West syndrome: Clinical characteristics and short-term outcome

Year 2014, Volume: 5 Issue: 1, 86 - 92, 01.03.2014

Ünsal Yılmaz Rahmi Özdemir

https://doi.org/10.5799/ahinjs.01.2014.01.0365

Abstract

Objective: Limited data are available on the etiology, clinical approach, treatment and outcome in West syndrome. In the present study, we aimed to document clinical characteristics, etiology and treatment response in children with West syndrome. Methods: Hospital charts of children who were diagnosed with West syndrome between July-2011 and December- 2013 and who had a follow-up at least 12-month, were reviewed retrospectively. Results: 38 patients (14 females, 24 males), mean aged 27.1±7.60 months were included. The mean age of seizure onset, interval to diagnosis, and follow-up period were 6.23±4.27 months, 1.36±1.58 months, and 19.3±5.86 months respectively. Perinatal asphyxia (13), tuberous sclerosis (2), cortical dysplasia (2), encephalitis (1), asphyxia due to aspiration (1), congenital cytomegalovirus infection (1), perinatal infarct (1), nonketotic hyperglycinemia (1) and Prader Willi syndrome (1) were the identified causes. The etiology could not be ascertained in the remaining 15 children. Psychomotor development was mildly retarded in 12, moderately retarded in 13, and severely in 13 patients at onset, and did not change significantly at month 12. The initial therapy was synthetic adrenocorticotropic hormone in 11, vigabatrin in 17, levetiracetam in 8 and valproate in 2 patients. At 12th month of therapy, 15 patients were seizure-free, 12 patients showed more than 50% decrease in seizure frequency, and remaining 11 patients showed no significant reduction in seizure frequency. Conclusion: Besides the perinatal asphyxia as most frequent cause, a wide variety of disorders can present as West syndrome. Although, a 12-month-long treatment achieves seizure control in half of the patients, not beneficial effect on psychomotor development was seen. J Clin Exp Invest 2014; 5 (1): 86-92

Keywords

West syndrome, vigabatrine, adrenocorticotropic hormone

West sendromu: Klinik özellikleri ve kısa dönem prognozu

Abstract

Amaç: West sendromu etiyolojisi, tanısı, takibi ve tedavisi
için yeterli veri bulunmamaktadır. Bu çalışmada, West
sendromu tanısı alan hastaların klinik özellikleri, etiyolojisi
ve tedaviye cevaplarının belirlenmesi amaçlandı.
Yöntemler: Temmuz 2011- Aralık 2013 tarihleri arasında
West sendromu tanısı alan ve en az 12 ay süre ile izlenen
hastaların dosyaları retrospektif olarak incelendi.
Bulgular: Ortalama yaşı 27,1±7,60 ay olan 14’ü (%36,8)
kız, 24’ü (%63,2) erkek toplam 38 hasta çalışmaya dahil
edildi. Nöbetlerin başladığı yaş ortalama 6,23±4,27 ay,
tanıya ulaşana kadar geçen süre ortalama 1,36±1,58 ay,
ortalama izlem süresi ise 19,3±5,86 aydı. On beş hastada
spesifik etiyoloji saptanamazken (kriptojenik grup),
13’ünde hipoksik iskemik ensefalopati, ikişer hastada tuberoskleroz
ve kortikal displazi, birer hastada da herpes
ensefaliti, aspirasyona bağlı asfiksi, perinatal infarkt, konjenital
sitomegalovirüs infeksiyonu, nonketotik hiperglisinemi
ve Prader Willi sendromu saptandı. Psikomotor gelişim
başlangıçta 12 hastada hafif, 13’ünde orta, 13’ünde
ise ağır derecede geriydi ve 12 ay sonunda anlamlı değişim görülmedi. İlk tedavi olarak, 11 hastaya sentetik adrenokortikotropik
hormon, 17’sine vigabatrin, 8’ine levetirasetam
ve 2 olguya valproat başlandı. On iki ay sonunda,
15 hastada tam nöbet kontrolü gözlenirken, 12 hastada
ise %50 ya da daha fazla nöbet sıklığında azalma görüldü.
Kalan 11 olgunun nöbet sıklığında anlamlı değişiklik
yoktu.
Sonuç: En sık perinatal asfiksi olmak üzere pek çok farklı
hastalık West sendromuna neden olabilir. On iki ay süreli
tedavinin, hastaların yaklaşık yarısında nöbet kontrolü
sağlamasına karşın, psikomotor gelişim üzerine belirgin
olumlu etkisi gözlenmedi.

Keywords

West sendromu, vigabatrin, adrenokortikotropik hormon

References

• Lux AL, Osborne JP. A proposal for case definitions and outcome measures in studies of infantile spasms and West syndrome: consensus statement of the West Delphi group. Epilepsia 2004;45:1416-1428.
• Hauser WA. The prevalence and incidence of convulsive disorders in children. Epilepsia 1994;35 Suppl 2:S1-6.
• Trevathan E, Murphy CC, Yeargin-Allsopp M. The descrip- tive epidemiology of infantile spasms among Atlanta chil- dren. Epilepsia 1999;40:748-751.
• Pellock JM, Hrachovy R, Shinnar S, et al. Infantile spasms: a U.S. consensus report. Epilepsia 2010;51:2175-2189.
• Riikonen R. Epidemiological data of West syndrome in Fin- land. Brain Dev 2001;23:539-541.
• Hrachovy RA, Frost JD. Infantile epileptic encephalopathy with hypsarrhythmia (infantile spasms/West syndrome). J Clin Neurophysiol 2003;20:408-425.
• Baram TZ, Mitchell WG, Tournay A, et al. High-dose corti- cotropin (ACTH) versus prednisone for infantile spasms: a prospective, randomized, blinded study. Pediatrics 1996;97:375-379.
• Kossoff EH, Hedderick EF, Turner Z, Freeman JM. A case- control evaluation of the ketogenic diet versus ACTH for new-onset infantile spasms. Epilepsia 2008;49:1504-1509.
• Hrachovy RA, Frost JD, Kellaway P. Hypsarrhythmia: vari- ations on the theme. Epilepsia 1984;25:317-325.
• Zhu X, Chen O, Zhang D, et al. A prospective study on the treatment of infantile spasms with first-line topiramate fol- lowed by low-dose ACTH. Epilepsy Res 2011;93:149-154.
• Kaushik JS, Patra B, Sharma S, et al. Clinical spectrum and treatment outcome of West Syndrome in children from Northern India. Seizure 2013;22:617-621.
• Lagae L, Verhelst H, Ceulemans B, et al. Treatment and long term outcome in West syndrome: the clinical reality. A multicentre follow up study. Seizure 2010;19:159-164.
• Cohen-Sadan S, Kramer U, Ben-Zeev B, et al. Multi- center long-term follow-up of children with idiopathic West syndrome: ACTH versus vigabatrin. Eur J Neurol 2009;16:482-487.
• Osborne JP, Lux AL, Edwards SW, et al. The underlying etiology of infantile spasms (West syndrome): informa- tion from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification. Epilepsia 2010;51:2168-2174.
• Baram TZ. Pathophysiology of massive infantile spasms: perspective on the putative role of the brain adrenal axis. Ann Neurol 1993;33:231-236.
• Fusco L, Vigevano F. Ictal clinical electroencephalo- graphic findings of spasms in West syndrome. Epilepsia 1993;34:671-678.
• Watanabe K, Negoro T, Aso K, Matsumoto A. Reappraisal of interictal electroencephalograms in infantile spasms. Epilepsia 1993;34:679-685.
• Konishi Y, Yasujima M, Kuriyama M, et al. Magnetic reso- nance imaging in infantile spasms: effects of hormonal therapy. Epilepsia 1992;33:304-309.
• Wheless JW, Clarke DF, Arzimanoglou A, Carpenter D. Treatment of pediatric epilepsy: European expert opin- ion, 2007. Epileptic Disord 2007;9:353-412.
• Wheless JW, Clarke DF, Carpenter D. Treatment of pe- diatric epilepsy: expert opinion, 2005. J Child Neurol 2005;20 Suppl 1:1-56.
• Mackay MT, Weiss SK, Adams-Webber T, et al. Practice parameter: medical treatment of infantile spasms: report of the American Academy of Neurology and the Child Neurology Society. Neurology 2004;62:1668-1681.
• Appleton RE, Peters AC, Mumford JP, Shaw DE. Randomised, placebo-controlled study of vigabatrin as first-line treatment of infantile spasms. Epilepsia 1999;40:1627-1633.
• Chiron C, Dumas C, Jambaqué I, et al. Randomized trial comparing vigabatrin and hydrocortisone in infan- tile spasms due to tuberous sclerosis. Epilepsy Res 1997;26:389-395.
• Elterman RD, Shields WD, Mansfield KA, Nakagawa J. Randomized trial of vigabatrin in patients with infantile spasms. Neurology 2001;57:1416-1421.
• Guideline for prescribing vigabatrin in children has been revised. Vigabatrin Paediatric Advisory Group. BMJ 2000;320:1404-1405.
• Kröll-Seger J, Kaminska A, Moutard ML, et al. Severe re- lapse of epilepsy after vigabatrin withdrawal: for how long should we treat symptomatic infantile spasms? Epilepsia 2007;48:612-613.
• Gaily E, Jonsson H, Lappi M. Visual fields at school-age in children treated with vigabatrin in infancy. Epilepsia 2009;50:206-216.
• Willmore LJ, Abelson MB, Ben-Menachem E, et al. Viga- batrin: 2008 update. Epilepsia 2009;50:163-173.
• Conway M, Cubbidge RP, Hosking SL. Visual field sever- ity indices demonstrate dose-dependent visual loss from vigabatrin therapy. Epilepsia 2008;49:108-116.
• Durbin S, Mirabella G, Buncic JR, Westall CA. Reduced grating acuity associated with retinal toxicity in children with infantile spasms on vigabatrin therapy. Invest Oph- thalmol Vis Sci 2009;50:4011-4016.
• Vigevano F, Cilio MR. Vigabatrin versus ACTH as first- line treatment for infantile spasms: a randomized, pro- spective study. Epilepsia 1997;38:1270-1274.
• Dündar NO, Duman Ö, Haspolat Ş. Comparison of ACTH + B6 Combination versus Vigabatrin in Treatment of Infantile Spasms: A Retrospective Study. Epilepsi 2008;14:136-140.
• Darke K, Edwards SW, Hancock E, et al. Developmental and epilepsy outcomes at age 4 years in the UKISS trial comparing hormonal treatments to vigabatrin for infantile spasms: a multi-centre randomised trial. Arch Dis Child 2010;95:382-386.
• Kivity S, Lerman P, Ariel R, et al. Long-term cognitive outcomes of a cohort of children with cryptogenic infantile spasms treated with high-dose adrenocorticotropic hor- mone. Epilepsia 2004;45:255-262.
• Sharma NL, Vishwanthan V. Outcome in West syndrome. Indian Pediatr 2008;45:559-563.