Çocuk Sağlığı ve Hastalıkları Dergisi 2005 , Vol 48 , Num 1
Hyperekplexia in cases and its differential diagnosis with convulsion: report of two cases
Kutluhan Yılmaz1, Burak Tatlı2, Yasemin Buran3, Ahmet Yaramış4 Nur Aydınlı5, Mine Çalışkan6, Meral Özmen6
Gaziantep Üniversitesi Tıp Fakültesi 1Pediatri Yardımcı Doçenti, İstanbul Üniversitesi Tıp Fakültesi 2Pediatri Uzmanı, 3Pediatri Araştırma Görevlisi, 5Pediatri Doçenti, 6Pediatri Profesörü, Dicle Üniversitesi Tıp Fakültesi 4Pediatri Doçenti Yılmaz K, Tatlı B, Buran Y, Yaramış A, Aydınlı N, Çalışkan M, Özmen M. (Department of Pediatrics, İstanbul University İstanbul Medical Faculty, İstanbul, Turkey). Hyperekplexia in cases and its differential diagnosis with convulsion: report of two cases. Çocuk Sağlığı ve Hastalıkları Dergisi 2005; 48: 61-64.

Hyperekplexia (HE) is a benign disease characterized by increased startle response to auditory, tactile and visual stimuli. We report two girls with HE. The patients, at 52 and 21 days of age, were referred to our department with the complaint of seizure onset at the first day of life. For the second case, it was stated that seizure had been refractory to treatment and had no evident etiology. Their medical histories were unremarkable. Physical examination revealed that tactile stimuli yielded generalized myoclonus, which sometimes was persistent as tonic spasms. HE was entertained in the view of clinical and laboratory findings. The symptoms almost fully resolved after clonazepam, and the infants' development was normal in the follow-up. These cases emphasize that nonepileptic events should be considered in the differential diagnosis of convulsions. Performing tactile stimuli would be helpful to elucidate HE in patients with spasms that may be considered as convulsion at first sight. Anahtar Kelimeler : Hiperekpleksia, psödoepilepsi, hyperekplexia, pseudoepilepsy

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