West syndrome: Clinical characteristics and short-term outcome

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

Öz

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.

Anahtar Kelimeler

• West sendromu, vigabatrin, adrenokortikotropik hormon

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