressing for 5 years, which, by its isolation and asymmetry, imitated ocular symptomatology in myasthenia. The clinical picture was not consistent with the diagnostic criteria for myasthenia. Moreover, other pathology according to laboratory and instrumental studies was absent. There was observed a combination of signs of connective tissue dysplasia in the heart in the form of valve syndrome, skeletal abnormalities, eye pathology syndrome, which made it possible to diagnose the syndrome of undiff erentiated connective tissue dysplasia. Diffi culties in the diff erential diagnosis were polysystemic lesions, the absence of pathognomonic tests for the detection of connective tissue dysplasia, and features of a diff erential diagnosis with ocular myasthenia gravis.

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