A 19-year-old man presents with intractable generalized tonic-clonic (GTC) seizures, which worsen with sleep deprivation. He also reports morning twitching and jerks while taking carbamazepine. Additionally, he experienced muscle twitching during his EEG when exposed to flashing lights.
The Correct Answer and Explanation is:
Based on the clinical scenario, the most likely diagnosis is Juvenile Myoclonic Epilepsy (JME). The use of carbamazepine, which can worsen this condition, supports this diagnosis.
✅ Correct Answer: Juvenile Myoclonic Epilepsy (JME)
Juvenile Myoclonic Epilepsy (JME) is a common generalized epilepsy syndrome that typically begins in adolescence, usually between 12 and 18 years of age. It is characterized by a triad of:
- Myoclonic jerks, particularly in the morning
- Generalized tonic-clonic seizures (GTCs)
- Absence seizures (in some cases)
This 19-year-old male presents with hallmark features of JME:
- Morning jerks and twitching: These myoclonic seizures usually involve the arms and are most noticeable shortly after awakening.
- GTC seizures worsened by sleep deprivation: Sleep deprivation is a known trigger for seizures in JME.
- Photoparoxysmal response on EEG (seizure with flashing lights): This is a common EEG finding in JME, as photic stimulation can provoke epileptiform activity.
- Worsening with carbamazepine: This is a key diagnostic clue. Carbamazepine and phenytoin are sodium channel blockers that can aggravate generalized epilepsies like JME. This adverse effect is often used as an indirect diagnostic marker.
🔬 Diagnosis:
The diagnosis is often clinical but supported by EEG findings showing:
- 4–6 Hz polyspike and wave discharges, typically generalized and triggered by photic stimulation or hyperventilation.
💊 Management:
- First-line treatment: Valproic acid, especially effective for all seizure types in JME.
- Other options: Levetiracetam, lamotrigine, and topiramate.
- Avoid: Carbamazepine, oxcarbazepine, phenytoin — these may worsen seizures.
🚨 Clinical Pearl:
Always consider JME in teenagers or young adults with new-onset GTC seizures, especially with morning jerks, photic sensitivity, and worsening with inappropriate anti-epileptic drugs.