Case: 13-year-old Boy on Referral from His PCP

00:01 In this lecture, we're going to talk about the epilepsy syndromes.

00:05 Let's start with a case.

00:07 This is a 13-year-old boy who presents to the ED on referral from his PCP.

00:12 The boy initially presented with problems in school and staring about eight months ago.

00:17 Initially, he was diagnosed with ADD.

00:20 But recently there's been concerned for seizures.

00:23 His seizures involve brief episodes of staring without post event confusion.

00:28 He's never had a generalized seizure.

00:31 He also has depressed mood.

00:33 And at times is reported to have episodes of pressured speech and grandiose behavior.

00:39 He was placed on carbamazepine three weeks ago, as he was not able to get and see neurologist for another two months.

00:46 Unfortunately, after starting this medicine, his seizures have worsened.

00:51 And he's now having five spells a day, which is increased from one to two per week before.

00:57 So what's the diagnosis? Well, first, let's try and figure out what type of epilepsy or seizure disorder this patient may have? As with the other seizure conditions, we start with what happens before the event.

01:09 And with these, we don't know.

01:11 There's not a description of an aura, or a pre-event warning, or trigger.

01:17 Next, we move to what happens during the event? This patient seizures are brief.

01:22 They involve the staring or a behavioral arrest, and then they're done.

01:27 It sounds like they're over about as fast as they've started.

01:30 These are very brief staring spells or behavioral arrests.

01:36 Third, we look at what happens after the event.

01:39 And this event is not associated with postictal or post event confusion, or alteration in sensorium, as we typically see with focal-onset seizures, or generalized, or secondary generalized tonic clonic seizures.

01:52 And then last are some wildcard features.

01:54 And this case has a very important one.

01:56 This patient was started on carbamazepine, and all of a sudden his seizures are worse.

02:02 Carbamazepine is one of these medicines that can worsen certain seizure types and specifically the primary generalized epilepsies.

02:10 So what is our epilepsy diagnosis for this patient? Is this juvenile absence epilepsy? Juvenile myoclonic epilepsy? Temporal lobe epilepsy? Or a rare condition called autosomal-dominant frontal lobe epilepsy? Well, first, this doesn't sound like frontal lobe epilepsy.

02:28 The semiology suggests that this may be a generalized event.

02:32 There's no aura as we see with partial onset seizures or focal-onset seizures.

02:36 There's no post event confusion, as we often see with those that have altered awareness.

02:41 This sounds like a short brief absence or absence seizure.

02:45 And that would be inconsistent with a diagnosis of autosomal-dominant frontal lobe epilepsy.

02:52 What about juvenile myoclonic epilepsy? That is a generalized epilepsy, but we see other seizure types.

02:58 In addition to absences we often see myoclonic seizures and generalized tonic-clonic seizures.

03:05 This patient has not had a generalized event.

03:07 At this point, juvenile myoclonic epilepsy would not be our favorite diagnosis.

03:14 Temporal lobe epilepsy is one of the more common focal-onset epilepsy diagnoses.

03:20 But again, this patient's seizures sound like they're more in the primary generalized or generalized-onset category.

03:28 And the lack of response to Tegretol is telling.

03:32 Carbamazepine is a very effective medication for focal onset seizures, and we would expect it to have some benefit for temporal lobe epilepsy.

03:39 And we don't see that here.

03:41 In fact, they carbamazepine worsen this patient seizures.

03:45 So this patient is most likely suffering from juvenile absence epilepsy.

03:49 And this is a pretty typical description of the onset of seizures and the worsening with selected medications like carbamazepine.