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:
Correct Diagnosis: Juvenile Myoclonic Epilepsy (JME)
Explanation
The clinical presentation of a 19-year-old man with intractable generalized tonic-clonic seizures, worsening with sleep deprivation, morning myoclonic jerks, and photosensitivity during EEG strongly suggests Juvenile Myoclonic Epilepsy (JME) — a type of idiopathic generalized epilepsy.
JME typically begins in adolescence (ages 12–18) and is characterized by a triad of:
- Myoclonic jerks, especially in the morning, often affecting the arms and sometimes triggered by sleep deprivation or stress.
- Generalized tonic-clonic (GTC) seizures, often occurring upon waking.
- Absence seizures (in some patients).
Key clues in this case:
- Morning jerks: Classic for JME; patients often drop objects or have sudden, brief, shock-like muscle contractions.
- Sleep deprivation worsening seizures: Common trigger in JME.
- Photosensitivity on EEG: Flashing lights triggering myoclonic jerks is common; EEG often shows generalized 4–6 Hz polyspike-and-wave discharges.
- Worsening on carbamazepine: JME can worsen with sodium channel blockers like carbamazepine or phenytoin, which may exacerbate seizures in generalized epilepsies. This is a diagnostic clue.
Management:
The first-line treatment for JME is valproic acid, which is effective for all seizure types associated with JME. However, due to teratogenicity, levetiracetam or lamotrigine may be considered in females of childbearing age. Other suitable alternatives include topiramate or zonisamide.
Prognosis:
JME is a lifelong condition, though seizures can be well controlled with medication. Non-compliance and sleep deprivation are common reasons for breakthrough seizures.
In summary, this young man’s combination of generalized seizures, myoclonus, photosensitivity, and worsening with carbamazepine is classic for Juvenile Myoclonic Epilepsy — an important diagnosis that requires appropriate antiepileptic selection and patient education.
