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Case Reports
. 2005 Mar 22;64(6):1088-90.
doi: 10.1212/01.WNL.0000154641.08211.B7.

Cerebral folate deficiency with developmental delay, autism, and response to folinic acid

P Moretti  1 , T Sahoo, K Hyland, T Bottiglieri, S Peters, D del Gaudio, B Roa, S Curry, H Zhu, R H Finnell, J L Neul, V T Ramaekers, N Blau, C A Bacino, G Miller, F Scaglia
Affiliations
Case Reports

Cerebral folate deficiency with developmental delay, autism, and response to folinic acid

P Moretti et al. Neurology. .

Abstract

The authors describe a 6-year-old girl with developmental delay, psychomotor regression, seizures, mental retardation, and autistic features associated with low CSF levels of 5-methyltetrahydrofolate, the biologically active form of folates in CSF and blood. Folate and B12 levels were normal in peripheral tissues, suggesting cerebral folate deficiency. Treatment with folinic acid corrected CSF abnormalities and improved motor skills.

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