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Contributed by Michelle Bischoff
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1. A 16-year-old male presents to the emergency department after having a generalized tonic-clonic seizure upon waking that morning. He states he has had very little sleep the past three days as he went camping with friends. He is otherwise healthy, but reports experiencing occasional “muscle jerks” in the morning that make it difficult for him to brush his teeth and comb his hair. These symptoms began two years prior. Because the muscle jerks always went away an hour or so after onset, he explains he never told anyone he was experiencing them. Neurological exam is normal. What is the most likely diagnosis?
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Topics:
pediatrics,
general pediatrics,
neurology
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The patient history and clinical manifestations are characteristic of Juvenile Myoclonic Epilepsy. Patients with Juvenile Myoclonic Epilepsy initially experience myoclonic jerks upon waking in the morning, with symptoms subsiding later in the day. Typically a few years later, the patient develops generalized tonic-clonic seizures, which can be precipitated by sleep deprivation or other stressors. Onset is usually between ages twelve and sixteen years.
Lafora disease is a type of severe, progressive myoclonic epilepsy that usually appears in children between ages ten and eighteen years. Initial symtoms include myoclonic jerks that increase in intensity and frequency with disease progression. Neurological findings become prominent, particularly mental deterioration within the first year of onset.
Patients with Frontal lobe epilepsy experience seizures originating in the frontal lobe and have manifestations (including motor and behavioral) concurrent to the specific area affected.
Absence seizures often occur in school-age children, and may be mistaken for inattention or daydreaming.