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Review Question - QID 107239

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QID 107239 (Type "107239" in App Search)
A 5-year-old is brought into your office by his mother. His mother states that he is having 10-20 episodes per day where he stops responding to his mother and is found staring out of the window. During these periods, he blinks more frequently than normal, but returns to his normal self afterwards. These episodes last 30 to 60 seconds. His mother states that all of his milestones have been normal and he had an uncomplicated birth. His mother also denies any other recent illness. On exam, his vitals are normal. During one of these episodes in the office, his EEG shows three-per-second spike and wave discharge. What is the most likely diagnosis?

Febrile seizure

0%

0/4

Benign focal epilepsy

0%

0/4

Juvenile myoclonic epilepsy

0%

0/4

Absence seizure

100%

4/4

Hearing deficits

0%

0/4

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A young child with short episodes of nonresponsiveness without a postictal state is most likely suffering from absence seizures.

Absence seizures are characterized by sudden, brief, frequent periods of unconsciousness that last from a few seconds to minutes. During these periods, the child is typically non-responsive, and these episodes may be accompanied by automatic movements such as blinking. They may occur alone, or may coexist with other types of seizures in a child with other epileptic syndromes as discussed in the incorrect answer choices. Children with absence seizures should be treated with ethosuximide (1st line) or valproate (2nd line).

Posner et al. discuss absence seizures in children and state that absence seizures typically have a typical spike and wave pattern on the electroencephalogram (EEG) (that is usually 3Hz in frequency). They also state that 10% of children with epilepsy suffer from typical absence seizures which generally spontaneously resolve by the age of 12 years. If the seizures are atypical or cannot be well controlled on ethosuximide, they recommend investigation of genetic factors suspicious for syndromes such as juvenile myoclonic epilepsy.

Berg et al. discuss long-term seizure remission in children suffering from absence seizures after being treated with ethosuximide (ESM) vs valproate (VPA). They state that 76% of children treated with ESM achieved complete remission compared to 39% with VPA (P=0.007, hazard ratio=2.5) after initial therapy upon diagnosis. They also noted that at ESM had high sustained 5-year and 10-year remission when compared with VPA (P<0.05).

Incorrect Answers:
Answer 1: The patient has normal vitals on exam and the mother denies any recent illnesses making a febrile seizure less likely.
Answer 2: Benign focal epilepsy, commonly called Rolandic seizures, occur because of a genetically inherited autosomal dominant trait. The typical seizure lasts seconds to minutes and involves the mouth in sensory symptoms or focal twitching. These often occur concurrently with generalized seizures.
Answer 3: Juvenile myoclonic epilepsy also commonly occurs because of a genetically inherited autosomal dominant trait. It occurs with the triad of absence, myoclonic, and generalized seizures, often in the morning.
Answer 5: This child may have hearing deficits, but his mother states he has had no recent illnesses and all of his milestones have been normal, making this diagnosis less likely.

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