Neonatal Nonketotik Hiperglisinemi: İki Olgu Sunumu

Yalçın Çelik; Selvi Gülaşı; Aytuğ Atıcı; Mustafa Kömür; Ali Haydar Turhan; Ergül Bolat

Neonatal Nonketotik Hiperglisinemi: İki Olgu Sunumu

Year 2012, Volume: 10 Issue: 1, 137 - 140, 01.06.2012

Yalçın Çelik Selvi Gülaşı Aytuğ Atıcı Mustafa Kömür Ali Haydar Turhan Ergül Bolat

Abstract

Giriş: Nonketotik hiperglisinemi glisin yıkımında meydana gelen bir bozukluksonucunda gelişen otozomal resesif geçişli doğumsal bir metabolizma hastalığıdır. Olgu 1: Üç günlük kız bebek morarmasının fark edilmesi üzerine bir devlethastanesinin acil servisine götürülmüş ve yeniden canlandırma işlemlerininuygulanmasının ardından hastaneye yatırılmıştı. Yedinci günde mekanik ventilasyonihtiyacı devam eden bebek hastanemize sevk edildi. Doğum sırasında herhangi birsorunu olmayan bebek, doğumdan sonra emmemişti. Soy geçmişinde anne ve babaarasında dördüncü derece akrabalık vardı. Bebek hipotonik ve letarjikti, yenidoğanrefleksleri alınamıyordu. Hastanın uzun süren hıçkırıkları ve myoklonik konvülziyonlarıvardı. Tam kan sayımı, biyokimyasal incelemeleri, tandem mass ve idrar organik asitincelemesi normaldi. Kraniyal magnetik rezonans görüntülemede korpus kallosumdaincelme saptandı. Elektroensefalografide baskılanma- boşalma görünümü izlendi.BOS glisin düzeyinin plazma glisin düzeyine oranı 0,32 idi. Bu bulgularla hastayaneonatal nonketotik hiperglisinemi tanısı kondu ve dekstrometorfan ve sodyumbenzoat tedavisi başlandı.Olgu 2: Bir devlet hastanesinde doğan erkek bebek, doğumdan sonra emmemesi vemorarması üzerine yenidoğan yoğunbakım ünitesine yatırılmıştı. İkinci günündemyoklonik konvülziyonları gözlenmiş ve hastanemize sevk edilmişti. Soygeçmişindeanne 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 rezonansgörüntülemede korpus kallosum ince görünümdeydi. Kraniyal magnetik rezonansspektroskopide 3,56 ppm de glisin piki saptandı. BOS glisin düzeyinin plazma glisindüzeyine oranı 0,21 idi. Bu bulgularla hastaya neonatal nonketotik hiperglisinemi tanısıkondu ve dekstrometorfan ve sodyum benzoat tedavisi başlandı.Tartışma: Her iki olgumuzda da olduğu gibi yenidoğan döneminde açıklanamayanhipotoni, konvülziyon, letarji, koma durumunda neonatal nonketotik hiperglisinemi aklagelmelidir

Keywords

Nonketotik hiperglisinemi, yenidoğan, ensefalopati

References

1. Manley BJ, Sokol J, Cheong JL. Intracerebral blood and MRS in neonatal nonketotic hyperglycinemia. Pediatr Neurol 2010;42:219-22.
2. Rossi S, Daniele I, Bastrenta P, Mastrangelo M, Lista G. Early myoclonic encephalopathy and nonketotic hyperglycinemia. Pediatr Neurol 2009;41:371-4.
3. Boneh A, Allan S, Mendelson D, Spriggs M, Gillam LH, Korman SH. Clinical, ethical and legal considerations in the treatment of newborns with non-ketotic hyperglycinaemia. Mol Genet Metab 2008;94:143-7.
4. Lang TF, Parr JR, Matthews EE, Gray RG, Bonham JR, Kay JD. Practical difficulties in the diagnosis of transient non-ketotic hyperglycinaemia. Dev Med Child Neurol 2008;50:157-9.
5. Culjat M, Benjak V, Dasovic-Buljevic A, Ozretic D, Fumic K, Acquaviva C et al. Magnetic resonance findings in a neonate with nonketotic hyperglycinemia: case report. J Comput Assist Tomogr 2010;34:762-5.
6. Bhamkar RP, Colaco P. Neonatal nonketotic hyperglycinemia. Indian J Pediatr 2007;74:1124-6.
7. Demirel N, Bas AY, Zenciroglu A, Aydemir C, Kalkanoglu S, Coskun T. Neonatal non-ketotic hyperglycinemia: report of five cases. Pediatr Int 2008;50:121-3.
8. Dinopoulos A, Matsubara Y, Kure S. Atypical variants of nonketotic hyperglycinemia. Mol Genet Metab 2005;86:61-9.
9. Meyer S, Acquaviva C, Shamdeen MG, Haas D, VianeySaban C. A novel missense mutation in a neonate with nonketotic hyperglycinemia. Pediatr Neurol 2010;43:363-7.
10. Hoover-Fong JE, Shah S, Van Hove JL, Applegarth D, Toone J, Hamosh A. Natural history of nonketotic hyperglycinemia in 65 patients. Neurology 2004;63:1847-53.
11. Lu FL, Wang PJ, Hwu WL, Tsou Yau KI, Wang TR. Neonatal type of nonketotic hyperglycinemia. Pediatr Neurol 1999;20:295-300.
12. Shah DK, Tingay DG, Fink AM, Hunt RW, Dargaville PA. Magnetic resonance imaging in neonatal nonketotic hyperglycinemia. Pediatr Neurol 2005;33:50-2.
13. Tan ES, Wiley V, Carpenter K, Wilcken B. Non-ketotic hyperglycinemia is usually not detectable by tandem mass spectrometry newborn screening. Mol Genet Metab 2007;90:446-8.
14. İpek İÖ, Atay E, Duras G, Bozaykut A. Neonatal nonketotik hiperglisinemi. Tur Ped Ars 2004;39:129-31.
15. Mastrangelo M, Canafoglia L, Franceschetti S, Oppezzo C, Mosca F, Menni F, et al. High-frequency rhythmic cortical myoclonus in a long-surviving patient with nonketotic hypergylcemia. J Child Neurol 2008;23:321-4.

Neonatal Nonketotic Hyperglycinemia: Report of Two Cases

Year 2012, Volume: 10 Issue: 1, 137 - 140, 01.06.2012

Yalçın Çelik Selvi Gülaşı Aytuğ Atıcı Mustafa Kömür Ali Haydar Turhan Ergül Bolat

Abstract

Introduction: Nonketotic hyperglycinemia is an autosomal recessive disorder of glycinemetabolism 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 hospitaldue to cyanosis and was hospitalized after resuscitation. She was transferred to ourhospital on the seventh day of mechanical ventilation. Her delivery was uneventful butshe refused feeding after birth. Her parents were consanguineous with a fourthdegree of relationship. She was hypotonic and lethargic and had unresponsiveneonatal reflexes. She had persistent hiccups and myoclonic convulsions. Completeblood count, biochemical parameters, tandem mass and urinary organic acid analysiswere within normal limits. Cranial magnetic resonance imaging showed a thin corpuscallosum. 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 treatedwith 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 andcyanosis. On the second day of life, myoclonic convulsions were observed and he was transferred to our hospital. Herparents were consanguineous with a third degree of relationship. He was hypotonic and lethargic and had unresponsiveneonatal reflexes. Complete blood count, biochemical parameters, tandem mass and urinary organic acid analysis werewithin normal limits. Cranial magnetic resonance imaging showed a thin corpus callosum. Cranial magnetic resonancespectroscopy 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 withdextromethorphan and sodium benzoate. Conclusion: Nonketotic hyperglycinemia should be considered in newborns with unidentified hypotonia, convulsions, lethargy and coma

Keywords

Nonketotic hyperglycinemia, newborn, encephalopathy

References

1. Manley BJ, Sokol J, Cheong JL. Intracerebral blood and MRS in neonatal nonketotic hyperglycinemia. Pediatr Neurol 2010;42:219-22.
2. Rossi S, Daniele I, Bastrenta P, Mastrangelo M, Lista G. Early myoclonic encephalopathy and nonketotic hyperglycinemia. Pediatr Neurol 2009;41:371-4.
3. Boneh A, Allan S, Mendelson D, Spriggs M, Gillam LH, Korman SH. Clinical, ethical and legal considerations in the treatment of newborns with non-ketotic hyperglycinaemia. Mol Genet Metab 2008;94:143-7.
4. Lang TF, Parr JR, Matthews EE, Gray RG, Bonham JR, Kay JD. Practical difficulties in the diagnosis of transient non-ketotic hyperglycinaemia. Dev Med Child Neurol 2008;50:157-9.
5. Culjat M, Benjak V, Dasovic-Buljevic A, Ozretic D, Fumic K, Acquaviva C et al. Magnetic resonance findings in a neonate with nonketotic hyperglycinemia: case report. J Comput Assist Tomogr 2010;34:762-5.
6. Bhamkar RP, Colaco P. Neonatal nonketotic hyperglycinemia. Indian J Pediatr 2007;74:1124-6.
7. Demirel N, Bas AY, Zenciroglu A, Aydemir C, Kalkanoglu S, Coskun T. Neonatal non-ketotic hyperglycinemia: report of five cases. Pediatr Int 2008;50:121-3.
8. Dinopoulos A, Matsubara Y, Kure S. Atypical variants of nonketotic hyperglycinemia. Mol Genet Metab 2005;86:61-9.
9. Meyer S, Acquaviva C, Shamdeen MG, Haas D, VianeySaban C. A novel missense mutation in a neonate with nonketotic hyperglycinemia. Pediatr Neurol 2010;43:363-7.
10. Hoover-Fong JE, Shah S, Van Hove JL, Applegarth D, Toone J, Hamosh A. Natural history of nonketotic hyperglycinemia in 65 patients. Neurology 2004;63:1847-53.
11. Lu FL, Wang PJ, Hwu WL, Tsou Yau KI, Wang TR. Neonatal type of nonketotic hyperglycinemia. Pediatr Neurol 1999;20:295-300.
12. Shah DK, Tingay DG, Fink AM, Hunt RW, Dargaville PA. Magnetic resonance imaging in neonatal nonketotic hyperglycinemia. Pediatr Neurol 2005;33:50-2.
13. Tan ES, Wiley V, Carpenter K, Wilcken B. Non-ketotic hyperglycinemia is usually not detectable by tandem mass spectrometry newborn screening. Mol Genet Metab 2007;90:446-8.
14. İpek İÖ, Atay E, Duras G, Bozaykut A. Neonatal nonketotik hiperglisinemi. Tur Ped Ars 2004;39:129-31.
15. Mastrangelo M, Canafoglia L, Franceschetti S, Oppezzo C, Mosca F, Menni F, et al. High-frequency rhythmic cortical myoclonus in a long-surviving patient with nonketotic hypergylcemia. J Child Neurol 2008;23:321-4.

There are 15 citations in total.

Details

Primary Language	Turkish
Journal Section	Case Report
Authors	Yalçın Çelik Selvi Gülaşı This is me Aytuğ Atıcı This is me Mustafa Kömür This is me Ali Haydar Turhan This is me Ergül Bolat This is me
Publication Date	June 1, 2012
Published in Issue	Year 2012 Volume: 10 Issue: 1

Cite

APA	Çelik, Y., Gülaşı, S., Atıcı, A., Kömür, M., et al. (2012). Neonatal Nonketotik Hiperglisinemi: İki Olgu Sunumu. Güncel Pediatri, 10(1), 137-140.
AMA	Çelik Y, Gülaşı S, Atıcı A, Kömür M, Turhan AH, Bolat E. Neonatal Nonketotik Hiperglisinemi: İki Olgu Sunumu. Güncel Pediatri. June 2012;10(1):137-140.
Chicago	Çelik, Yalçın, Selvi Gülaşı, Aytuğ Atıcı, Mustafa Kömür, Ali Haydar Turhan, and Ergül Bolat. “Neonatal Nonketotik Hiperglisinemi: İki Olgu Sunumu”. Güncel Pediatri 10, no. 1 (June 2012): 137-40.
EndNote	Çelik Y, Gülaşı S, Atıcı A, Kömür M, Turhan AH, Bolat E (June 1, 2012) Neonatal Nonketotik Hiperglisinemi: İki Olgu Sunumu. Güncel Pediatri 10 1 137–140.
IEEE	Y. Çelik, S. Gülaşı, A. Atıcı, M. Kömür, A. H. Turhan, and E. Bolat, “Neonatal Nonketotik Hiperglisinemi: İki Olgu Sunumu”, Güncel Pediatri, vol. 10, no. 1, pp. 137–140, 2012.
ISNAD	Çelik, Yalçın et al. “Neonatal Nonketotik Hiperglisinemi: İki Olgu Sunumu”. Güncel Pediatri 10/1 (June 2012), 137-140.
JAMA	Çelik Y, Gülaşı S, Atıcı A, Kömür M, Turhan AH, Bolat E. Neonatal Nonketotik Hiperglisinemi: İki Olgu Sunumu. Güncel Pediatri. 2012;10:137–140.
MLA	Çelik, Yalçın et al. “Neonatal Nonketotik Hiperglisinemi: İki Olgu Sunumu”. Güncel Pediatri, vol. 10, no. 1, 2012, pp. 137-40.
Vancouver	Çelik Y, Gülaşı S, Atıcı A, Kömür M, Turhan AH, Bolat E. Neonatal Nonketotik Hiperglisinemi: İki Olgu Sunumu. Güncel Pediatri. 2012;10(1):137-40.