Title : Atypical presentation of Juvenile myoclonic epilepsy in a 16-year-old female: A Case Report
Abstract:
Background: Juvenile myoclonic epilepsy (JME) is a common idiopathic generalized epilepsy syndrome that typically manifests during adolescence, with onset most often between the ages of 12 and 18 years. It accounts for approximately 5–10% of all epilepsies and up to 26% of idiopathic generalized epilepsies. The condition is characterized by myoclonic jerks, usually occurring shortly after awakening, and may be associated with generalized tonic–clonic seizures and, in some cases, absence seizures. Despite the well-described electro clinical pattern, JME can be under recognized due to the subtlety of myoclonic jerks and the absence of overt convulsive episodes. Early recognition is critical because the disorder responds well to appropriate antiepileptic therapy, and untreated cases can progress to generalized tonic–clonic seizures or psychosocial impairment.
Case Presentation: We report a 16-year-old female with a two-year history of morning, sudden, brief episodes, which she calls “glitches,” accompanied by a transient sensation of her eyes rolling back and arms extending outwards. There is no myoclonic jerking, loss of consciousness, confusion, or other neurological deficits
She denies any preceding aura, visual disturbances, or generalized convulsions. Her past medical history is unremarkable, with normal developmental milestones and no family history of epilepsy or neurologic disease.
Neurological examination was entirely normal, with no focal deficits, gait disturbance, or cognitive impairment. Routine laboratory studies, including metabolic and electrolyte panels, were within normal limits. A brain MRI was performed and was unremarkable. . Electroencephalogram (EEG) revealed classic findings consistent with juvenile myoclonic epilepsy, characterized by generalized epileptiform consistent with the diagnosis of JME
These findings, along with the clinical history, confirmed the diagnosis of JME.
Discussion: This case illustrates an atypical presentation of JME in which the patient’s self-described “glitches” corresponded to subtle morning eye rolling back sensation with arms outstretched and without any generalized tonic–clonic or absence seizures. Such subtle presentations may be overlooked or misattributed to near syncope, benign tics, anxiety-related movements, or sleep deprivation. The absence of loss of consciousness and a normal neurological examination can further obscure recognition. Importantly, this case underscores the value of obtaining a detailed patient history. EEG remains the diagnostic cornerstone, as its characteristic generalized spike and polyspike-wave patterns can distinguish JME from other movement disorders or focal epilepsies.
Management of JME typically includes lifelong antiepileptic therapy, with valproate being the most effective agent. However, in adolescent females, alternative medications such as levetiracetam or lamotrigine are often preferred due to teratogenic and metabolic considerations. Early diagnosis and treatment can prevent progression and help patients maintain normal academic and social functioning.
Conclusion: Juvenile myoclonic epilepsy may present with subtle, self-described “glitches” rather than classical myoclonic jerks or generalized seizures. Clinicians should maintain a high index of suspicion when evaluating adolescents with brief, involuntary morning movements and normal neurological examinations. Prompt EEG evaluation and early treatment are crucial to achieving seizure control and preventing complications. Recognition of atypical presentations enhances diagnostic accuracy and ensures optimal long-term outcomes.
Keywords: juvenile myoclonic epilepsy, adolescent, myoclonic jerks, EEG, case report
