title: Elevated CSF lactate in the Rett syndrome: cause or consequence?
abstract: We report values for CSF and blood lactate and acid-base balance in 8 girls with the Rett syndrome and correlate the findings with respiratory dysfunction. Three patients had elevated CSF lactate values; their hyperventilation (HV) was so intensive that the acid-base balance showed respiratory alkalosis with an abnormally low base excess. One of these three patients had normal CSF lactate and acid-base balance before she developed HV. Two patients were so young that they had not yet developed HV and their CSF lactate values were normal. One patient had elevated CSF lactate when she was younger and her HV was more intensive, but now her CSF and blood lactate were normal; her acid-base balance showed mild hypocapnia but was otherwise normal. Thus, in the Rett syndrome, CSF lactate elevation seems to be a secondary phenomenon connected with the intensive HV and alkalosis rather than a sign of any mitochondrial disorder.
authors.affiliation: Department of Child Neurology, Children's Castle Hospital, Helsinki, Finland.
authors.forename: R
authors.initials: R
authors.lastname: Lappalainen
authors.forename: R S
authors.initials: RS
authors.lastname: Riikonen
mesh_terms: D000137:Acid-Base Imbalance / Q000097:blood / Q000134:cerebrospinal fluid; D000293:Adolescent; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D006985:Hyperventilation / Q000097:blood / Q000134:cerebrospinal fluid; D007223:Infant; D007773:Lactates / Q000097:blood / Q000134:cerebrospinal fluid*; D019344:Lactic Acid; D012140:Respiratory Tract Diseases / Q000097:blood / Q000134:cerebrospinal fluid; D015518:Rett Syndrome / Q000097:blood / Q000134:cerebrospinal fluid*
chemical_list: D007773:Lactates; D019344:Lactic Acid