Turkish Archives of Pediatrics
Case Report

Argininosuccinic aciduria in a neonate presented with inspiratory stridor

1.

Başkent University Medical Faculty, Department of Pediatrics, Ankara , Turkey

2.

Şişli Etfal Education and Research Hospital, Neonatal Clinic, İstanbul, Turkey

3.

Başkent University Medical Faculty, Department of Pathology, Ankara, Turkey

4.

Baflkent University Medical Faculty, Department of Pediatrics, Ankara , Turkey

Turk Arch Pediatr 2011; 46: 81-83
DOI: 10.4274/tpa.46.15
Read: 863 Downloads: 728 Published: 12 December 2020

A newborn who was brought with a clinical finding of severe inspiratory stridor was diagnosed with argininosuccinic aciduria after laboratory tests. This case is presented because it is the first case in whom inspiratory stridor was found as a clinical finding in argininosuccinic aciduria. The study was aimed to emphasise metabolic disease screening in newborns with inspiratory stridor without anatomic pathology.(Türk Ped Arch 2011; 46: 84-6) 


İnspiratuvar stridor klinik bulgusu ile saptanan argininosüksinik asidüri: yenidoğan olgusu

Ağır inspiratuvar stridor klinik bulgusu ile getirilen ve yapılan tetkiklerinde argininosüksinik asidüri tanısı konulan bir yenidoğan olgusu, argininosüksinik asidüride ilk kez inspiratuvar stridorun bir klinik bulgu olarak saptanması ve inspiratuvar stridor saptanan yenidoğan olgularında anatomik bir neden saptanamaması durumunda metabolik hastalık taramasının yapılması gerekliliğinin vurgulanması amacıyla sunulmuştur.(Türk Ped Arş 2011; 46: 84-6) 

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EISSN 2757-6256