RESUMO
OBJECTIVE: Our aim was to describe a child with an incomplete form of Kearns-Sayre syndrome who presented profound cerebrospinal fluid (CSF) folate deficiency and his response to folinic acid supplementation METHODS: CSF 5-methyltetrahydrofolate was analyzed by HPLC with fluorescence detection and mitochondrial DNA deletions by southern blot hybridization. RESULTS: Cranial magnetic resonance imaging showed a leukoencephalopathy. Profound CSF 5-methyltetrahydrofolate deficiency was observed with normal blood folate values and decreased CSF/serum folate ratio, suggesting a transport defect across the blood-brain barrier. Folinic acid treatment was established, and after 1 year clinical response to folinic supplementation was remarkable, with almost normal white matter image. INTERPRETATION: The clinical response after folinic therapy highlights the need for the study of cerebral folate deficiency in patients with mitochondrial disorders and white matter lesions.
Assuntos
DNA Mitocondrial/genética , Deficiência de Ácido Fólico/genética , Deleção de Genes , Síndrome de Kearns-Sayre/genética , Química Encefálica/genética , Criança , Análise Mutacional de DNA/métodos , Ácido Fólico/sangue , Ácido Fólico/líquido cefalorraquidiano , Deficiência de Ácido Fólico/complicações , Deficiência de Ácido Fólico/patologia , Humanos , Síndrome de Kearns-Sayre/líquido cefalorraquidiano , Síndrome de Kearns-Sayre/etiologia , Síndrome de Kearns-Sayre/patologia , Imageamento por Ressonância Magnética/métodos , Masculino , Músculos/metabolismoRESUMO
We studied lactate and pyruvate concentrations in CSF and blood of a patient with Kearns-Sayre syndrome (KSS), 3 patients with ocular myopathy and 11 normal control subjects. We found significant elevation of lactate and pyruvate in the CSF of the patient with KSS, suggesting a disorder of CNS lactate-pyruvate metabolism.