Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features.
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.
Serrano
Mercedes
M
Neuropediatric Department, Hospital Sant Joan de Déu, Barcelona, Spain.
García-Silva
María Teresa
MT
Martin-Hernandez
Elena
E
O'Callaghan
Maria del Mar
Mdel M
Quijada
Pilar
P
Martinez-Aragón
Ana
A
Ormazábal
Aida
A
Blázquez
Alberto
A
Martín
Miguel A
MA
Briones
Paz
P
López-Gallardo
Ester
E
Ruiz-Pesini
Eduardo
E
Montoya
Julio
J
Artuch
Rafael
R
Pineda
Mercedes
M
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
D001679:Biogenic Amines; D011506:Proteins; D013763:Tetrahydrofolates; C005984:5-methyltetrahydrofolate; D006719:Homovanillic Acid