A 14-year-old boy presents to his pediatrician with a 2-month history of intermittent arm and leg spasms. He says that the spasms usually occur after he wakes up as he is getting ready for school, and consist of disorganized jerking motions that stop after a few minutes. He has also noticed that they occur when he stays up late to cram last minute for exams. He has not noticed any other symptoms. He has no medical history and takes no medications. He recently started experimenting with alcohol and marijuana that one of his friends has been stealing from their parents. His temperature is 98.6°F (37.0°C), blood pressure is 115/70 mmHg, pulse is 70/min, and respirations are 12/min. Physical exam reveals a healthy child. Which of the following is the most likely cause of this patient's symptoms?
Alcohol intoxication
Cannabinoid use
Juvenile myoclonic epilepsy
Absence seizures
Juvenile myoclonic epilepsy
This patient who presents with intermittent jerking of his extremities that occur primarily after waking up or when sleep-deprived most likely has juvenile myoclonic epilepsy.

Juvenile myoclonic epilepsy (JME) is a poorly understood condition that presents with intermittent myoclonic jerks of the extremities. These myoclonic jerks usually have an onset occurring in early adolescence in otherwise healthy children. Myoclonic jerks are most frequently seen right after waking from sleep, but they may also be triggered by lack of sleep, stress, or alcohol consumption. Patients with this disease rarely have associated symptoms but may occasionally also experience absence seizures or generalized tonic-clonic seizures. The diagnosis can be secured with a history of seizures alongside an interictal electroencephalogram (EEG) that shows 4 to 6 Hz bilateral polyspikes. Valproate is the first-line treatment.

Johannessen et al. discuss the treatment of juvenile myoclonic epilepsy. They find that standard antiepileptic treatment with agents such as valproate leads to only 33% of patients remaining seizure-free. They recommend trials of alternative antiepileptic medications such as levetiracetam, lamotrigine, and topiramate in patients that do not respond to valproate.

Incorrect Answers:
Answer A: Absence seizures commonly present during childhood in otherwise healthy children; however, these seizures are typically characterized by short episodes of loss of awareness known as "staring spells" without physical manifestations.

Answer B: Alcohol intoxication is a risk factor for precipitating juvenile myoclonic epilepsy, but alcohol use does not cause this condition. Seizure activity may also occur during alcohol withdrawal, but the timing of this patient's symptoms is more suggestive of seizure symptoms. Alcohol withdrawal requires chronic drinking of large amounts leading to an increase in central nervous system N-methyl-D-aspartate receptors and a decrease in CNS gamma-aminobutyric acid type A receptors. When alcohol cessation occurs, seizures ensue.

Answer C: Cannabinoid use is not associated with seizure activity either during intoxication or withdrawal. Patients may have altered mental status, but this does not manifest as myoclonic jerks.

Answer E: West syndrome is an infantile seizure disorder that usually presents between 3 months and 12 months of age. These patients will present with recurrent flexion spasms of the extremities.

Bullet Summary:
Juvenile myoclonic epilepsy presents in adolescents with recurrent spasms after waking from sleep or when sleep-deprived.