Article (Scientific journals)
Progressive encephalopathy in a child with cerebral folate deficiency syndrome.
Bonkowsky, Joshua L; RAMAEKERS, Vincent; Quadros, Edward V et al.
2008In Journal of Child Neurology, 23 (12), p. 1460-3
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Keywords :
Brain Diseases/cerebrospinal fluid/etiology; Cerebral Cortex/metabolism; Disease Progression; Electroencephalography/methods; Female; Folic Acid Deficiency/cerebrospinal fluid/complications/pathology; Humans; Infant; Magnetic Resonance Imaging; Seizures/etiology; Tetrahydrofolates/cerebrospinal fluid
Abstract :
[en] 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.
Disciplines :
Neurology
Author, co-author :
Bonkowsky, Joshua L
RAMAEKERS, Vincent ;  Centre Hospitalier Universitaire de Liège - CHU > Pédiatrie
Quadros, Edward V
Lloyd, Michael
Language :
English
Title :
Progressive encephalopathy in a child with cerebral folate deficiency syndrome.
Publication date :
2008
Journal title :
Journal of Child Neurology
ISSN :
0883-0738
eISSN :
1708-8283
Publisher :
BC Decker, Hamilton ON, Canada
Volume :
23
Issue :
12
Pages :
1460-3
Peer reviewed :
Peer Reviewed verified by ORBi
Funders :
NIH - National Institutes of Health [US-MD] [US-MD]
USU - Utah State University [US-UT] [US-UT]
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since 02 February 2012

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