Janz Syndrome: Clinical Case Report in Ecuador

Abstract

Introduction: Janz Syndrome or Juvenile Myoclonic Epilepsy generally begins in puberty or adolescence, it has an idiopathic-hereditary etiology that presents myoclonic jerks, generalized tonic-clonic seizures that are produced by sleep deprivation, alcohol intake, among others. . Few cases have been reported internationally, giving an estimated 1 case per 1000-2000 people, currently there are no cases reported in Ecuador, this because in many cases this disease is underdiagnosed. The treatment of choice is Valproic Acid, although it has been shown that treatment with Levetiracetam has given good results. 

Objective: Describe a clinical case of a young patient who presents Juvenile Myoclonic Epilepsy, analyzing the clinical-electroencephalographic characteristics and emphasize the need for an adequate diagnosis and treatment. 

Material and methods: Retrospective descriptive study, clinical case presentation.  

Results: A clinical case of a 24-year-old female patient with a pathological history of essential myoclonus of the arms from the age of 16 with sporadic appearance is presented, who visits a private doctor who prescribes Valproic Acid 500 mg orally 2 times a day with apparent improvement, 4 years later, an episode of generalized tonic clonic seizure appears, this same episode is repeated 9 times during 2 years, currently being treated with Levetiracetam 2000 mg orally every day.  

Conclusions: It can be concluded that Janz Syndrome is a pathology that is difficult to diagnose and that with proper treatment there is a favorable response to the different anticonvulsants, achieving an adequate quality of life