Yıl 2012, Cilt 3 , Sayı 1, Sayfalar 33 - 35 2012-01-01

A Case of Late Diagnosed Hiperekplexia
Geç Tanı Almış Bir Hiperekpleksia Olgusu

Sedat Işıkay [1] , Safinur Koska [2] , Kutluhan Yılmaz [3]


Nonepileptic events are common in children, and may be difficult to distinguish from epileptic events. Hyperekplexia is a rare nonepileptic event characterized by an exaggerated persistent startle reaction to unexpected auditory, somatosensory and visual stimuli, generalized muscular rigidity, and nocturnal myoclonus. In most instances, the clinical history and an age-based approach leads to the diagnosis, and ancillary testing serves as confirmation. A 10-year-old girl was referred to our department with the complaint of seizure and cranial trauma. Her physical examination revealed that tactile stimuli yielded myoclonic jerks. HE was entertained in view of the clinical and laboratory findings. The symptoms almost fully resolved after clonazepam in the followup. This case emphasizes that nonepileptic events should be considered in the differential diagnosis of convulsions
Nonepileptic events are common in children, and may be difficult to distinguish from epileptic events. Hyperekplexia is a rare nonepileptic event characterized by an exaggerated persistent startle reaction to unexpected auditory, somatosensory and visual stimuli, generalized muscular rigidity, and nocturnal myoclonus. In most instances, the clinical history and an age-based approach leads to the diagnosis, and ancillary testing serves as confirmation. A 10-year-old girl was referred to our department with the complaint of seizure and cranial trauma. Her physical examination revealed that tactile stimuli yielded myoclonic jerks. HE was entertained in view of the clinical and laboratory findings. The symptoms almost fully resolved after clonazepam in the follow-up. This case emphasizes that nonepileptic events should be considered in the differential diagnosis of convulsions.
  • Fenichel GM. Paroxysmal disorders. In Fenichel GM, Editor. Clin- ical Pediatric Neurology: A Signs and Symptoms Approach. 6th ed. Philadelphia: Elsevier Saunders; 2009. p.1-48.
  • Yılmaz K, Tatlı B, Buran Y, Yaramış A, Aydınlı N, Çalışkan M, et al. Konvülsiyon ayırıcı tanısına hi-perekpleksia: İki vakanın tak- dimi. Çocuk Sağlığı ve Hastalıkları Dergisi. 2005; 48: 61-4.
  • Zhou L, Chillag KL, Nigro MA. Hyperekplexia: a treatable neuro- genetic disease. Brain Dev. 2002; 24: 669-74. [CrossRef]
  • Tijssen MA, Vergouwe MN, van Dijk JG, Rees M, Frants RR, Brown P. Major and minor form of hereditary hyperekplexia. Mov Disord. 2002; 17: 826-30. [CrossRef]
  • Goraya JS, Shah D, Poddar B. Hyperekplexia in a girl with posterior fossa malformations. J Child Neurol. 2002; 17: 147-9. [CrossRef]
  • Ruprecht K, Warmuth-Metz M, Waespe W, Gold R. Symptomat- ic hyperekplexia in a patient with multiple sclerosis. Neurology. 2002; 58: 503-4.
  • Hamelin S, Rohr P, Kahane P, Minotti L, Vercueil L. Late onset hyperekplexia. Epileptic Disord. 2004; 6: 169-72.
  • De Koning-Tijssen MAJ, Rees MI. Hyperekplexia. In Pagon RA, Bird TC, Dolan CR, Stephens K, Edi-tors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; p.1993-2007.
  • Kurczynski TW. Hyperekplexia. Arch Neurol. 1983; 40: 246-8. [CrossRef]
  • Oral R, Can D, Kaplan S, Polat S, Ates N, Cetin G. Child abuse in Turkey: an experience in overco-ming denial and a description of 50 cases. Child Abuse Negl. 2001; 25: 279-90. [CrossRef]
Diğer ID JA77AC63UH
Bölüm Araştırma Makalesi
Yazarlar

Yazar: Sedat Işıkay
Kurum: Gaziantep Üniversitesi Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Gaziantep

Yazar: Safinur Koska
Kurum: Gaziantep Üniversitesi Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Gaziantep

Yazar: Kutluhan Yılmaz
Kurum: Gaziantep Üniversitesi Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Gaziantep

Tarihler

Yayımlanma Tarihi : 1 Ocak 2012

Bibtex @ { jemcr535310, journal = {Journal of Emergency Medicine Case Reports}, issn = {}, eissn = {2149-9934}, address = {Yukarı Ayrancı Güleryüz Sk. No: 26/19 06550 Çankaya-Ankara, Turkey}, publisher = {Acil Tıp Uzmanları Derneği}, year = {2012}, volume = {3}, pages = {33 - 35}, doi = {}, title = {A Case of Late Diagnosed Hiperekplexia}, key = {cite}, author = {Işıkay, Sedat and Koska, Safinur and Yılmaz, Kutluhan} }
APA Işıkay, S , Koska, S , Yılmaz, K . (2012). A Case of Late Diagnosed Hiperekplexia. Journal of Emergency Medicine Case Reports , 3 (1) , 33-35 . Retrieved from https://dergipark.org.tr/tr/pub/jemcr/issue/43651/535310
MLA Işıkay, S , Koska, S , Yılmaz, K . "A Case of Late Diagnosed Hiperekplexia". Journal of Emergency Medicine Case Reports 3 (2012 ): 33-35 <https://dergipark.org.tr/tr/pub/jemcr/issue/43651/535310>
Chicago Işıkay, S , Koska, S , Yılmaz, K . "A Case of Late Diagnosed Hiperekplexia". Journal of Emergency Medicine Case Reports 3 (2012 ): 33-35
RIS TY - JOUR T1 - A Case of Late Diagnosed Hiperekplexia AU - Sedat Işıkay , Safinur Koska , Kutluhan Yılmaz Y1 - 2012 PY - 2012 N1 - DO - T2 - Journal of Emergency Medicine Case Reports JF - Journal JO - JOR SP - 33 EP - 35 VL - 3 IS - 1 SN - -2149-9934 M3 - UR - Y2 - 2019 ER -
EndNote %0 Journal of Emergency Medicine Case Reports A Case of Late Diagnosed Hiperekplexia %A Sedat Işıkay , Safinur Koska , Kutluhan Yılmaz %T A Case of Late Diagnosed Hiperekplexia %D 2012 %J Journal of Emergency Medicine Case Reports %P -2149-9934 %V 3 %N 1 %R %U
ISNAD Işıkay, Sedat , Koska, Safinur , Yılmaz, Kutluhan . "A Case of Late Diagnosed Hiperekplexia". Journal of Emergency Medicine Case Reports 3 / 1 (Ocak 2012): 33-35 .
AMA Işıkay S , Koska S , Yılmaz K . A Case of Late Diagnosed Hiperekplexia. Journal of Emergency Medicine Case Reports. 2012; 3(1): 33-35.
Vancouver Işıkay S , Koska S , Yılmaz K . A Case of Late Diagnosed Hiperekplexia. Journal of Emergency Medicine Case Reports. 2012; 3(1): 35-33.