Epilepsja mioklonii juvenilnej związana z cyklem miesiączkowym: траектoria neuroendokrynna
Catamenial Juvenile Myoclonic Epilepsy: A Neuroendocrine Trajectory
W skrócie
[Preprint - wstępne wyniki] Przypadek opisuje 15-letnią dziewczynę z epilepsją mioklonii juvenilnej, u której napady padaczki nasiliały się w określonych fazach cyklu miesiączkowego ze względu na nieprawidłowe poziomy hormonów reprodukcyjnych, szczególnie progesteronu. Po wdrożeniu leczenia neurologicznego (lamotryginę i lewetiracetam) oraz hormonem (dydrogesteron) pacjentka osiągnęła remisję napadów, która trwała około dziewięciu lat. Badanie wykazuje, że pomiar hormonów w określonych fazach cyklu może pomóc lekarzom lepiej zrozumieć epilepsję u kobiet i dostosować leczenie do potrzeb pacjentki.
Oryginalny abstract (angielski)
Catamenial epilepsy is a neuroendocrine expression of epilepsy in which seizure susceptibility fluc-tuates with reproductive steroid physiology. We describe a 15 years woman with juvenile myo-clonic epilepsy (JME) whose neurological phenotype was accompanied by a clinically recognized menstrual relationship and an objectively documented luteal steroid abnormality. Adolescent-onset morning myoclonus, object dropping and falls, normal brain magnetic resonance imaging, and epi-leptiform electroencephalographic activity supported JME. During the same diagnostic period, menstrual cycles were prolonged (33–36 days), one cycle was missed, and cycle-timed endocrine testing showed a striking day-21 dissociation between estradiol (455 pg/mL) and progesterone (1.16 ng/mL; local luteal reference 6–24 ng/mL), consistent with inadequate luteal progesterone in the clinical context. This endocrine signature provides a biologically coherent substrate for catamenial vulnerability through reduced progesterone-derived neurosteroid support of GABA-A-mediated inhibition. Cyclic dydrogesterone was introduced for menstrual dysfunction, while neurological treatment evolved from early valproate exposure to lamotrigine and adjunctive levetiracetam. Im-portantly, seizure remission began in October 2017, before hormonal therapy, the patient remained seizure-free for approximately nine years, allowing levetiracetam withdrawal in 2023 and a pro-longed lamotrigine taper through 2026. Serial menstrual records across follow-up further docu-mented persistent but evolving cycle-length variability, adding longitudinal reproductive context to the endocrine phenotype. This case demonstrates the value of endocrine phenotyping in women with epilepsy: cycle-timed steroid measurements can strengthen mechanistic interpretation, identify ovulatory/luteal dysfunction relevant to seizure threshold, and guide interdisciplinary care without replacing electroclinical diagnosis or overstating hormonal treatment effects.