Magnetic resonance findings in a neonate with nonketotic hyperglycinemia: case report

J Comput Assist Tomogr. 2010 Sep-Oct;34(5):762-5. doi: 10.1097/RCT.0b013e3181e846d7.

Abstract

We present brain imaging and spectroscopy data in a neonate with a confirmed classic form of nonketotic hyperglycinemia (NKH), an autosomal-recessive metabolic disorder characterized by accumulation of glycine. To our knowledge, this is the first report of such complete analysis of the changes seen on conventional magnetic resonance imaging, diffusion-weighted imaging, and magnetic resonance spectroscopy at such an early age. The findings in a neonate are consistent with reports in older children with NKH, confirming that pathological changes typical for NKH can be seen in the first postnatal week.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anisotropy
  • Diffusion Magnetic Resonance Imaging
  • Female
  • Glycine / metabolism
  • Humans
  • Hyperglycinemia, Nonketotic / metabolism
  • Hyperglycinemia, Nonketotic / pathology*
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Magnetic Resonance Spectroscopy

Substances

  • Glycine