Neonatal nonketotik hiperglisinemi: İki olgu sunumu
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Date
2011-05-05
Authors
Çelik, Yalçın
Gülaşı, Selvi
Atıcı, Aytuğ
Kömür, Mustafa
Turhan, Ali Haydar
Bolat, Ergün
Journal Title
Journal ISSN
Volume Title
Publisher
Uludağ Üniversitesi
Abstract
Giriş: Nonketotik hiperglisinemi glisin yıkımında meydana gelen bir bozukluk sonucunda gelişen otozomal resesif geçişli doğumsal bir metabolizma hastalığıdır. Olgu 1: Üç günlük kız bebek morarmasının fark edilmesi üzerine bir devlet hastanesinin acil servisine götürülmüş ve yeniden canlandırma işlemlerinin uygulanmasının ardından hastaneye yatırılmıştı. Yedinci günde mekanik ventilasyon ihtiyacı devam eden bebek hastanemize sevk edildi. Doğum sırasında herhangi bir sorunu olmayan bebek, doğumdan sonra emmemişti. Soy geçmişinde anne ve baba arasında dördüncü derece akrabalık vardı. Bebek hipotonik ve letarjikti, yenidoğan refleksleri alınamıyordu. Hastanın uzun süren hıçkırıkları ve myoklonik konvülziyonları vardı. Tam kan sayımı, biyokimyasal incelemeleri, tandem mass ve idrar organik asit incelemesi normaldi. Kraniyal magnetik rezonans görüntülemede korpus kallosumda incelme saptandı. Elektroensefalografide baskılanma- boşalma görünümü izlendi. BOS glisin düzeyinin plazma glisin düzeyine oranı 0,32 idi. Bu bulgularla hastaya neonatal nonketotik hiperglisinemi tanısı kondu ve dekstrometorfan ve sodyum benzoat tedavisi başlandı. Olgu 2: Bir devlet hastanesinde doğan erkek bebek, doğumdan sonra emmemesi ve morarması üzerine yenidoğan yoğunbakım ünitesine yatırılmıştı. İkinci gününde myoklonik konvülziyonları gözlenmiş ve hastanemize sevk edilmişti. Soygeçmişinde anne ve baba arasında üçüncü derece akrabalık vardı. Bebek hipotonik ve letarjikti, yenidoğan refleksleri alınamıyordu. Tam kan sayımı, biyokimyasal incelemeleri, tandem mass ve idrar organik asit incelemesi normaldi. Kraniyal magnetik rezonans görüntülemede korpus kallosum ince görünümdeydi. Kraniyal magnetik rezonans spektroskopide 3,56 ppm de glisin piki saptandı. BOS glisin düzeyinin plazma glisin düzeyine oranı 0,21 idi. Bu bulgularla hastaya neonatal nonketotik hiperglisinemi tanısı kondu ve dekstrometorfan ve sodyum benzoat tedavisi başlandı. Tartışma: Her iki olgumuzda da olduğu gibi yenidoğan döneminde açıklanamayan hipotoni, konvülziyon, letarji, koma durumunda neonatal nonketotik hiperglisinemi akla gelmelidir.
Introduction: Nonketotic hyperglycinemia is an autosomal recessive disorder of glycine metabolism caused by a defect in the the glycine cleavage system. Case 1: A 3-day-old female baby was admitted to emergency room of a public hospital due to cyanosis and was hospitalized after resuscitation. She was transferred to our hospital on the seventh day of mechanical ventilation. Her delivery was uneventful but she refused feeding after birth. Her parents were consanguineous with a fourth degree of relationship. She was hypotonic and lethargic and had unresponsive neonatal reflexes. She had persistent hiccups and myoclonic convulsions. Complete blood count, biochemical parameters, tandem mass and urinary organic acid analysis were within normal limits. Cranial magnetic resonance imaging showed a thin corpus callosum. Electroencephalographic monitoring revealed burst suppression pattern. The CSF- to-plasma glycine concentration ratio was 0.32. According to these findings, our patient was diagnosed as neonatal nonketotic hyperglycinemia and was treated with dextromethorphan and sodium benzoate. Case 2: A male baby, born at a public hospital, was admitted to newborn intensive care unit due to poor feeding and cyanosis. On the second day of life, myoclonic convulsions were observed and he was transferred to our hospital. Her parents were consanguineous with a third degree of relationship. He was hypotonic and lethargic and had unresponsive neonatal reflexes. Complete blood count, biochemical parameters, tandem mass and urinary organic acid analysis were within normal limits. Cranial magnetic resonance imaging showed a thin corpus callosum. Cranial magnetic resonance spectroscopy revealed an elevated glycine peak at 3.56 ppm. The CSF- to-plasma glycine concentration ratio was 0.21. According to these findings, our patient was diagnosed as neonatal nonketotic hyperglycinemia and was treated with dextromethorphan and sodium benzoate. Conclusion: Nonketotic hyperglycinemia should be considered in newborns with unidentified hypotonia, convulsions, lethargy and coma.
Introduction: Nonketotic hyperglycinemia is an autosomal recessive disorder of glycine metabolism caused by a defect in the the glycine cleavage system. Case 1: A 3-day-old female baby was admitted to emergency room of a public hospital due to cyanosis and was hospitalized after resuscitation. She was transferred to our hospital on the seventh day of mechanical ventilation. Her delivery was uneventful but she refused feeding after birth. Her parents were consanguineous with a fourth degree of relationship. She was hypotonic and lethargic and had unresponsive neonatal reflexes. She had persistent hiccups and myoclonic convulsions. Complete blood count, biochemical parameters, tandem mass and urinary organic acid analysis were within normal limits. Cranial magnetic resonance imaging showed a thin corpus callosum. Electroencephalographic monitoring revealed burst suppression pattern. The CSF- to-plasma glycine concentration ratio was 0.32. According to these findings, our patient was diagnosed as neonatal nonketotic hyperglycinemia and was treated with dextromethorphan and sodium benzoate. Case 2: A male baby, born at a public hospital, was admitted to newborn intensive care unit due to poor feeding and cyanosis. On the second day of life, myoclonic convulsions were observed and he was transferred to our hospital. Her parents were consanguineous with a third degree of relationship. He was hypotonic and lethargic and had unresponsive neonatal reflexes. Complete blood count, biochemical parameters, tandem mass and urinary organic acid analysis were within normal limits. Cranial magnetic resonance imaging showed a thin corpus callosum. Cranial magnetic resonance spectroscopy revealed an elevated glycine peak at 3.56 ppm. The CSF- to-plasma glycine concentration ratio was 0.21. According to these findings, our patient was diagnosed as neonatal nonketotic hyperglycinemia and was treated with dextromethorphan and sodium benzoate. Conclusion: Nonketotic hyperglycinemia should be considered in newborns with unidentified hypotonia, convulsions, lethargy and coma.
Description
Keywords
Nonketotik hiperglisinemi, Yenidoğan, Ensefalopati, Nonketotic hyperglycinemia, Newborn, Encephalopathy
Citation
Çelik, Y. vd. (2011). "Neonatal nonketotik hiperglisinemi: İki olgu sunumu". Güncel Pediatri, 9(3), 137-140.