Challenges in the Treatment of Juvenile Myoclonic Epilepsy in Female Patients

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Juvenile myoclonic epilepsy (JME) is the most common idiopathic generalized epilepsy syndrome with a prevalence between 5 and 10% of all epilepsies.[1] Seizures begin typically between the ages of 12 and 18, with a mean of 15 years in JME.[2] [3] Myoclonic seizures is a must for the diagnosis of JME. All the patients have myoclonic seizures, whereas generalized tonic–clonic seizures and absence seizures are seen in 85 to 90% and 20 to 40% of the patients, respectively.[2] [4] Photosensitivity is a sign for early onset seizures. Common triggers are insomnia, alcohol intake, stress, anxiety, and fatigue. Typical seizures occur in the mornings, especially within 30 to 60 minutes after waking up.[5] [6]

Although the diagnostic criteria for JME are not clear, the diagnosis is based on a detailed history, supportive clinical features, and typical electroencephalogram (EEG) findings.[7] A supportive clinical history is crucial for the diagnosis.

EEG findings generally supports the diagnosis. The typical EEG pattern in JME shows diffuse, symmetric, bilateral 4 to 6 Hz (Hz) polyspike, and wave discharges with a frontocentral predominance. Additionally, 10 to 16 Hz polyspike-wave discharges, and accompanying myoclonic jerks may be seen in ictal EEG. The background activity is generally normal otherwise in these patients.[8] [9] In cases of high clinical suspicion, a sleep and sleep-deprived EEG should be undertaken, even if routine EEG is normal.[10]

Although brain magnetic resonance imaging (MRI) of the patients is typically normal, further examination may display small structural and functional defects in a minority of JME patients.[11] Childhood/juvenile absence epilepsy, absence epilepsy with eyelid myoclonia, idiopathic photosensitive occipital lobe epilepsy, and progressive myoclonic epilepsy should be kept in mind for differential diagnosis. Nonepileptic seizures should also be ruled out.[7] [12]

Patients with JME usually have a good treatment response to standard antiseizure drugs as monotherapy. Valproate is recommended as a first-line treatment for most patients.[13] Valproate should be used with caution due to its teratogenicity risk, especially in postpubertal girls considering pregnancy or incapable to guarantee reliable birth control practices.[14] Antiseizure drug decision should be done together with the family, taking into account the balance of benefit and harms especially in patients with drug-resistant epilepsy.[15] Other antiseizure drug options include levetiracetam,[16] lamotrigine,[17] topiramate,[18] and zonisamide[19] in the treatment of JME. Considering the possible side effects of valproate, levetiracetam, which is effective in reducing epileptiform EEG abnormalities and suppressing photo-paroxysmal response, can be preferred as an alternative in adolescent girls.[20] [21] There are documented reports revealing that levetiracetam may trigger suicidal ideation, especially in patients with mood disorders.[22] Although suicidal ideas may increase with levetiracetam treatment, there are very few patients who actually attempt suicide in the literature.[23] Although lamotrigine is one of the alternative and effective antiepileptic drugs in the treatment of JME, many side effects ranging from rash to hepatotoxicity have been reported.[24] [25]

In this case report, we aim to emphasize the challenge of treatment management due to rare adverse effects in a patient with JME.

Availability of Data and Material

Y.G. affirms that this manuscript is an honest, accurate, and transparent account of the study being reported; that no important aspects of the study have been omitted; and that any discrepancies from the study as planned (and, if relevant, registered) have been explained.


Abbreviation

INR = International Normalised Ratio, TBIL = Total Bilirubin, DBIL = Direct bilirubin, LDH = Lactat Dehydrogenase, ALP = Alkaline Phosphatase, CMV = Cytomegalovirus, EBV = Epstein–Barr Virus, TOXO = Toxoplasma Gondii, HBV = Hepatitis B Virus, HIV = Human Immunodeficiency Virus, HAV = Hepatitis A Virus, AMPA = α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid

Publication History

Article published online:
28 March 2024

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