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Geç Tanı Almış Bir Hiperekpleksia Olgusu

Year 2012, Volume: 3 Issue: 1, 33 - 35, 01.01.2012

Abstract

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.

References

  • 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

Year 2012, Volume: 3 Issue: 1, 33 - 35, 01.01.2012

Abstract

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

References

  • 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]
There are 10 citations in total.

Details

Other ID JA77AC63UH
Journal Section Research Article
Authors

Sedat Işıkay This is me

Safinur Koska This is me

Kutluhan Yılmaz This is me

Publication Date January 1, 2012
Submission Date January 1, 2012
Published in Issue Year 2012 Volume: 3 Issue: 1

Cite

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. January 2012;3(1):33-35.
Chicago Işıkay, Sedat, Safinur Koska, and Kutluhan Yılmaz. “A Case of Late Diagnosed Hiperekplexia”. Journal of Emergency Medicine Case Reports 3, no. 1 (January 2012): 33-35.
EndNote Işıkay S, Koska S, Yılmaz K (January 1, 2012) A Case of Late Diagnosed Hiperekplexia. Journal of Emergency Medicine Case Reports 3 1 33–35.
IEEE S. Işıkay, S. Koska, and K. Yılmaz, “A Case of Late Diagnosed Hiperekplexia”, Journal of Emergency Medicine Case Reports, vol. 3, no. 1, pp. 33–35, 2012.
ISNAD Işıkay, Sedat et al. “A Case of Late Diagnosed Hiperekplexia”. Journal of Emergency Medicine Case Reports 3/1 (January 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 et al. “A Case of Late Diagnosed Hiperekplexia”. Journal of Emergency Medicine Case Reports, vol. 3, no. 1, 2012, pp. 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.