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Journals / Harran Üniversitesi Tıp Fakültesi Dergisi / 2009 / Cilt: 6 Sayı: 1

Glutaric aciduria type 1 associated with bilateral temporal arachnoid cysts: Case report

Glutarik Asidüri Tip 1 Ve İki Taraflı Araknoid Kist Birlikteliği: Vaka Sunumu

Hatice Eke Güngör(Harran Üniversitesi Tıp Fakültesi Pediatrik Nöroloji BD)
Hasan Çeçe(Harran Üniversitesi Tıp Fakültesi Radyoloji AD)
Akın İşcan(Harran Üniversitesi Tıp Fakültesi Pediatrik Nöroloji BD)
Pages
39–42
Publication Date
2009-04-01
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Here, we present glutaric aciduria type 1 in a 8-month-old girl with bilateral temporal cysts and basal ganglia lesion

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Glutaric aciduria type 1 is an autosomal recessive disorder resulting from a deficiency of glutaryl-CoA dehydrogenase.
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Key Findings & Data:This leads to an accumulation of glutaric and 3-hydroxyglutaric acids and secondary carnitin deficiency.
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Conclusion & Impact:Here, we present glutaric aciduria type 1 in a 8-month-old girl with bilateral temporal cysts and basal ganglia lesion
🔬Design:Makale
📍Scope:Comprehensive Sample
⚙️Variables:Glutarik asidüri tip 1 · bazal ganglion tutulumu · temporal araknoid kist

Abstract

Glutaric aciduria type 1 is an autosomal recessive disorder resulting from a deficiency of glutaryl-CoA dehydrogenase. This leads to an accumulation of glutaric and 3-hydroxyglutaric acids and secondary carnitin deficiency. The clinical picture typically shows varying degrees of muscular hypotonia, macrocephaly, motor delay, dystonia, and dyskinesia beginning acutely or gradually in the first few years of childhood. The symptomatology is discussed, especially those resulting from lesion in the basal ganglia. Frequent neuroradiological findings include widened sylvian fissures, frontotemporal volume loss, basal ganglia lesions. Patients with glutaric aciduria type 1 a rare appear to have a bitemporal arachnoid cysts. Here, we present glutaric aciduria type 1 in a 8-month-old girl with bilateral temporal cysts and basal ganglia lesion

Özet

Glutarik asidüri tip 1, glutaril-koenzim A dehidrogenaz eksikliğine bağlı olarak gelişen otozomal resesif bir hastalıktır. Glutarik asit ve 3-hidroksiglutarik asit birikimi ile ikincil karnitin eksikliğine neden olur. Çocuklarda özellikle hayatın ilk bir kaç yılı içerisinde ortaya çıkan; hipotoni, makrosefali, motor gerilik, distoni ve diskinezi başlıca klinik bulguları oluşturur. Semptomlar özellikle bazal ganglion tutulumuna bağlanmaktadır. Silvian fissürde genişleme, frontotemporal atrofi ve bazal ganglion tutulumu sıklıkla gözlenen nöroradyolojik bulgulardır. Glutarik asidüri tip 1 tanısı alan vakalarda nadiren temporal loblarda araknoid kistler bildirilmiştir. Bu çalışmada Glutarik asidüri tip 1 tanısı alan iki taraflı araknoid kist saptanan ve bazal ganglion tutulumu olan sekiz aylık kız hasta sunulmuştur

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Cite This Article

Güngör, H. E., Çeçe, H., İşcan, A. (2009). Glutaric aciduria type 1 associated with bilateral temporal arachnoid cysts: Case report. Harran Üniversitesi Tıp Fakültesi Dergisi, Cilt: 6 Sayı: 1, 39–42. https://ajindex.com/articles/1081833

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References (19)

  1. Twomey, Eileen EL, Naughten ER, et al. Neuroimaging findings in glutaric aciduria type 1. Pediatr Radiol, 2003; 33: 823-30.
  2. 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.
  3. 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.
  4. Ozand PT, Gascon GG. Organic acidurias. J Child Neurol 1991; 6: 196-219.
  5. Neumaier-Probst E, Hartıng I, Seitz A, et al. Neuroradiological findings in glutaric aciduria type deficiency). J.Inherit Metab. Dis, 2004; 27: 869-6. dehydrogenase
  6. Lutcherath V, Waaler PE, Jellum E, et al. Children with bilateral temporal arachnoid cysts may have glutaric aciduria type 1(GAT1); operation without knowing that may be harmful. Acta Neurochir, 2000;142: 1025-30.
  7. Niiyama S, Koelker S, Degen I, et al. Acrodermatitis acidemica secondary to malnutrition in glutaric aciduria type 1. Eur J Dermatol, 2001; 11: 244-6.
  8. Brandt NJ, Gregersen N, Christensen E, et al. Treatment of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria). Experience with diet, riboflavin, and GABA analogue. J Pediatr, 1979; 94: 669-3.
  9. Lindner M, Kolker S, Schulze A, et al. Neonatal dehydrogenase deficiency. J Inherit Metab Dis, 2004;27:851–9. for glutaryl-CoA
  10. Serarslan Y, Melek İ M, Sangün Ö, et al. Macrocephaly and bitemporal arachnoid cysts not associated with glutaric aciduria type I in a child. Turkish Neurosurgery 2008; 18:172- 6.
  11. Superti-Furga A, Hoffmann GF. Glutaric aciduria type 1 (glutaryl-CoA dehydrogenase deficiency): questions. Eur J Pediatr 1997; 156: 821-8.
  12. Altman NR, Rovira MJ, Bauer M. Glutaric aciduria type I: MR and unanswered findings in two cases. Am J Neuroradiol 199;12: 966–8.
  13. Yüksel D, Şahin M, Gürer Y. İki taraflı temporal araknoid kistler ve glutarik asidüri tip 1. Türk Ped Arş. 2008; 43: 102-4.
  14. Forstner R, Hoffmann GF, Gassner I, et al.
  15. Glutaric aciduria type I: Ultrasonographic demonstration of early signs. Pediatr Radiol, 1999; 29: 138-43.
  16. Christensen E. A fibroblast glutaryl-CoA dehydrogenase assay using detritiation of 3H- labelled glutaryl-CoA: application in the genotyping dehydrogenase locus. Clin Chim Acta, 1993; 220: 71-80. the glutaryl-CoA
  17. Yalnızoğlu D, Sarı N, Turanlı G, ve ark. Neurophysiologic features in glutaric aciduria type 1.Turk J Pediatr, 2005; 47: 153-8.
  18. Mahfoud A, Dominguez CL, Rizzo C, et al. macrocephaly manifestation of glutaric aciduria type I. Report of a novel mutation. Rev Neurol, 2004; 39-42. as clinical
  19. Superti-Furga A. Glutaric aciduria type 1 and neonatal screening: time to proceed with caution. Eur J Pediatr, 2003; 162: 17- 20.