Epilepsy combined with Wolf-Hirschhorn syndrome: a literature review and description of clinical cases

• Main Authors: M. B. Mironov, N. V. Chebanenko, S. O. Ayvazyan, S. A. Vladimirova, K. V. Osipova, S. G. Burd, Yu. V. Rubleva, T. M. Krasilshchikova, V. G. Bychenko
• Format: Article
• Language: Russian
• Published: IRBIS LLC 2019-03-01
• Series: Эпилепсия и пароксизмальные состояния
• Subjects: wolf-hirschhorn syndrom; chromosomal abnormalities; epilepsy; bilateral tonic-clonic seizures; febrile seizures; atypical absences; video-eeg monitoring
• Online Access: https://www.epilepsia.su/jour/article/view/440

This article presents the anamnestic, clinical, electro-encephalographic and neuroimaging findings in 5 patients with epilepsy combined with Wolf-Hirschhorn syndrome (WHS). According to our data and the results of others, this combination has its specific characteristics. These include: a high incidence of epilepsy in patients with WHS (50-100% of cases), an early debut of seizures (mainly in the first year of life), fever-provoked seizures, and a variety of seizure types – focal paroxysms, bilateral tonic-clonic seizures, atypical febrile seizures, atypical absences and epileptic spasms. In addition, there may be frequent epileptic seizures tending toward status epilepticus, a slowing of the major EEG activity, a local EEG slowing (mainly in the posterior and bi-frontal areas), and regional / multiregional epileptiform activity. In more than 50% of cases, the diffuse peakwave activity is observed; the broad spectrum anti-epileptic drugs are highly efficient in 80% of cases. Based on this study, we propose recommendations for the management of patients with epilepsy combined with WHS.