The Application Value of Early Amplitude-Integrated Electroencephalogram in a Newborn with Nonketotic Hyperglycinemia: A Rare Case Report

 

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Abstract

Objective

This study aimed to evaluate the application value of amplitude-integrated electroencephalogram (aEEG) findings in a newborn with nonketotic hyperglycinemia (NKH).

Study Design

The clinical data of a neonatal patient with NKH were retrospectively analyzed. In this study, aEEG was first used to assess brain function in NKH due to AMT gene mutations in the Chinese mainland so far. The aEEG assessment was stratified according to its background pattern, sleep–wake cycle (SWC), and seizure activity, which gave more objective and systemic results.

Results

Seizures and burst–suppression pattern were detected on the aEEG. The background belonged to discontinuous voltage, and showed discontinuity of cerebral activity in the form of the burst–suppression pattern. The classification of SWC in this record belonged to the “No SWC” category, which meant the child had severe brain damage. A typical neonatal single seizure was found. The seizure activity lasted approximately 30 seconds. However, clinical symptoms were not observed.

Conclusion

Patients with NKH often exhibit complicated clinical phenotypes, and there is a lack of specific symptoms, especially the symptoms of encephalopathy are atypical. aEEG is helpful for the early diagnosis and treatment of seizures. It can help the doctor to carry out appropriate treatment in time. The application value of aEEG in patients with NKH was significant.

Publication History

Received: 27 December 2024

Accepted: 04 March 2025

Accepted Manuscript online:
28 April 2025

Article published online:
27 May 2025

© 2025. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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• References

• 1 Coughlin II CR, Swanson MA, Kronquist K. et al. The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. Genet Med 2017; 19 (01) 104-111
  Search in Google Scholar
• 2 Poothrikovil RP, Al Thihli K, Al Futaisi A, Al Murshidi F. Nonketotic hyperglycinemia: Two case reports and review. Neurodiagn J 2019; 59 (03) 142-151
  Search in Google Scholar
• 3 Swanson MA, Coughlin Jr CR, Scharer GH. et al. Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. Ann Neurol 2015; 78 (04) 606-618
  Search in Google Scholar
• 4 Gao ZJ, Jiang Q, Chen Q, Xu KM. Clinical and molecular genetic study of nonketotic hyperglycinemia in a Chinese family [in Chinese]. Zhongguo Dang Dai Er Ke Za Zhi 2017; 19 (03) 268-271
  Search in Google Scholar
• 5 Lin Y, Zheng Z, Sun W, Fu Q. A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia. BMC Med Genet 2018; 19 (01) 5
  Search in Google Scholar
• 6 Li HF. Clinical and molecular genetic characteristics of nonketotic hyperglycinemia [in Chinese]. Zhongguo Dang Dai Er Ke Za Zhi 2017; 19 (03) 272-274
  Search in Google Scholar
• 7 Jiang TJ, Jiang JJ, Xu JL, Zhen J, Jiang PF, Gao F. Clinical and genetic analyses of a family with atypical nonketotic hyperglycinemia caused by compound heterozygous mutations in the GLDC gene [in Chinese]. Zhongguo Dang Dai Er Ke Za Zhi 2017; 19 (10) 1087-1091
  Search in Google Scholar
• 8 Karimzadeh P, Taghdiri MM, Abasi E. et al. Metabolic screening in children with neurodevelopmental delay, seizure and/or regression. Iran J Child Neurol 2017; 11 (03) 42-47
  Search in Google Scholar
• 9 Faigle R, Sutter R, Kaplan PW. Electroencephalography of encephalopathy in patients with endocrine and metabolic disorders. J Clin Neurophysiol 2013; 30 (05) 505-516
  Search in Google Scholar
• 10 Kato T, Okumura A, Hayakawa F, Tsuji T, Natsume J, Hayakawa M. Amplitude-integrated electroencephalography in preterm infants with cystic periventricular leukomalacia. Early Hum Dev 2011; 87 (03) 217-221
  Search in Google Scholar
• 11 Chen Z, He Q, Li W, Liang J, Zhu T, Tang J. A metadecomposition of clinical value assessed using aEEG in severe neonatal hyperbilirubinemia. Contrast Media Mol Imaging 2022; 2022 (11) 5379369
  Search in Google Scholar
• 12 Pu Y, Zhu Z, Yang Q. et al. Significance of amplitude integrated electroencephalography in early stage of neonatal hypoxic-ischemic encephalopathy and cerebral function monitoring in neonatal intensive care units. Am J Transl Res 2021; 13 (08) 9437-9443
  Search in Google Scholar
• 13 Toet MC, van Rooij LG, de Vries LS. The use of amplitude integrated electroencephalography for assessing neonatal neurologic injury. Clin Perinatol 2008; 35 (04) 665-678 , v
  Search in Google Scholar
• 14 Hellström-Westas L, Rosén I. Continuous brain-function monitoring: state of the art in clinical practice. Semin Fetal Neonatal Med 2006; 11 (06) 503-511
  Search in Google Scholar
• 15 Zhou C. The Amplitude-Integrated Electroencephalograms in the Newborn [M]. Beijing: People's Medical Publishing House; 2018
  Search in Google Scholar
• 16 Wikström S, Pupp IH, Rosén I. et al. Early single-channel aEEG/EEG predicts outcome in very preterm infants. Acta Paediatr 2012; 101 (07) 719-726
  Search in Google Scholar
• 17 Vanhatalo S, Kaila K. Development of neonatal EEG activity: from phenomenology to physiology. Semin Fetal Neonatal Med 2006; 11 (06) 471-478
  Search in Google Scholar
• 18 Liu LL, Hou XL. Expert consensus on the clinical application of aEEG in neonates. Chin J Neonatol 2019; 34 (01) 3-7
  Search in Google Scholar
• 19 Abend NS, Wusthoff CJ. Neonatal seizures and status epilepticus. J Clin Neurophysiol 2012; 29 (05) 441-448
  Search in Google Scholar
• 20 Hellström-Westas L. Amplitude-integrated electroencephalography for seizure detection in newborn infants. Semin Fetal Neonatal Med 2018; 23 (03) 175-182
  Search in Google Scholar
• 21 Elabd HSA, Bastaki F, Khalifa M. Homozygous novel variants in the glycine decarboxylase gene associated with nonketotic hyperglycinemia in a distinct population. J Pediatr Genet 2021; 12 (01) 23-31
  Search in Google Scholar
• 22 Bin Arif T, Ahmed J, Malik F, Nasir S, Khan TM. Neonatal nonketotic hyperglycinemia: A rare case from Pakistan. Cureus 2020; 12 (03) e7235
  Search in Google Scholar
• 23 Ning JJ, Li F, Li SQ. Clinical and genetic analysis of nonketotic hyperglycinemia: A case report. World J Clin Cases 2022; 10 (22) 7982-7988
  Search in Google Scholar
• 24 Ichikawa K, Inami Y, Kaneko K. Seventeen-year long-term survival of a case of neonatal nonketotic hyperglycinemia. Pediatr Int 2020; 62 (09) 1111-1113
  Search in Google Scholar
• 25 Ahearne CE, Boylan GB, Murray DM. Short and long term prognosis in perinatal asphyxia: An update. World J Clin Pediatr 2016; 5 (01) 67-74
  Search in Google Scholar
• 26 Variane GFT, Rodrigues DP, Pietrobom RFR, França CN, Netto A, Magalhães M. Newborns at high risk for brain injury: the role of the amplitude-integrated electroencephalography. J Pediatr (Rio J) 2022; 98 (06) 565-571
  Search in Google Scholar
• 27 Hunt RW, Liley HG, Wagh D. et al Newborn Electrographic Seizure Trial Investigators. Effect of treatment of clinical seizures vs electrographic seizures in full-term and near-term neonates: A randomized clinical trial. JAMA Netw Open 2021; 4 (12) e2139604
  Search in Google Scholar
• 28 Clancy RR. Prolonged electroencephalogram monitoring for seizures and their treatment. Clin Perinatol 2006; 33 (03) 649-665 , vi
  Search in Google Scholar