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 journalArticlepeer-review

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)20-6
Number of pages7
JournalNeuropediatrics
Volume35
Issue number1
DOIs
Publication statusPublished - Feb 2004

Keywords

  • Alkalosis/metabolism
  • Aspartic Acid/analogs & derivatives
  • Basal Ganglia/pathology
  • Brain/diagnostic imaging
  • Brain Diseases, Metabolic/diagnostic imaging
  • Calcinosis/pathology
  • Creatinine/metabolism
  • Echoencephalography
  • Humans
  • Infant, Newborn
  • Lactic Acid/metabolism
  • Magnetic Resonance Spectroscopy
  • Male
  • Syndrome
  • Tomography, X-Ray Computed

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