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Nonketotic hyperglycinemia: spectrum of imaging findings with emphasis on diffusion-weighted imaging

  • Paediatric Neuroradiology
  • Published:
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Abstract

Purpose

The purpose of this study was to explore brain abnormalities in nonketotic hyperglycinemia (NKH) using diffusion-weighted imaging (DWI) and when feasible, diffusion tensor imaging (DTI) and tractography.

Methods

Seven patients with confirmed diagnosis of NKH (8 days–2 years) underwent brain MRI. Conventional T1 and T2WI were acquired in all patients, DWI in six and DTI and tractography in two (4 months and 2 years). Measurements of fractional anisotropy (FA), radial diffusivity (RD), axial diffusivity (AD) and Trace from eight white matter regions were compared between the two patients and age-matched controls. Tractography of corpus callosum, superior longitudinal fasciculus and corticospinal tracts was performed with extraction of their FA and diffusivity indices.

Results

MRI showed nonspecific brain atrophy in three children. Corpus callosum atrophy was found as a part of these atrophic changes. Cerebellar vermian hypoplasia and supratentorial hydrocephalus were seen in one patient. The topographic distribution of diffusion restriction was different among patients. The affected white matter regions were not predominantly following the expected areas of myelination according to patients’ age. Deep grey matter nuclei were affected in one patient. DTI revealed lower FA with higher RD in most of the measured white matter regions and tracts. These changes were more appreciated in the 2-year-old patient. However, Trace was higher in the 2-year-old patient and lower in the 4-month-old one. The extracted tracts were decreased in volume.

Conclusion

DWI, DTI and tractography with FA and diffusivity measurements can give insights into white matter microstructural alterations that can occur in NKH.

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References

  1. Hoover-Fong JE, Shah S, Van Hove JLK (2004) Natural history of nonketotic hyperglycinemia in 65 patients. Neurology 63:1847–1853

    Article  CAS  PubMed  Google Scholar 

  2. Press GA, Barshop BA, Haas RH et al (1989) Abnormalities of the brain in nonketotic hyperglycinemia: MR manifestations. Am J Neuroradiol 10:315–321

    CAS  PubMed  Google Scholar 

  3. Shah DK, Tingay DG, Fink AM et al (2005) Magnetic resonance imaging in neonatal nonketotic hyperglycinemia. Pediatr Neurol 33:50–52

    Article  PubMed  Google Scholar 

  4. Khong PL, Lam BCC, Chung BHY (2003) Diffusion-weighted MR imaging in neonatal nonketotic hyperglycinemia. Am J Neuroradiol 24:1181–1183

    PubMed  Google Scholar 

  5. Kanekar S, Byler D (2013) Characteristic MRI findings in neonatal nonketotic hyperglycinemia due to sequence changes in GLDC gene encoding the enzyme glycine decarboxylase. Metab Brain Dis 28:717–720

    Article  CAS  PubMed  Google Scholar 

  6. Nicolasjilwan M, Ozer H, Wintermark M et al (2011) Neonatal non-ketotic hyperglycinemia. J Neuroradiol 38:246–250

    Article  CAS  PubMed  Google Scholar 

  7. Butler CJ, Likeman M, Mallick AA (2017) Distinctive magnetic resonance imaging findings in neonatal nonketotic hyperglycinemia. Pediatr Neurol 72:90–91

    Article  PubMed  Google Scholar 

  8. Zubarioglu T, Kiykim E, Cansever MS et al (2016) Neonatal nonketotic hyperglycinemia: diffusion-weighted magnetic resonance imaging and diagnostic clues. Acta Neurol Belg 116:671–673

    Article  PubMed  Google Scholar 

  9. Culjat M, Benjak V, Dasovic-Buljevic A et al (2010) Magnetic resonance findings in a neonate with nonketotic hyperglycinemia: case report. J Comput Assist Tomogr 34:762–765

    Article  PubMed  Google Scholar 

  10. Sener RN (2003) Nonketotic hyperglycinemia: diffusion magnetic resonance imaging findings. J Comput Assist Tomogr 27:538–540

    Article  PubMed  Google Scholar 

  11. Mourmans J, Majoie CBLM, Barth PG et al (2006) Sequential MR imaging changes in nonketotic hyperglycinemia. Am J Neuroradiol 27:208–211

    CAS  PubMed  Google Scholar 

  12. DTI, Jiang H, van Zijl PC, Kim J et al (2006) DtiStudio: resource program for diffusion tensor computation and fiber bundle tracking. Comput Methods Prog Biomed 81:106–116

    Article  Google Scholar 

  13. Wakana S, Caprihan A, Panzenboeck MM et al (2007) Reproducibility of quantitative tractography methods applied to cerebral white matter. NeuroImage 36:630–644

    Article  PubMed  PubMed Central  Google Scholar 

  14. Shroff MM, Soares-Fernandes JP, Whyte H et al (2010) MR imaging for diagnostic evaluation of encephalopathy in the newborn. Radiographics 30:763–780

    Article  PubMed  Google Scholar 

  15. Patay Z (2011) MR imaging workup of inborn errors of metabolism of early postnatal onset. Magn Reson Imaging Clin N Am 19:733–759

    Article  PubMed  Google Scholar 

  16. Isaacson J, Provenzale J (2011) Diffusion tensor imaging for evaluation of the childhood brain and pediatric white matter disorders. Neuroimaging Clin N Am 21:179–189

    Article  PubMed  Google Scholar 

  17. Song SK, Sun SW, Ramsbottom MJ et al (2002) Dysmyelination revealed through MRI as increased radial (but unchanged axial) diffusion of water. NeuroImage 17:1429–1436

    Article  PubMed  Google Scholar 

  18. Mori S, Zhang J (2006) Principles of diffusion tensor imaging and its applications to basic neuroscience research. Neuron 51:527–539

    Article  CAS  PubMed  Google Scholar 

  19. Gabis L, Parton P, Roche P (2001) In vivo 1H magnetic resonance spectroscopic measurement of brain glycine levels in nonketotic hyperglycinemia. J Neuroimaging 11:209–211

    Article  CAS  PubMed  Google Scholar 

  20. Viola A, Chabrol B, Nicoli F (2002) Magnetic resonance spectroscopy study of glycine pathways in nonketotic hyperglycinemia. Pediatr Res 52:292–300

    Article  CAS  PubMed  Google Scholar 

  21. Dobyns WB (1989) Agenesis of the corpus callosum and gyral malformations are frequent manifestations of nonketotic hyperglycinemia. Neurology 39:817–820

    Article  CAS  PubMed  Google Scholar 

  22. Bekiesiñska-Figatowska M, Rokicki D, Walecki J (2001) MRI in nonketotic hyperglycinaemia: case report. Neuroradiology 43:792–793

    Article  Google Scholar 

  23. Manel L, Houneida ZBA et al (2012) A rare inborn error of metabolism associated with a Dandy–Walker malformation. Acta Neurol Belg 112:425–426

    Article  PubMed  PubMed Central  Google Scholar 

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Funding

No funding was received for this study.

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Authors and Affiliations

  1. Radiodiagnosis Department, Faculty of Medicine, Ain-Shams University, 9 Lotfi Elsayed St. Ain-Shams University Staff Buildings, Cairo, 11657, Egypt

    Shaimaa Abdelsattar Mohammad

  2. Medical Genetics Unit, Pediatric Department, Faculty of Medicine, Ain-Shams University, Cairo, Egypt

    Heba Salah Abdelkhalek

Authors
  1. Shaimaa Abdelsattar Mohammad
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  2. Heba Salah Abdelkhalek
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Correspondence to Shaimaa Abdelsattar Mohammad.

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The authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in the studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

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Informed consent was obtained from all individual participants included in the study.

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Mohammad, S.A., Abdelkhalek, H.S. Nonketotic hyperglycinemia: spectrum of imaging findings with emphasis on diffusion-weighted imaging. Neuroradiology 59, 1155–1163 (2017). https://doi.org/10.1007/s00234-017-1913-0

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  • DOI: https://doi.org/10.1007/s00234-017-1913-0

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