Case 98 – Difficult-to-Treat Idiopathic Generalized Epilepsy in a Young Woman

Publisher Summary This chapter examines a case in which the patient had juvenile myoclonic epilepsy (JME), with three seizure types: myoclonic seizures, absence seizures, and generalized tonic–clonic seizures. The case illustrates a common phenomenon in this syndrome, namely the delay in diagnosis. The woman's seizures had started apparently at the age of 18, when she noticed frequent myoclonic jerks happening mainly in the morning (about once or twice a week), more frequent and intense in relation to sleep deprivation or alcohol intake. She remained without treatment until the age of 22, when she was diagnosed with “petit mal” and started on valproic acid (500 mg bid). On valproic acid she gained weight (around 5 kg) and complained of hair loss and epigastralgia. In spite of apparent good compliance with the medication, she continued to have generalized tonic–clonic seizures and frequent myoclonic jerks. TPM was switched to levetiracetam (LEV) (2000 mg a day). Four months later, she continued to have generalized tonic–clonic seizures (once a month) and frequent myoclonic jerks. Zonisamide was added to the treatment. Six months later, on LEV (2000 mg/day), zonisamide (200 mg/day), and LTG (400 mg/day), she was seizure-free. Myoclonic jerks, absences, and generalized tonic–clonic seizures had disappeared. The chapter also includes further comments on the issues brought up in the case.