Progressive encephalopathy in a child with cerebral folate deficiency syndrome.
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.
Bonkowsky
Joshua L
JL
Department of Pediatrics, Division of Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, Utah 84108, USA. joshua.bonkowsky@hsc.utah.edu
Ramaekers
Vincent T
VT
Quadros
Edward V
EV
Lloyd
Michael
M
D001927:Brain Diseases / Q000134:cerebrospinal fluid / Q000209:etiology*; D002540:Cerebral Cortex / Q000378:metabolism*; D018450:Disease Progression; D004569:Electroencephalography / Q000379:methods; D005260:Female; D005494:Folic Acid Deficiency / Q000134:cerebrospinal fluid / Q000150:complications* / Q000473:pathology*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D012640:Seizures / Q000209:etiology; D013763:Tetrahydrofolates / Q000134:cerebrospinal fluid
D013763:Tetrahydrofolates