Emrah CAN, Asiye NUHOĞLU, Sinan USLU, Ali BÜLBÜL

İnspiratuvar stridor klinik bulgusu ile saptanan argininosüksinik asidüri: Yenidoğan olgusu

A¤›r inspiratuvar stridor klinik bulgusu ile getirilen ve yap›lan tetkiklerinde argininosüksinik asidüri tan›s› konulan bir yenido¤an olgusu, argininosüksinik asidüride ilk kez inspiratuvar stridorun bir klinik bulgu olarak saptanmas› ve inspiratuvar stridor saptanan yenido¤an olgular›nda anatomik bir neden saptanamamas› durumunda metabolik hastal›k taramas›n›n yap›lmas› gereklili¤inin vurgulanmas› amac›yla sunulmufltur.

Argininosuccinic aciduria in a neonate presented with inspiratory stridor

A newborn, who was brought because of severe inspiratory stridor, was diagnosed argininosuccinic aciduria after laboratory tests. This case is presented because it is the first time of a patient to be presented with inspiratory stridor in argininosuccinic aciduria and to emphasize metabolic disease screening in newborns with inspiratory stridor without anatomic pathology.

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