Miastenia gravis congênita e oftalmoplegia externa

Abstract

Myasthenia gravis is a chronic disease characterized by abnormal fatigability of striated muscles which may involve isolated muscle groups or become generalized. The authors report a case of generalized congenital myasthenia gravis and partial ophthalmoplegia involving a 10-year-old boy with systemic symptoms of absence of adduction, abduction and elevation in both eyes and with bilateral palpebral ptosis, and reduced infraversion function. The patient was diagnosed at two years and six months of age, when treatment with pyridostigmine was started at subtherapeutic doses, with no significant changes in clinical signs and symptoms. At four years of age, the patient was taken to this institution and the dose of his medication was adjusted, with significant improvement of systemic motor systems, partial improvement of palpebral ptosis, and no change in external ophthalmoplegia.