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Progressive Encephalopathy in a Child With Cerebral Folate Deficiency Syndrome
Joshua L. Bonkowsky, MD, PhD1*,
Vincent T. Ramaekers, MD, PhD2,
Edward V. Quadros, PhD3,
and
Michael Lloyd, MD1
1 Department of Pediatrics, Division of Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, Utah
2 Department of Pediatric Neurology, University Hospital Liège, Belgium
3 Department of Biochemistry, State University of New York Downstate Medical Center, Brooklyn, New York
* To whom correspondence should be addressed. E-mail: jbonkowsky{at}gmail.com.
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Abstract |
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Cerebral folate deficiency syndrome, a recently recognized cause of developmental delay, regression, and seizures, is associated with autoantibodies against folate receptors. A female child with developmental delay and a history of seizures who presented with seizures and unexplained coma is reported. Extensive testing to evaluate the patient’s coma and subsequent developmental regression were unrevealing until the results of her cerebrospinal fluid neurotransmitter analysis returned. These showed low levels of methyltetrahydrofolate, the active metabolite of folate in the cerebrospinal fluid; subsequently, elevated titers of autoantibodies against folate receptors were found. Despite treatment with folinic acid, she developed intractable epilepsy and severe developmental delay.
First published on October 14, 2008, doi:10.1177/0883073808318546
Journal of Child Neurology 2008;23:1460.
A more recent version of this article appeared on December 1, 2008
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