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Ann Neurol. 2006 Feb;59(2):394-8.

Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion.

Author information

1
Servicios de Neuropediatría, Bioquímica y Endocrinología, Hospital Sant Joan de Déu, Clínic, Barcelona, Spain. pineda@hsjdbcn.org

Abstract

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.

PMID:
16365882
DOI:
10.1002/ana.20746
[Indexed for MEDLINE]

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