Progressive encephalopathy in a child with cerebral folate deficiency syndrome

J Child Neurol. 2008 Dec;23(12):1460-3. doi: 10.1177/0883073808318546. Epub 2008 Oct 14.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain Diseases / cerebrospinal fluid
  • Brain Diseases / etiology*
  • Cerebral Cortex / metabolism*
  • Disease Progression
  • Electroencephalography / methods
  • Female
  • Folic Acid Deficiency / cerebrospinal fluid
  • Folic Acid Deficiency / complications*
  • Folic Acid Deficiency / pathology*
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Seizures / etiology
  • Tetrahydrofolates / cerebrospinal fluid

Substances

  • Tetrahydrofolates