You are here

Home » Content

Glutarik asidüri tip 1 nedeniyle izlenen bir olguda gelişen serabral venöz tromboz

Cerabral venous trombosis during follow up of a case with glutaric aciduria type 1

Journal Name:

  • Abant Tıp Dergisi

Publication Year:

  • 2013

Key Words:

Keywords (Original Language):

Author NameUniversity of AuthorFaculty of Author
Abstract (2. Language): 
Cerebral venous sinus thrombosis is a challenging condition because of its diversity of clinical symptoms and signs. Diagnosis is not easy at first presentation. All age groups can be affected. Large sinuses such as the superior sagittal sinus are most frequently involved. Systemic inflammatory diseases, inherited and acquired coagulation disorders are frequent causes, although in up to 20-30% of cases no underlying cause can be identified. Here, we present glutaric aciduria type 1 in a 9-years-old girl with cerebral venous thrombosis.
Bookmark/Search this post with
Abstract (Original Language): 
Serebral venöz tromboz, klinik semptom ve bulgularının çeşitliliği nedeniyle ilginç ve zor bir hastalıktır. Her yaşta görülebilen bir hastalıktır. Başlangıç aşamasında tanı koymak zordur. En sık etkilenen sinüsler, superior sagittal sinüs gibi büyük sinüslerdir. Sistemik inflamatuar hastalıklar, kalıtsal ve edinsel koagülasyon bozuklukları en sık gözlenen etiyolojik nedenlerdir. Yaklaşık % 20-30 olguda neden tespit edilemez. Glutarik asidüri tip 1 nedeniyle takip edilen çocuk hastanın norolojik defisiti gelişmesi nedeni ile yapılan incelemelerde serabral venöz sinüs trombozu tespit edilmişdir.
FULL TEXT (PDF): 
PDF icon arastirmax-glutarik-asiduri-tip-1-nedeniyle-izlenen-bir-olguda-gelisen-serabral-venoz-tromboz.pdf
  • 3
232
234
  • Turkish

REFERENCES

References: 

1. Yüksel D, Şahin M, Yavuz Gürer Y.K İki taraflı temporal araknoid kistler ve glütarik asidüri tip 1. Türk Pediatri Arşivi 2008; 43(3);102-104.
2. Lindner M, Kölker S, Schulze A, Christensen E, Greenberg CR, Hoffmann GF. Neonatal screening for glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2004; 27: 851–859.
3. Morton DH, Bennet MJ, Seargeant LE, et al. Glutaric aciduria type 1: a common cause of episodic ensephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania. Am J Genet 1991; 41: 89-95.
4. Straus KA, Puffenberger EG, Robinson Dl, et al. Type 1 glutaric aciduria, part 1; Natural history of 77 patients. Am J Med Genet C Semin Med Genet 2003; 121: 38-52.
5. Bjugstad KB, Goodman SI, Freed CR Age at symptom onset predicts severity of motor impairment and clinical on set of glutaric aciduria type I. J Pediatr. 2000; 137: 681–686.
6. Kölker S, Garbade S, Greenberg CR, et al. Natural history, out-come, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res. 2006; 59: 840–847.
7. Kurul S, Cakmakçi H, Dirik E. Glutaric aciduria type 1: proton magnetic resonance spectroscopy findings. Pediatr Neurol. 2004;31(3):228-31.
8. Bousser MG, Barnett HJM. Cerebral venous thrombosis. In: Barnett HJM, Mohr JP, Stein BM, Yatsu FM (Eds) Stroke pathophysiology, diagnosis, and management. 2nd edition. New York:Churchill Livingstone Inc., 1992;19:517-537.
9. Renowden S. Cerebral venous sinus thrombosis. European Radiology 2004;14(2):215-26.
10. Damak M, Crassard I, Wolff V, Bousser MG. Isolated lateral sinus thrombosis: a series of 62 patients. Stroke. 2009;40(2):476-81.
11. Allroggen H, Abbott RJ. Cerebral venous sinus thrombosis. Postgrad Med J 2000;76:12-15.
12. Işın Ş, Durak AC. Derin Serabral Ven Trombozu: Manyetik Rezonans Görüntüleme Bulguları. Erciyes Tıp Dergisi 2003;25(1): 54-56.
13. D’Alise MD, Fichtel F, Horowitz M. Sagittal sinus thrombosis following minor head injury treated with continuous urokinase infusion. Surg Neurol 1998;49:430-5.
14. Kuether TA, O’Neill O, Nesbit GM, Barnwell SL. Endovascular treatment of traumatic dural sinus thrombosis: case report. Neurosurgery 1998;42:1163-7.

Thank you for copying data from http://www.arastirmax.com