title: Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features.
abstract: We evaluated cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5-MTHF), biogenic amines, and white matter status in six Kearns-Sayre syndrome (KSS) patients. They presented severe 5-MTHF deficiency. A significant negative correlation was observed between CSF 5-MTHF and protein concentration. CSF homovanillic acid was clearly high. Regarding neuroimaging, the main feature was hyperintensity in the basal ganglia, brainstem, and cerebral/cerebellar white matter. The severity of hemispheric white matter disturbances appeared to be qualitatively associated with 5-MTHF values. The negative correlation between 5-MTHF and proteins supports the hypothesis of impaired choroid plexus function. Interestingly, despite very low 5-MTHF, clearly high neurotransmitter metabolites were found.
authors.affiliation: Neuropediatric Department, Hospital Sant Joan de Déu, Barcelona, Spain.
authors.forename: Mercedes
authors.initials: M
authors.lastname: Serrano
authors.forename: María Teresa
authors.initials: MT
authors.lastname: García-Silva
authors.forename: Elena
authors.initials: E
authors.lastname: Martin-Hernandez
authors.forename: Maria del Mar
authors.initials: Mdel M
authors.lastname: O'Callaghan
authors.forename: Pilar
authors.initials: P
authors.lastname: Quijada
authors.forename: Ana
authors.initials: A
authors.lastname: Martinez-Aragón
authors.forename: Aida
authors.initials: A
authors.lastname: Ormazábal
authors.forename: Alberto
authors.initials: A
authors.lastname: Blázquez
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Martín
authors.forename: Paz
authors.initials: P
authors.lastname: Briones
authors.forename: Ester
authors.initials: E
authors.lastname: López-Gallardo
authors.forename: Eduardo
authors.initials: E
authors.lastname: Ruiz-Pesini
authors.forename: Julio
authors.initials: J
authors.lastname: Montoya
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
authors.forename: Mercedes
authors.initials: M
authors.lastname: Pineda
mesh_terms: D000293:Adolescent; D000328:Adult; D001479:Basal Ganglia / Q000473:pathology; D001679:Biogenic Amines / Q000032:analysis*; D001921:Brain / Q000000981:diagnostic imaging*; D001933:Brain Stem / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D002555:Cerebrospinal Fluid / Q000737:chemistry*; D054022:Cerebrum / Q000473:pathology; D002648:Child; D006719:Homovanillic Acid / Q000134:cerebrospinal fluid; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D011506:Proteins / Q000032:analysis; D011859:Radiography; D013763:Tetrahydrofolates / Q000134:cerebrospinal fluid*; D055815:Young Adult
chemical_list: D001679:Biogenic Amines; D011506:Proteins; D013763:Tetrahydrofolates; C005984:5-methyltetrahydrofolate; D006719:Homovanillic Acid