Epilepsy combined with Wolf-Hirschhorn syndrome: a literature review and description of clinical cases
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
N. V. Chebanenko,
S. O. Ayvazyan,
S. A. Vladimirova,
K. V. Osipova,
S. G. Burd,
Yu. V. Rubleva,
T. M. Krasilshchikova,
V. G. Bychenko https://doi.org/10.17749/2077-8333.2018.10.4.039-052
Abstract
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.
About the Authors
M. B. Mironov
Medical Center for Pediatric Neurology and Pediatrics.
Russian Federation
Russian Federation
Mikhail B. Mironov – MD, PhD, Head of the Laboratory of Video-EEG Monitoring.
13/32 prospekt Andropova, Moscow 101100.
N. V. Chebanenko
St. Luka’s Clinical Research Center for Children.
Russian Federation
Russian Federation
Natalya V. Chebanenko – MD, PhD, Head, Department of General Psychoneurology.
38 Aviatorov Str., Moscow 119620.
S. O. Ayvazyan
St. Luka’s Clinical Research Center for Children; St. Luka’s Clinical Research Center for Children.
Russian Federation
Russian Federation
Sergey O. Ayvazyan – MD, PhD.
38 Aviatorov Str., Moscow 119620.
38 Aviatorov Str., Moscow 119620.
S. A. Vladimirova
Center of modern medicine.
Russian Federation
Russian Federation
Svetlana A. Vladimirova – MD, Neurologist.
2/2 Lenina, Lobnja 141730, Moscow regio.
K. V. Osipova
St. Luka’s Clinical Research Center for Children.
Russian Federation
Russian Federation
Karina V. Osipova – MD, PhD, Head, Department of Psychoneurology.
38 Aviatorov Str., Moscow 119620.
S. G. Burd
Pirogov Russian National Research Medical University, Ministry of Health of Russia.
Russian Federation
Russian Federation
Sergey G. Burd – MD, PhD, Professor at the Chair of Neurology, Neurosurgery and Medical Genetics, Faculty of Pediatrics.
1 Ostrovityanova Str., Moscow 117997.
Yu. V. Rubleva
Pirogov Russian National Research Medical University, Ministry of Health of Russia; Federal Center for Cerebrovascular Pathology and Stroke .
Russian Federation
Russian Federation
Yulia V. Rubleva – MD, PhD, Head, First Department of Neurology; Chair of Neurology, Neurosurgery and Medical Genetics, Faculty of Pediatrics.
1 Ostrovityanova Str., Moscow 117997.
1-10 Ostrovityanova Str., Moscow 117997.
T. M. Krasilshchikova
Pirogov Russian National Research Medical University, Ministry of Health of Russia.
Russian Federation
Russian Federation
Tatyana M. Krasilshchikova – Assistant, Chair of Neurology, Neurosurgery and Medical Genetics, Faculty of Pediatrics.
1 Ostrovityanova Str., Moscow 117997.
V. G. Bychenko
Research Center for Obstetrics, Gynecology and Perinatology named after V. I. Kulakov of the Ministry of Health of Russian Federation.
Russian Federation
Russian Federation
Vladimir G. Bychenko – MD, PhD, Head, Department of Diagnostic Radiology.
4 akademika Oparina Str., Moscow 117198.
References
1. Cooper H., Hirschorn K. Apparent deletion of shot arms of one chromosome (4 or 5) in a child with defects of midline fusion. Mammalian ChromNwsl. 1961; 4: 14.
2. Hirschhorn K., Cooper H. L., Firschein I. L. Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. Human genetik. 1961; 1 (5): 479-82. PMID 5895684.
3. Wolf U., Reinwein H., Porsch R., Schröter R., Baitsch H. Deficiency on the short arms of a chromosome No. 4. Human genetik (in German). 1965; 1 (5): 397-413.
4. Battaglia A., Guerrini R. Chromosomal disorders associated with epilepsy. Epileptic Disord. 2005 Sep; 7 (3): 181-92.
5. Battaglia A., Carey J. C., Wright TJ. Wolf-Hirschhorn (4p-) syndrome. Adv Pediatr. 2001; 48: 75-113.
6. Guthrie R. D., Aase J. M., Asper A. C., Smith D. W. The 4p-syndrome. A clinically recognizable chromosomal deletion syndrome. Am J Dis Child. 1971 Nov; 122 (5): 421-5.
7. Centerwall W. R., Thompson W. P., Allen I. E., Fobes C. D. Translocation 4p-syndrome. Am J Dis Child. 1975; 129: 366-70.
8. De Grouchy J., Turleau C. Clinical atlas of human chromosomes. 2nd ed. New York: John Wiley. 1984.
9. Stengel-Rutkowski S., Warkotsch A., Schimanek P., Stene J. Familial Wolf’s syndrome with a hidden 4p deletion by translocation of an 8p segment. Unbalanced inheritance from a maternal translocation (4; 8) (p15.3; p22). Case report, review and risk estimates. Clin Genet. 1984; 25: 500-21.
10. Reid E., Morrison N., Barron L., Boyd E., Cooke A., Fielding D., Tolmie J. L. Familial Wolf-Hirschhorn syndrome resulting from a cryptic translocation: a clinical and molecular study. J Med Genet. 1996 Mar; 33 (3): 197-202.
11. Kanazawa O., Irie N., Kawai I. Epileptic seizures in the 4p- syndrome: report of two cases. Jpn J Psychiatry Neurol. 1991 Sep; 45 (3): 653-9.
12. Ho K. S., Markham L. M., Twede H., Lortz A., Olson L. M., Sheng X., Weng C., Wassman E. R. 3rd, Newcomb T., Wassman E. R.,Carey J. C., Battaglia A. A survey of antiepileptic drug responses identifies drugs with potential efficacy for seizure control in Wolf-Hirschhorn syndrome. Epilepsy Behav. 2018 Apr; 81: 55-61. doi: 10.1016/j.yebeh.2017.12.008. Epub 2018 Mar 20.
13. Blanco-Lago R., Malaga-Dieguez I., Granizo-Martinez J.J., CarreraGarcia L, Barruz-Galian P., Lapunzina P., Nevado-Blanco J. En Representacion Del Grupo Colaborativo Para El Estudio Del Sindrome de Wolf-Hirschhorn ERDGCPEEDSW. Wolf-Hirschhorn syndrome. Description of a Spanish cohort of 51 cases and a literature review. Rev Neurol. 2017 May 1; 64 (9): 393-400.
14. Battaglia A., Brothman A. R., Carey J. C., Cederholm P., Viskochil D. H., Galasso C. Natural history of Wolf-Hirschhorn syndrome: experience with 15 cases. Pediatrics 1999; 103: 830-6.
15. Ogle R., Sillence D. O., Merrick A. et al. The Wolf-Hirschhorn syndrome in adulthood: evaluation of a 24-year-old man with a rec(4) chromosome. Am J Med Genet. 1996; 65: 124-7.
16. Sgrò V., Riva E., Canevini M. P. et al. 4p-syndrome: a chromosomal disorder associated with a particular EEG pattern. Epilepsia. 1995; 36: 1206-14.
17. Righini A., Ciosci R., Selicorni A., Bianchini E., Parazzini C., Zollino M., Lodi M., Triulzi F. Brain Magnetic Resonance Imaging in WolfHirschhorn Syndrome. Neuropediatrics. 2007; 38 (1): 25-28. DOI: 10.1055/s-2007-981685.
Review
For citations:
Mironov M.B., Chebanenko N.V., Ayvazyan S.O., Vladimirova S.A., Osipova K.V., Burd S.G., Rubleva Yu.V., Krasilshchikova T.M., Bychenko V.G. Epilepsy combined with Wolf-Hirschhorn syndrome: a literature review and description of clinical cases. Epilepsy and paroxysmal conditions. 2018;10(4):39-52. (In Russ.) https://doi.org/10.17749/2077-8333.2018.10.4.039-052
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