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Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion
Author(s) -
Pineda Merce,
Ormazabal Aida,
LópezGallardo Esther,
Nascimento Andres,
Solano Abelardo,
Herrero Maria D.,
Vilaseca Maria A.,
Briones Paz,
Ibáñez Lourdes,
Montoya Julio,
Artuch Rafael
Publication year - 2006
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20746
Subject(s) - folinic acid , leukoencephalopathy , cerebrospinal fluid , mitochondrial dna , medicine , pathology , white matter , kearns–sayre syndrome , magnetic resonance imaging , biology , chemotherapy , biochemistry , fluorouracil , disease , radiology , gene
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. Ann Neurol 2006