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Mysterious Ataxia and Refractory Epilepsy, or Maybe not? Report of a Case of an Opsoclonus-Myoclonus Syndrome

Background: Opsoclonus-Myoclonus Syndrome (OMS) is a rare disorder characterized by opsoclonus, myoclonus, ataxia, behavioural and sleep disturbances. It is presumed to be an autoimmune disorder (paraneoplastic or postinfectious). Onset is usually abrupt. In a sustained number of cases, a full recovery could be seen, especially in the setting of early immunotherapy. We present a case of OMS, which was unrecognized during 25 years of paediatric and neurological follow-up and considered as re fractory epilepsy and ataxia of unknown cause. Case presentation: 27-year-old woman was referred to our Centre as pharmacoresistant epilepsy. She had normal development until the age of 2 when she experienced eyelid myoclonic status. She was diagnosed with epilepsy and introduced valproate and clonazepam. She continued taking antiepileptic drugs during the next 25 years while presenting with progressive ataxia and pharmacoresistant multifocal myoclonus. A myriad of diagnostic tests was performed with no clue for the diagnosis. At the time of admission to our Centre patient had severe opsoclonus, dysarthria and ataxia (ambulatory only with the help of another person). After a detailed review of patient‘s medical reports, we noticed a viral prodrome 20 days before the myoclonic status. The patient was diagnosed as chronic postinfectious OMS. After administered immunotherapy we have observed a significant recovery, most notably in reduction of opsoclonus and ataxia (now ambulatory without assistance). Conclusion:We reported an extreme case of a misdiagnosed OMS, treated as refractory epilepsy during 25 years in which, despite the duration, we observed significant recovery after immunotherapy.

Ataxia, Opsoclonus-Myoclonus Syndrome, Epilepsy

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