Reference : Progressive encephalopathy in a child with cerebral folate deficiency syndrome.
Scientific journals : Article
Human health sciences : Neurology
Progressive encephalopathy in a child with cerebral folate deficiency syndrome.
Bonkowsky, Joshua L [> > > >]
RAMAEKERS, Vincent mailto [Centre Hospitalier Universitaire de Liège - CHU > > Pédiatrie]
Quadros, Edward V [> > > >]
Lloyd, Michael [> > > >]
Journal of Child Neurology
BC Decker
Yes (verified by ORBi)
Hamilton ON
[en] 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
[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.
National Institutes of Health - NIH, Children's health research center at University of Utah

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