Abstract
Polimikrogri, nispeten sık görülen gelişimsel kortikal malformasyonlardandır. Polimikrogrinin en sık görüldüğü yer perisilvian bölgedir. Bilateral perisilvian polimikrogri genellikle epilepsi, psödobulbar palsi ve bilişsel bozukluklarla karakterize bir sendromdur. Vakaların bir kısmında artrogripozis bildirilmiştir. Burada kongenital arthrogripozis ile birliktelik gösteren bilateral perisilvian polimikrogri sendromlu olgu bu birlikteliğe dikkat çekmek amacıyla sunulmuştur.
Keywords
References
- Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, et al. Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1,4q21.21-q22.1,6q26- q27,and 21q2. Am J Med Genet A 2008;146A:1637-54.
- Barkovich AJ, Hevner R, Guerrini R. Syndromes of bilateral symmetrical polymicrogyria. AJNR Am J Neuroradiol 1999;20: 1814-21.
- Kuzniecky R, Andermann F, Guerrini R. Congenital bilateral perisylvian syndrome: Study of 31 patients. The CBPS Multicenter Collaborative Study. Lancet 1993;341:608-12.
- Yıldırım H, Koç M, Poyraz K, Ogur E, Kabakuş N. Congenital Bilateral Perisylvian Syndrome: Differential Diagnosis. Turkiye Klinikleri J Med Sci 2008;28:419-21.
Abstract
Polymicrogria is a relatively common malformation of cortical development. The perisylvian region is the most common location of the polymicrogria. Bilateral perisylvian polymicrogria is a syndrome characterized by epilepsy, pseudobulbar palsy and cognitive impairment. Arthrogryposis has been reported in the minority of the cases. Here, a case with bilateral perisylvian polymicrogria syndrome associated with congenital arthrogryposis is presented to draw attention to this unity
Keywords
References
- Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, et al. Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1,4q21.21-q22.1,6q26- q27,and 21q2. Am J Med Genet A 2008;146A:1637-54.
- Barkovich AJ, Hevner R, Guerrini R. Syndromes of bilateral symmetrical polymicrogyria. AJNR Am J Neuroradiol 1999;20: 1814-21.
- Kuzniecky R, Andermann F, Guerrini R. Congenital bilateral perisylvian syndrome: Study of 31 patients. The CBPS Multicenter Collaborative Study. Lancet 1993;341:608-12.
- Yıldırım H, Koç M, Poyraz K, Ogur E, Kabakuş N. Congenital Bilateral Perisylvian Syndrome: Differential Diagnosis. Turkiye Klinikleri J Med Sci 2008;28:419-21.
Details
| Other ID | JA46NB29BJ |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | April 1, 2013 |
| Submission Date | April 1, 2013 |
| Published in Issue | Year 2013 Volume: 7 Issue: 1 |
The publication language of Turkish Journal of Pediatric Disease is English.
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