Öz
Background: Angelman syndrome (AS) is a genetic disorder with varying degrees of neurological impairment. It is often associated with ocular involvement. Case Report: We present a child diagnosed with AS who had a deletion on the short arm of chromosome 15. The child seemed to be happy, with developmental delay, speech problem, and altering strabismus. To assess the potential presence and degree of damage in the visual pathway, we recorded monocular flash visual evoked potentials (VEPs). Our results revealed the presence of severe central afferent dysfunction in both optical pathways. Conclusion: VEPs can be used in patients with AS and visual disturbances to assess the integrity of the visual system. Turkish Başlık: Angelman Sendromu Olan Bir Hastada Uyarılmış Görsel Potansiyellerin Değerlendirilmesi – Olgu Sunumu Anahtar Kelimeler: Görsel uyarılmış potansiyeller, angelman sendromu, çocuklar. Arka Plan: Angelman sendromu (AS) değişik derecelerde nörolojik bozukluğun bulunduğu bir genetik hastalıktır. Sıklıkla oküler tutulum ile ilişkilidir. Olgu Sunumu: Biz AS teşhisi koyulan ve 15. kromozom kısa kolunda delesyon bulunan bir çocuk sunmaktayız. Gelişimde gecikme, konuşma problemi ve değişici şaşılık yanında çocuk mutlu görünmekteydi. Görsel yolaktaki olası hasarın varlığını ve derecesi değerlendirmek için monookular flaş görsel uyarılmış potansiyelleri (VEP) kaydettik. Bulgularımız her iki optik yolakta şiddetli merkezi aferent disfonksiyonun olduğunu ortaya çıkardı. Sonuç: VEP'ler görsel sistemin sağlamlığını değerlendirmek için AS ve görsel bozuklukları olan hastalarda kullanılabilir.
Anahtar Kelimeler
Kaynakça
- Clayton-Smith J, Laan L. Angelman syndrome:a review of the clinical and genetic aspects. J Med Genet 2003;40:87-95. [CrossRef]
- Camprubí C, Guitart M, Gabau E, Coll MD, Villatoro S, Oltra S, et al. Novel UBE3A mutations causing Angelman syndrome:different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions. Am J Med Genet A 2009;149A:343-8. [CrossRef]
- Guerrini R, Carrozzo R, Rinaldi R, Bonanni P. Angelman syndrome:etiology, clinical features, diagnosis, and management of symptoms. Paediatr Drugs 2003;5:647-61. [CrossRef]
- Williams CA. Neurological aspects of the Angelman syndrome. Brain Dev 2005;27:88-94. [CrossRef]
- García Ramírez M, Csanyi B, Martínez Antón J, Delgado Marqués M, Bauzano Poley E. Genetic and clinical diagnosis of Angelman syndrome. Case Reviews. An Pediatr (Barc) 2008;69:232-8. [CrossRef]
- Dickinson AJ, Fielder AR, Young ID, Duckett DP. Ocular findings in Angelman’s (happy puppet) syndrome. Ophthalmic Paediatr Genet 1990;11:1-6. [CrossRef]
- Pompe MT, Kranjc BS, Brecelj J. Visual evoked potentials to red-green stimulation in schoolchildren. Vis Neurosci 2006;23:447-51. [CrossRef]
- Odom JV, Bach M, Barber C, Brigell M, Marmor MF, Tormene AP, et al. Visual evoked potentials standard (2004). Doc Ophthalmol 2004;108:115-23. [CrossRef]
- Titlic M, Kolic K, Fiorentini F, Josipovic-Jelic Z. Predictive value of assessment of disc-radicular conflict of the cervical segment by somatosensory evoked potentials. Bratisl Lek Listy 2009;110:312-5.
- Scheiffele P, Beg AA. Neuroscience:Angelman syndrome connections. Nature 2010;468:907-8. [CrossRef]
- Greer PL, Hanayama R, Bloodgood BL, Mardinly AR, Lipton DM, Flavell SW, et al. The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc. Cell 2010;140:704-16. [CrossRef] 243 Balkan Med J 2013; 30: 242-3 Knezevic et al.
- Visual Evoked Potential and Angelman Syndrome Figure 1. Visual evoked potentials charts for the left and right eyes Figure 2. Latency and amplitude parameters for visual evoked potentials
Öz
Kaynakça
- Clayton-Smith J, Laan L. Angelman syndrome:a review of the clinical and genetic aspects. J Med Genet 2003;40:87-95. [CrossRef]
- Camprubí C, Guitart M, Gabau E, Coll MD, Villatoro S, Oltra S, et al. Novel UBE3A mutations causing Angelman syndrome:different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions. Am J Med Genet A 2009;149A:343-8. [CrossRef]
- Guerrini R, Carrozzo R, Rinaldi R, Bonanni P. Angelman syndrome:etiology, clinical features, diagnosis, and management of symptoms. Paediatr Drugs 2003;5:647-61. [CrossRef]
- Williams CA. Neurological aspects of the Angelman syndrome. Brain Dev 2005;27:88-94. [CrossRef]
- García Ramírez M, Csanyi B, Martínez Antón J, Delgado Marqués M, Bauzano Poley E. Genetic and clinical diagnosis of Angelman syndrome. Case Reviews. An Pediatr (Barc) 2008;69:232-8. [CrossRef]
- Dickinson AJ, Fielder AR, Young ID, Duckett DP. Ocular findings in Angelman’s (happy puppet) syndrome. Ophthalmic Paediatr Genet 1990;11:1-6. [CrossRef]
- Pompe MT, Kranjc BS, Brecelj J. Visual evoked potentials to red-green stimulation in schoolchildren. Vis Neurosci 2006;23:447-51. [CrossRef]
- Odom JV, Bach M, Barber C, Brigell M, Marmor MF, Tormene AP, et al. Visual evoked potentials standard (2004). Doc Ophthalmol 2004;108:115-23. [CrossRef]
- Titlic M, Kolic K, Fiorentini F, Josipovic-Jelic Z. Predictive value of assessment of disc-radicular conflict of the cervical segment by somatosensory evoked potentials. Bratisl Lek Listy 2009;110:312-5.
- Scheiffele P, Beg AA. Neuroscience:Angelman syndrome connections. Nature 2010;468:907-8. [CrossRef]
- Greer PL, Hanayama R, Bloodgood BL, Mardinly AR, Lipton DM, Flavell SW, et al. The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc. Cell 2010;140:704-16. [CrossRef] 243 Balkan Med J 2013; 30: 242-3 Knezevic et al.
- Visual Evoked Potential and Angelman Syndrome Figure 1. Visual evoked potentials charts for the left and right eyes Figure 2. Latency and amplitude parameters for visual evoked potentials
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Konular | Sağlık Kurumları Yönetimi |
| Bölüm | Makaleler |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Şubat 2013 |
| Yayımlandığı Sayı | Yıl 2013 |