Case Report
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Aicardi Sendromlu Kardeşler: Olgu Sunumu

Year 2019, Volume: 46 Issue: 3, 603 - 608, 16.09.2019

Veysel Kaplanoğlu Hatice Kaplanoğlu , Havva Akmaz Ünlü

https://doi.org/10.5798/dicletip.620675

Abstract

Aicardi sendromu infantil spazm, korpus kallozum agenezisi, koryoretinallakün başta olmak üzere oküler anormalliklerve motor mentalretardasyonla karakterize ciddi doğumsal bir sendromdur. Hastalığın tanısı klinik bulgular ile konulmaktadır. Elektroensefalografi, manyetik rezonans görüntüleme bulguları ve oftalmolojik muayene tanıda yardımcıdır.
Aicardi sendromlu hastalarda genellikle ilk sorun nöbet ve motor-mental retardasyon olarak karşımıza çıkmaktadır. Bu çalışmada akraba evliliği sonucunda dünyaya gelen, motor-mental retardasyon, göz bulgularının, korpus kallozum hipoplazisi, interventriküler kistin izlendiği Aicardi sendromu tanısı alan iki kardeş olgu sunulmuştur.

Keywords

Aicardi sendromu korpus kallozum agenezisi; göz anomalileri

References

  • 1. Banerjee TK, Chattopadhyay A, Manglik AK, et all. Aicardisyndrome: a report of fiveIndiancases. NeurolIndia. 2006; 54: 91-93.
  • 2. Aicardi J. Aicardisyndrome. Brain Dev. 2005; 27: 164-71.
  • 3. Aicardi J. Aicardisyndrome: oldandnewfindings. Int Pediatr. 1999; 14: 5-9.
  • 4. Kroner BL, Preiss LR, Ardini MA, et all. New incidence, prevalence, andsurvival of Aicardisyndromefrom 408 cases. J Child Neurol. 2008; 23: 531-5.
  • 5. Aicardi J, Lefebvre J, Lerique-Koechlin A.A newsyndrome: spasm in flexion, callosalagenesis, ocularabnormalities. ElectroencephalogrClinNeurophysiol. 1965; 19: 60910.
  • 6. Crow YJ, Hayward BE, Parmar R, et all. Mutations in the gene encodingthe 3'-5' DNA exonuclease TREX1 causeAicardi-Goutie`ressyndrome at the AGS1 locus. NatGenet. 2006; 38: 917–20.
  • 7. Crow YJ, Leitch A,Hayward BE, et all .Mutations in genesencodingribonuclease H2 subunitscauseAicardi-Goutie`ressyndromeandmimiccongenitalviralbraininfection. NatGenet.2006; 38: 910– 16.
  • 8. Aicardi J. Aicardi-Goutie`ressyndrome: specialtypeearlyonsetencephalopathy. Eur J PaediatrNeurol. 2002; 69: A1–A7.
  • 9. D’Arrigo S, Riva D, Bulgheroni S, et all. Aicardi–Goutie`ressyndrome: description of a lateonsetcase. Dev Med Child Neurol. 2008; 50: 631–4.
  • 10. Sutton VR, Hopkins BJ, Eble TN, et all. Facialandphysicalfeatures of Aicardisyndrome: infantstoteenagers. Am J MedGenet A. 2005; 138A: 254-8.
  • 11. Fruhman G, Eble TN, Gambhir N, et all. Ophthalmologicfindings in Aicardisyndrome. J AAPOS. 2012; 16: 238-41.
  • 12. Rosser TL, Acosta MT, Packer RJ. Aicardisyndrome: spectrum of diseaseandlong-termprognosis in 77 females. Pediatr Neurol. 2002; 27: 343-6.
  • 13. Grosso S, Lasorellab G, Russo A, et all. Aicardisyndromewithfavorableoutcome: casereportandreview. Brain Dev. 2007; 29: 443-6.

Year 2019, Volume: 46 Issue: 3, 603 - 608, 16.09.2019

Veysel Kaplanoğlu Hatice Kaplanoğlu , Havva Akmaz Ünlü

https://doi.org/10.5798/dicletip.620675

Abstract

References

  • 1. Banerjee TK, Chattopadhyay A, Manglik AK, et all. Aicardisyndrome: a report of fiveIndiancases. NeurolIndia. 2006; 54: 91-93.
  • 2. Aicardi J. Aicardisyndrome. Brain Dev. 2005; 27: 164-71.
  • 3. Aicardi J. Aicardisyndrome: oldandnewfindings. Int Pediatr. 1999; 14: 5-9.
  • 4. Kroner BL, Preiss LR, Ardini MA, et all. New incidence, prevalence, andsurvival of Aicardisyndromefrom 408 cases. J Child Neurol. 2008; 23: 531-5.
  • 5. Aicardi J, Lefebvre J, Lerique-Koechlin A.A newsyndrome: spasm in flexion, callosalagenesis, ocularabnormalities. ElectroencephalogrClinNeurophysiol. 1965; 19: 60910.
  • 6. Crow YJ, Hayward BE, Parmar R, et all. Mutations in the gene encodingthe 3'-5' DNA exonuclease TREX1 causeAicardi-Goutie`ressyndrome at the AGS1 locus. NatGenet. 2006; 38: 917–20.
  • 7. Crow YJ, Leitch A,Hayward BE, et all .Mutations in genesencodingribonuclease H2 subunitscauseAicardi-Goutie`ressyndromeandmimiccongenitalviralbraininfection. NatGenet.2006; 38: 910– 16.
  • 8. Aicardi J. Aicardi-Goutie`ressyndrome: specialtypeearlyonsetencephalopathy. Eur J PaediatrNeurol. 2002; 69: A1–A7.
  • 9. D’Arrigo S, Riva D, Bulgheroni S, et all. Aicardi–Goutie`ressyndrome: description of a lateonsetcase. Dev Med Child Neurol. 2008; 50: 631–4.
  • 10. Sutton VR, Hopkins BJ, Eble TN, et all. Facialandphysicalfeatures of Aicardisyndrome: infantstoteenagers. Am J MedGenet A. 2005; 138A: 254-8.
  • 11. Fruhman G, Eble TN, Gambhir N, et all. Ophthalmologicfindings in Aicardisyndrome. J AAPOS. 2012; 16: 238-41.
  • 12. Rosser TL, Acosta MT, Packer RJ. Aicardisyndrome: spectrum of diseaseandlong-termprognosis in 77 females. Pediatr Neurol. 2002; 27: 343-6.
  • 13. Grosso S, Lasorellab G, Russo A, et all. Aicardisyndromewithfavorableoutcome: casereportandreview. Brain Dev. 2007; 29: 443-6.
There are 13 citations in total.

Details

Primary Language English
Subjects Health Care Administration
Journal Section Case Reports
Authors

Veysel Kaplanoğlu This is me 0000-0002-1376-0469

Hatice Kaplanoğlu 0000-0003-1874-8167

Havva Akmaz Ünlü This is me 0000-0002-0291-3589

Publication Date September 16, 2019
Submission Date March 19, 2019
Published in Issue Year 2019 Volume: 46 Issue: 3

Cite

APA Kaplanoğlu, V., Kaplanoğlu, H., & Ünlü, H. A. (2019). Aicardi Sendromlu Kardeşler: Olgu Sunumu. Dicle Medical Journal, 46(3), 603-608. https://doi.org/10.5798/dicletip.620675
AMA Kaplanoğlu V, Kaplanoğlu H, Ünlü HA. Aicardi Sendromlu Kardeşler: Olgu Sunumu. diclemedj. September 2019;46(3):603-608. doi:10.5798/dicletip.620675
Chicago Kaplanoğlu, Veysel, Hatice Kaplanoğlu, and Havva Akmaz Ünlü. “Aicardi Sendromlu Kardeşler: Olgu Sunumu”. Dicle Medical Journal 46, no. 3 (September 2019): 603-8. https://doi.org/10.5798/dicletip.620675.
EndNote Kaplanoğlu V, Kaplanoğlu H, Ünlü HA (September 1, 2019) Aicardi Sendromlu Kardeşler: Olgu Sunumu. Dicle Medical Journal 46 3 603–608.
IEEE V. Kaplanoğlu, H. Kaplanoğlu, and H. A. Ünlü, “Aicardi Sendromlu Kardeşler: Olgu Sunumu”, diclemedj, vol. 46, no. 3, pp. 603–608, 2019, doi: 10.5798/dicletip.620675.
ISNAD Kaplanoğlu, Veysel et al. “Aicardi Sendromlu Kardeşler: Olgu Sunumu”. Dicle Medical Journal 46/3 (September 2019), 603-608. https://doi.org/10.5798/dicletip.620675.
JAMA Kaplanoğlu V, Kaplanoğlu H, Ünlü HA. Aicardi Sendromlu Kardeşler: Olgu Sunumu. diclemedj. 2019;46:603–608.
MLA Kaplanoğlu, Veysel et al. “Aicardi Sendromlu Kardeşler: Olgu Sunumu”. Dicle Medical Journal, vol. 46, no. 3, 2019, pp. 603-8, doi:10.5798/dicletip.620675.
Vancouver Kaplanoğlu V, Kaplanoğlu H, Ünlü HA. Aicardi Sendromlu Kardeşler: Olgu Sunumu. diclemedj. 2019;46(3):603-8.