BibTex RIS Kaynak Göster

Geç Tanı Almış Bir Hiperekpleksia Olgusu

Yıl 2012, Cilt: 3 Sayı: 1, 33 - 35, 01.01.2012

Öz

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.

Kaynakça

  • 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]

A Case of Late Diagnosed Hiperekplexia

Yıl 2012, Cilt: 3 Sayı: 1, 33 - 35, 01.01.2012

Öz

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

Kaynakça

  • 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]
Toplam 10 adet kaynakça vardır.

Ayrıntılar

Diğer ID JA77AC63UH
Bölüm Araştırma Makalesi
Yazarlar

Sedat Işıkay Bu kişi benim

Safinur Koska Bu kişi benim

Kutluhan Yılmaz Bu kişi benim

Yayımlanma Tarihi 1 Ocak 2012
Gönderilme Tarihi 1 Ocak 2012
Yayımlandığı Sayı Yıl 2012 Cilt: 3 Sayı: 1

Kaynak Göster

APA Işıkay, S., Koska, S., & Yılmaz, K. (2012). A Case of Late Diagnosed Hiperekplexia. Journal of Emergency Medicine Case Reports, 3(1), 33-35.
AMA Işıkay S, Koska S, Yılmaz K. A Case of Late Diagnosed Hiperekplexia. Journal of Emergency Medicine Case Reports. Ocak 2012;3(1):33-35.
Chicago Işıkay, Sedat, Safinur Koska, ve Kutluhan Yılmaz. “A Case of Late Diagnosed Hiperekplexia”. Journal of Emergency Medicine Case Reports 3, sy. 1 (Ocak 2012): 33-35.
EndNote Işıkay S, Koska S, Yılmaz K (01 Ocak 2012) A Case of Late Diagnosed Hiperekplexia. Journal of Emergency Medicine Case Reports 3 1 33–35.
IEEE S. Işıkay, S. Koska, ve K. Yılmaz, “A Case of Late Diagnosed Hiperekplexia”, Journal of Emergency Medicine Case Reports, c. 3, sy. 1, ss. 33–35, 2012.
ISNAD Işıkay, Sedat vd. “A Case of Late Diagnosed Hiperekplexia”. Journal of Emergency Medicine Case Reports 3/1 (Ocak 2012), 33-35.
JAMA Işıkay S, Koska S, Yılmaz K. A Case of Late Diagnosed Hiperekplexia. Journal of Emergency Medicine Case Reports. 2012;3:33–35.
MLA Işıkay, Sedat vd. “A Case of Late Diagnosed Hiperekplexia”. Journal of Emergency Medicine Case Reports, c. 3, sy. 1, 2012, ss. 33-35.
Vancouver Işıkay S, Koska S, Yılmaz K. A Case of Late Diagnosed Hiperekplexia. Journal of Emergency Medicine Case Reports. 2012;3(1):33-5.