Brain Lactic Alkalosis in Aicardi-Goutières Syndrome

N. J. Robertson, P. Stafler, R. Battini, J. Cheong, M. Tosetti, M. C. Bianchi, I. J. Cox, F. M. Cowan, G. Cioni

Research output: Contribution to journalArticle

Abstract

Aicardi-Goutières syndrome is a rare progressive encephalopathy characterized by acquired microcephaly, basal ganglia calcification, and chronic CSF lymphocytosis, raised levels of interferon alpha in CSF and plasma and chill-blain type lesions. A possible mechanism of injury is cytokine related microangiopathy. We report brain imaging and proton (1H) and phosphorus-31 (31P) magnetic resonance spectroscopy (MRS) findings during the first year after birth in two patients. In patient 1 the evolution of brain metabolite ratios and intracellular pH obtained from serial 1H (long TE) and 31P MRS studies are described; in patient 2 a single 1H (short TE) MRS study is described. Imaging findings included basal ganglia calcifications, cerebral atrophy, and leukodystrophy. The MRS results demonstrated that Aicardi-Goutières syndrome is associated with reduced NAA/Cr, reflecting decreased neuronal/ axonal density or viability, increased myo-inositol/Cr, reflecting gliosis or osmotic stress and a persisting brain lactic alkalosis. A brain lactic alkalosis has also been observed in those infants surviving perinatal hypoxia-ischaemia but with a poor neurodevelopmental outcome. A possible mechanism leading to brain alkalosis is up-regulation of the Na +/H+ transporter by focal areas of ischaemia related to the microangiopathy or by pro-inflammatory cytokines. Such brain alkalosis may be detrimental to cell survival and may increase glycolytic rate in astrocytes leading to an increased production of lactate.

Original languageEnglish
Pages (from-to)20-26
Number of pages7
JournalNeuropediatrics
Volume35
Issue number1
DOIs
Publication statusPublished - Feb 2004

Keywords

  • Aicardi-Goutières syndrome
  • Alkalosis
  • Brain intracellular pH
  • Brain lactate
  • Magnetic resonance imaging
  • Magnetic resonance spectroscopy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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    Robertson, N. J., Stafler, P., Battini, R., Cheong, J., Tosetti, M., Bianchi, M. C., Cox, I. J., Cowan, F. M., & Cioni, G. (2004). Brain Lactic Alkalosis in Aicardi-Goutières Syndrome. Neuropediatrics, 35(1), 20-26. https://doi.org/10.1055/s-2004-815787