AI Summary & Key Takeaways
AI InsightIn this article we report a patient who came to the clinic with decreased absorbtion, widely hypotonia, myoclonic seizures and hiccups and who has been diagnosed as non ketotic hyperglycinemia.
📌 3 Key Takeaways
Abstract
On the newborn period some metabolic diseases may cause encephalopathy clinic which can threat the life. This is related with tke accumulation of metabolic intermediates ond the brain and their toxic effects.Babies are usually asymptomatic at birth. By the accumulation of toxic metabolytes patients have the encephalopathy symptoms such as hypotonia, hypertonia, convulsions and lethargy. In this article we report a patient who came to the clinic with decreased absorbtion, widely hypotonia, myoclonic seizures and hiccups and who has been diagnosed as non ketotic hyperglycinemia.
Özet
Yenidoğan döneminde bazı metabolik hastalıklar hayatı tehdit eden ensefalopati tablosu olarak ortaya çıkar. Bu durum bazı metabolizma ara ürünlerinin beyinde birikerek toksik etkiler göstermesi ile ilişkilidir. Bebekler doğumda genelde asemptomatiktir. Yaşamın ilk günlerinde toksik metabolitlerin birikimi ile hastalarda yaygın hipotoni veya hipertoni, konvülzyonlar ve letarji gibi ensefalopati bulguları ortaya çıkar. Bu yazıda emmede azalma, yaygın hipotoni, miyoklonik nöbet ve hıçkırık nedeni ile gelen ve non-ketotik hiperglisinemi tanısı koyduğumuz bir infant sunulmuştur.