Deniz YÜKSEL, Murat ŞAHİN, Yahya Kemal Yavuz GÜRER

İki taraflı temporal araknoid kistler ve glütarik asidüri tip 1 Olgu Sunumu

Glütarik asidüri tip1 glütaril koenzim A dehidrogenaz eksikliğine bağlı olarak lizin hidroksilizin ve triptofan metabolizmasının bozulması sonucunda ortaya çıkan ender görülen metabolik hastalıktır Erken dönemde belirlenen makrosefali hayatın ilk bir kaç yılı içerisinde ortaya çıkan akut veya zaman içerisinde gelişen hipotoni motor gerilik distoni ve diskinezinin varlığı ile belirgindir Glütarik asidüri tip1 hastalarında klinik bulgulara eşlik eden temporal yerleşimli araknoid kistler bildirilmiştir Glütarik asidüri tip1 tanısı alan temporal araknoid kistleri ve makrosefalisi bulunan altı aylık erkek hasta sunulmuştur Türk Ped Arş 2008; 43: 102 4 Anahtar kelimeler: Glütarik asidüri tip 1 temporal araknoid kist makrosefali

Anahtar Kelimeler:

Glütarik asidüri tip 1, temporal araknoid kist, makrosefali

Bilateral temporal arachnoid cysts and glutaric aciduria type 1 Case Report

Glutaric aciduria type 1 is a rare metabolic disease and an inborn error of lysine hydroxylysine and tryptophan metabolism caused by deficiency of glutaryl coenzyme A dehydrogenase The clinical picture typically shows varying degrees of muscular hypotonia motor delay dystonia and dyskinesia beginning acutely or gradually in the first few years of life in often macrocephalic children Patients with glutaric aciduria type 1 appear to have a bitemporal arachnoid cysts Here we present glutaric aciduria type 1 in a 6 month old boy with bilateral temporal cysts and macrocephaly Turk Arch Ped 2008; 43: 102 4 Key words: Glutaric aciduria type 1 temporal arachnoid cyst macrocephaly

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Goodman SI, Markey SP, Moe PG, et al. Glutaric aciduria: a "new" disorder of aminoacid metabolism. Biochem Med 1975; 12: 12-21.
Lindner M, Kolkers S, Schulze A, et al. Neonatal screening for glutaryl-CoA dehydrogenase deficiency. J İnherit Metab Dis 2004; 27: 851-9.
Enns GM, Cowan TM, Klein O, et al. Aminoacidemias and organic acidemias: Glutaric aciduria type 1. Chapter 23. In: Swaiman KF, Ashwal S, Ferriero DM, (eds). Pediatric Neurology, Principles & Practice. 4th ed. Philadelphia, USA: Mosby Elsevier, 2006: 567-602.
Forstner R, Hoffmann GF, Gassner I, et al. Glutaric aciduria type I: ultrasonographic demonstration of early signs. Pediatr Radiol 1999; 29: 138-43.
Renner C, Razeghi S, Uberall MA, et al. Clinically asymptomatic glutaric aciduria type I in a 4 5/12-year-old girl with bilateral tem- poral arachnoid cysts. J Inher Metab Dis 1997; 20: 840-1.
Morton DH, Bennet MJ, Seargeant LE, et al. Glutaric aciduria type 1: a common cause of episodic encephalopathy and spas- tic paralysis in the Amish of Lancaster County, Pennsylvania. Am J Med Genet 1991; 41: 89-95.
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.
Ozand PT, Gascon GG. Organic acidurias. J Child Neurol 1991; 6: 196-219.
Greenberg CR, Duncan AM, Gregory CA, et al. Assignment of human glutaryl-CoA dehydrogenase gene (GCDH) to the short arm of chromosome 19 (19p13.2) by in situ hybridization and somatic cell hybrid analysis. Genomics 1994; 21: 289-90.
Mahfoud A, Dominguez CL, Rizzo C, et al. In utero macrocep- haly as clinical manifestation of glutaric aciduria type I. Report of a novel mutation. Rev Neurol 2004; 939-42.
Gordon N. Canavan disease: a review of recent developments. Eur J Paediatr Neurol 2001; 5: 65- 9.
Di Rocco M, Biancheri R, Rossi A, et al. Genetic disorders affec- ting white matter in pediatric age. Am J Med Genet B Neuropsy- chiatr Genet 2004; 15: 85-93.
Twomey EL, Naughten ER, Donoghue VB, et al. Neuroimaging fin- dings in glutaric aciduria type 1. Pediatr Radiol 2003; 33: 823- 30.
Hald JK, Nakstad PH, Skjeldal OH, et al. Bilateral arachnoid cysts of the temporal fossa in four children with glutaric aciduri- a type I. AJNR Am J Neuroradiol 1991; 12: 407-9.
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.
Kölker S, Christensen E, Leonard JV, et al. Guideline for the di- agnosis and management of glutaryl-CoA dehydrogenase defici- ency glutaric aciduria type I). J Inherit Metab Dis 2007; 30: 5-22.
Amir N, Elpeleg ON, Shalev RS, et al. Glutaric aciduria type 1: enzymatic and neuroradiologic investigations of two kindreds. J Pediatr 1989; 114: 983-9.
Superti-Furga A. Glutaric aciduria type 1 and neonatal screening: time to proceed with caution. Eur J Pediatr 2003; 162: 17- 20.