Brain lactic alkalosis in Aicardi-Goutières syndrome.

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.

• Authors: N J Robertson, P Stafler, R Battini, J Cheong, M Tosetti, M C Bianchi, I J Cox, F M Cowan, G Cioni
• Journal: Neuropediatrics (Neuropediatrics) Vol. 35 Issue 1 Pg. 20-6 (Feb 2004) ISSN: 0174-304X [Print] Germany
• PMID: 15002048 (Publication Type: Case Reports, Journal Article)

Chemical References

• Aspartic Acid
• Lactic Acid
• N-acetylaspartate
• Creatinine

Topics

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