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Yenidoğanda Nonepileptik Paroksismal Olay

Year 2015, , 111 - 113, 01.07.2015

Abdurrahman Avar Özdemir Ali Aydın

https://doi.org/10.5222/j.child.2015.111

Abstract

Uyaranlara karşı aşırı irkilme yanıtı ile karakterize bir hastalık olan hiperekpleksiya santral sinir sisteminde inhi- bitör bir transmitter olan glisinin etkisinin ortadan kalması sonucu ortaya çıkmaktadır. En sık otozomal dominant kalı- tımın görüldüğü bu hastalıkta ataklar sırasında bilinç açıktır. Bu makalede kasılma ve beslenirken tıkanma yakın- ması ile polikliniğe getirilen ve konvülziyon ön tanısı ile yatırılarak takibi yapılan 20 günlük erkek bebek sunulmak- tadır. Muayenesinde dokunma ile abartılı irkilme ve kasıl- ma hareketlerinin başladığı ve ataklar sırasında bilinç değişikliğinin olmadığı saptanan hastaya hiperekpleksiya tanısı konuldu ve klonazepam tedavisi başlandı. Bu vaka ile yenidoğan döneminde konvülziyon ayırıcı tanısında unutul- maması gereken paroksismal hareket bozuklukları hatırla- tılmaktadır

Keywords

Hiperekpleksiya konvülziyon yenidoğan

References

  • dreissen Y, Tijssen mA. The startle syndromes: Physiology and treatment. Epilepsia 2012;53:3-11. http://dx.doi.org/10.1111/j.1528-1167.2012.03709.x
  • Praveen V, Patole SK, Whitehall JS. Hyperekplexia in neonates. Postgrad Med J 2001;77:570-72. http://dx.doi.org/10.1136/pmj.77.911.570
  • Freilinger m, Jalowetz S, reiter e, Schubert mT, Seidl r. Hyperekplexia- a treatable neuropediatric disease. Klin Padiatr 2005;217:220-1. http://dx.doi.org/10.1055/s-2004-820286
  • Bode A, Lynch JW. The impact of human hyperekple- xia mutations on glycine receptor structure and functi- on. Molecular Brain 2014;7:2. http://dx.doi.org/10.1186/1756-6606-7-2
  • Horvath e, Farkas K, Herczegfalvi A, Nagy1 N, Szell m. Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report. Journal of Medical Case Reports 2014;8:233. http://dx.doi.org/10.1186/1752-1947-8-233
  • Gimenez C, zafra F, Lopez-Corcuera B, Aragon C. Molecular bases of hereditary hyperekplexia. Rev Neurol 2008;47:648-52.
  • ışıkay S, Yılmaz K, Koska S. Geç tanı almış bir hipe- rekpleksia vakası. AKATOS 2012;3:33-5.
  • Hamelin S, rohr P, Kahane P, minotti L, Vercueil L. Late onset hyperekplexia. Epileptic Disorders 2004;6: 169-72.
  • Tijssen mA, Vergouwe mN, van dijk JG, rees m, Frants rr, Brown P. Major and minor form of here- ditary hyperekplexia. Mov Disord 2002;17:826-30. http://dx.doi.org/10.1002/mds.10168
  • ertuğrul S, Aydın m. Epileptik olmayan paroksismal bozukluklar. Güncel Pediatri 2005;3:90-4.
  • Yılmaz K, Tatlı B, Buran Y, Yaramış A, Aydınlı N, Çalışkan m. Konvülsiyon ayırıcı tanısına hiperekplek- sia: İki vakanın takdimi. Çocuk Sağlığı ve Hastalıkları Dergisi 2005;48:61-4.
  • mineyko A, Whiting S, Graham Ge. Hyperekplexia: Treatment of a severe phenotype and review of the literature can. J Neurol Sci 2011;38:411-6. http://dx.doi.org/10.1017/S0317167100011793
  • J. Akhoondian J, Jafarzadeh m, Parizadeh mJ. Hyperekplexia and excessive startle response in an infant: a case report. MJIRI 2004;18:91-3.
  • zhou L, Chillag KL, Nigro mA. Hyperekplexia: a tre- atable neurogenetic disease. Brain Dev 2002;24:669-74. http://dx.doi.org/10.1016/S0387-7604(02)00095-5

Nonepileptic Paroxysmal Event in Newborn

Year 2015, , 111 - 113, 01.07.2015

Abdurrahman Avar Özdemir Ali Aydın

https://doi.org/10.5222/j.child.2015.111

Abstract

Hyperekplexia which is characterized by increased startle res- ponse to stimuli emerges as a result of the elimination of the effects of glycine which is an inhibitory transmitter in the central nervous system. The conscious is open during attacks and the mode of inheritance is mostly autosomal dominant. Herein, we report a case of a 20 day- old male infant who was brought into the outpatient clinic with the complaints of seizures and choking during feeding and followed up as an inpatient with the initial diagnosis of convulsion Physical examination revealed that tactile stimuli induced exaggerated jerking, and convulsive movements and his consciousness was not altered during attacks. Thus, the patient was diagnosed as hyperekplexia and clonazepam treatment was started. This case reminds us that that paroxysmal movement disorders should not be forgotten in the differential diagnosis of convulsions

Keywords

Hyperekplexia convulsion neonatal

References

  • dreissen Y, Tijssen mA. The startle syndromes: Physiology and treatment. Epilepsia 2012;53:3-11. http://dx.doi.org/10.1111/j.1528-1167.2012.03709.x
  • Praveen V, Patole SK, Whitehall JS. Hyperekplexia in neonates. Postgrad Med J 2001;77:570-72. http://dx.doi.org/10.1136/pmj.77.911.570
  • Freilinger m, Jalowetz S, reiter e, Schubert mT, Seidl r. Hyperekplexia- a treatable neuropediatric disease. Klin Padiatr 2005;217:220-1. http://dx.doi.org/10.1055/s-2004-820286
  • Bode A, Lynch JW. The impact of human hyperekple- xia mutations on glycine receptor structure and functi- on. Molecular Brain 2014;7:2. http://dx.doi.org/10.1186/1756-6606-7-2
  • Horvath e, Farkas K, Herczegfalvi A, Nagy1 N, Szell m. Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report. Journal of Medical Case Reports 2014;8:233. http://dx.doi.org/10.1186/1752-1947-8-233
  • Gimenez C, zafra F, Lopez-Corcuera B, Aragon C. Molecular bases of hereditary hyperekplexia. Rev Neurol 2008;47:648-52.
  • ışıkay S, Yılmaz K, Koska S. Geç tanı almış bir hipe- rekpleksia vakası. AKATOS 2012;3:33-5.
  • Hamelin S, rohr P, Kahane P, minotti L, Vercueil L. Late onset hyperekplexia. Epileptic Disorders 2004;6: 169-72.
  • Tijssen mA, Vergouwe mN, van dijk JG, rees m, Frants rr, Brown P. Major and minor form of here- ditary hyperekplexia. Mov Disord 2002;17:826-30. http://dx.doi.org/10.1002/mds.10168
  • ertuğrul S, Aydın m. Epileptik olmayan paroksismal bozukluklar. Güncel Pediatri 2005;3:90-4.
  • Yılmaz K, Tatlı B, Buran Y, Yaramış A, Aydınlı N, Çalışkan m. Konvülsiyon ayırıcı tanısına hiperekplek- sia: İki vakanın takdimi. Çocuk Sağlığı ve Hastalıkları Dergisi 2005;48:61-4.
  • mineyko A, Whiting S, Graham Ge. Hyperekplexia: Treatment of a severe phenotype and review of the literature can. J Neurol Sci 2011;38:411-6. http://dx.doi.org/10.1017/S0317167100011793
  • J. Akhoondian J, Jafarzadeh m, Parizadeh mJ. Hyperekplexia and excessive startle response in an infant: a case report. MJIRI 2004;18:91-3.
  • zhou L, Chillag KL, Nigro mA. Hyperekplexia: a tre- atable neurogenetic disease. Brain Dev 2002;24:669-74. http://dx.doi.org/10.1016/S0387-7604(02)00095-5
There are 14 citations in total.

Details

Primary Language Turkish
Journal Section Research Articles
Authors

Abdurrahman Avar Özdemir This is me

Ali Aydın This is me

Publication Date July 1, 2015
Published in Issue Year 2015

Cite

APA Avar Özdemir, A., & Aydın, A. (2015). Yenidoğanda Nonepileptik Paroksismal Olay. Journal of Child, 15(3), 111-113. https://doi.org/10.5222/j.child.2015.111
AMA Avar Özdemir A, Aydın A. Yenidoğanda Nonepileptik Paroksismal Olay. Journal of Child. July 2015;15(3):111-113. doi:10.5222/j.child.2015.111
Chicago Avar Özdemir, Abdurrahman, and Ali Aydın. “Yenidoğanda Nonepileptik Paroksismal Olay”. Journal of Child 15, no. 3 (July 2015): 111-13. https://doi.org/10.5222/j.child.2015.111.
EndNote Avar Özdemir A, Aydın A (July 1, 2015) Yenidoğanda Nonepileptik Paroksismal Olay. Journal of Child 15 3 111–113.
IEEE A. Avar Özdemir and A. Aydın, “Yenidoğanda Nonepileptik Paroksismal Olay”, Journal of Child, vol. 15, no. 3, pp. 111–113, 2015, doi: 10.5222/j.child.2015.111.
ISNAD Avar Özdemir, Abdurrahman - Aydın, Ali. “Yenidoğanda Nonepileptik Paroksismal Olay”. Journal of Child 15/3 (July 2015), 111-113. https://doi.org/10.5222/j.child.2015.111.
JAMA Avar Özdemir A, Aydın A. Yenidoğanda Nonepileptik Paroksismal Olay. Journal of Child. 2015;15:111–113.
MLA Avar Özdemir, Abdurrahman and Ali Aydın. “Yenidoğanda Nonepileptik Paroksismal Olay”. Journal of Child, vol. 15, no. 3, 2015, pp. 111-3, doi:10.5222/j.child.2015.111.
Vancouver Avar Özdemir A, Aydın A. Yenidoğanda Nonepileptik Paroksismal Olay. Journal of Child. 2015;15(3):111-3.