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Case 32
A 16 year-old girl comes to the office for evaluation of her epilepsy. She had her first generalized seizure
three years ago, the day after a slumber party. Several months later she had another seizure, and was
placed on carbamazepine. MRI and routine EEG were normal, but she had 5 more seizures over the
next 6 months. She was switched to phenytoin and had another 3 seizures over the next year.
Gabapentin was added, but she still has a seizure every few months. You determine that one of her
three siblings also has epilepsy, as does a first cousin. Her examination reveals gingival hyperplasia and
mild end-gaze nystagmus bilaterally.
1) Summarize the case briefly, including neuroanatomic localization and pathogenesis.
2) What is the most likely diagnosis? Name 1-2 alternative diagnoses, and discuss briefly why these
are less likely.
3) What additional information (history, exam, laboratory or other studies) would you like to obtain?
What laboratory findings would you expect if your most likely diagnosis is correct?
4) Assuming your most likely diagnosis is correct, how would you manage this patient? Include doses
for one medication you might prescribe, along with an estimate of the cost of a month of your
proposed therapy. How would you counsel the patient about her condition and about any proposed
therapy?
Case 32
A 16 year-old girl comes to the office for evaluation of her epilepsy. She had her first generalized seizure
three years ago, the day after a slumber party. Several months later she had another seizure, and was
placed on carbamazepine. MRI and routine EEG were normal, but she had 5 more seizures over the
next 6 months. She was switched to phenytoin and had another 3 seizures over the next year.
Gabapentin was added, but she still has a seizure every few months. You determine that one of her
three siblings also has epilepsy, as does a first cousin. Her examination reveals gingival hyperplasia and
mild end-gaze nystagmus bilaterally.
1) Summarize the case briefly, including neuroanatomic localization and pathogenesis.
2) What is the most likely diagnosis? Name 1-2 alternative diagnoses, and discuss briefly why these
are less likely.
3) What additional information (history, exam, laboratory or other studies) would you like to obtain?
What laboratory findings would you expect if your most likely diagnosis is correct?
4) Assuming your most likely diagnosis is correct, how would you manage this patient? Include doses
for one medication you might prescribe, along with an estimate of the cost of a month of your
proposed therapy. How would you counsel the patient about her condition and about any proposed
therapy?