AI Summary & Key Takeaways
AI InsightThis case was reported in order to emphasize the diagnostic and treat- ment approaches for non-ketotic hiperglycinaemia, a rare disorder of which diagnosis is difficult to make with routine screening tests
📌 3 Key Takeaways
Abstract
A 18-day-old male infant was referred to our neonatal intensive care unit with complaints of hypotonia, poor feeding, seizure and serious apnea. Medical history revea- led that these complaints had begun at the third postnatal day after an asymptomatic period. Hyperammonemia, hypoglycemia, acidosis and ketosis were not revealed by laboratory examinations. High plasma glycine level was measured in Tandem mass spectrometric study. Cerebrospi- nal fluid / plasma glycine ratio was 0.115. The neonate was diagnosed as non-ketotic hyperglycinaemia. This case was reported in order to emphasize the diagnostic and treat- ment approaches for non-ketotic hiperglycinaemia, a rare disorder of which diagnosis is difficult to make with routine screening tests
Özet
On sekiz günlük erkek bebek; hareketlerinde azlık, emme- me, havale geçirme ve ciddi apne nedeni ile ünitemize sevk edildi. Alınan öyküsünden, yakınmaların üç günlük iken başladığı öğrenildi. Laboratuvar analizlerinde; amonyak yüksekliği, hipoglisemi, ketozis ve asidoz gibi metabolik hastalığı düşündüren bulgular gözlenmedi. Tandem mass spektrometrik incelemesinde, plazma glisin seviyesinin yüksek olduğu saptandı. Beyin omurilik sıvısı/plazma gli- sin oranı 0.115 idi. Hastaya non-ketotik hiperglisinemi tanısı konuldu. Bu vaka, ender görülen ve rutin tarama testleri ile tanınması güç olan non-ketotik hiperglisinemi- nin tanı ve tedavi yaklaşımlarını vurgulamak amacı ile rapor edildi