Progressive myoclonic epilepsy: case report

Abstract

Context: Progressive myoclonic epilepsy (PMS) begins in childhood or during adolescence, being a heterogeneous group of symptomatic progressive progressive generalized epilepsy. Composed of cortical myoclonus, multiple epileptic seizures, delayed or regressed neuropsychomotor development and cerebellar manifestations. Genetics is heterogeneous with a similar clinical presentation, which makes etiological definition difficult. Report a clinical case of generalized epilepsy, myoclonus, cerebellar condition and severe mental impairment. Analysis of medical records of a patient at Santa Casa de Belo Horizonte. Case report: MVPP, 17 years old, previously healthy, adopted son, normal neuropsychomotor development, first generalized tonic-clonic seizure at 8 years old, recurrence at 12 years old, being initiated by Valproato and Clobazam. In 2018 there was a worsening of the crises, perceived myoclonus, added Lamotrigine and Oxcarbazepine. EEG with continuous diffuse epileptic activity of subclinical epilepticus status and unchanged skull MRI. In 2019 he started with gait ataxia, balance changes, dysarthria, dysmetria, cognitive decline, loss of functionality and refractoriness to treatment. Valproate reduced and oxcarbazepine suspended. Video- EEG with ictal pattern of generalized wave polyspicle. Deteriorated cerebellar condition with extensive propaedeutic without alterations. There was no feasibility of genetic testing at the time. Methylprednisolone pulse therapy with partial improvement. Unsuccessful attempt to levetiracetam due to psychotic symptom. He presented lowering of the sensorium, bronchoaspiration and orotracheal intubation. He evolved with myoclonic status, adjusted for anti-crisis drugs, midazolam, thiopental, tracheostomy and gastrostomy. He maintained super- refractory status, being opted for callosotomy. He died within weeks of the procedure. Conclusion: The early diagnosis of PMS is a challenge, and its evolution is usually debilitating, with a poor prognosis and scarce specific treatment. Whenever possible, a genetic study is needed to define an etiological diagnosis.