ROMANIAN JOURNAL OF NEUROLOGY – VOLUME XII, NO. 2, 2013 92 CASE PRESENTATIONS EARLY ONSET OF OCULAR AUTOIMMUNE MYASTHENIA – CASE REPORT Raluca Ioana Teleanu 1,2 , Smaranda Nita 2 , Daniela Vasile 2 1 “Carol Davila“ University of Medicine and Pharmacy, Bucharest 2 “Dr. Victor Gomoiu” Children’s Hospital, Department of Pediatric Neurology, Bucharest Author for correspondence: Assoc. Prof. Raluca IoanaTeleanu MD, PhD, “Dr. Victor Gomoiu” Children’s Hospital, Basarabia Bd. 21, Bucharest, Romania e-mail: ralucate@gmail.com ABSTRACT The article aims to present a rare case of autoimmune myasthenia diagnosed in our clinic with an onset before the age of threein a girl initially presentingblepharoptosis, exotropia and nystagmus. The exclusive ocular involvement has persisted throughout the clinical course of eleven months until the present moment, showing partial improve- ment under daily administration of pyridostigmine bromide. Finally we wish to underline the future possible out- comes and management options which were taken into consideration in this case, as well as to emphasize the positive role of a multidisciplinary approach in assessing pediatric patients. Key words: myasthenia gravis, autoimmune, ocular, early onset, child INTRODUCTION Myasthenia gravis is a chronic disease charac- terized by rapid fatigability of striated muscles. There are three main clinical forms affecting chil- dren: juvenile myasthenia gravis, congenital myas- thenia and transient neonatal myasthenia. Also, a postinfectious transitory myasthenia gravis can fol- low a varicella-zoster infection. The most common cause is an autoimmune-me- diated blockade of the acetylcholine receptors (AchR), with accompanying elevated anti – AchR antibodies, which are thought to be produced through T-cell activation (1). However, these anti- bodies can only occasionally be found in the plasma of prepubertal children (2). A variety of mostly au- tosomal recessive familial forms are not associated with plasma anti – AchR antibodies. In these cases, plasmatic anti – muscle specific tyrosine kinase (MuSK) antibodies can be elevated. Infants born to myasthenic mothers can develop a transient neonatal myasthenic syndrome associ- ated to anti AchR antibodies transferred via the pla- centa. Clinically, myasthenia gravis is divided, accord- ing to the Myasthenia Gravis Foundation of Amer- ica Clinical Classification (3), into five main classes and several subclasses, the first class designating the pure ocular forms, involving solely the extraoc- ular muscles, while the others describe different patterns of systemic involvement, also affecting other different muscle groups: facial, swallowing, respiratory, limbs. The diagnosis of myasthenia gravis is based on the clinical aspect of progressive diurnal muscle fa- tigability and various paraclinical examinations. In the autoimmune type of myasthenia, the presence of anti – AchR antibodies is diagnostic. However, a large proportion of patients are seronegative and they are sometimes likely to demonstrate elevated anti – MuSK antibodies.An anticholinesterase test is helpful, as it is also likely to predict a response to longer –acting acetylcholine esterase inhibitors 7. The test is performed by assessing the clinical mus- cle weakness before and after administration of a short – acting acetylcholine esterase inhibitor, typi- cally edrophonium. Electrodiagnostic studies,