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Progressive Encephalopathy in a Child with Cerebral Folate Deficiency Syndrome

Department of Pediatrics, Division of Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, Utah, joshua.bonkowsky{at}hsc.utah.edu

Vincent T. Ramaekers, MD, PhD

Department of Pediatric Neurology, University Hospital Liège, Belgium

Edward V. Quadros, PhD

Department of Biochemistry, State University of New York Downstate Medical Center, Brooklyn, New York

Michael Lloyd, MD

Department of Pediatrics, Division of Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, Utah

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.

Key Words: encephalopathy • coma • seizures • developmental delay • cerebral folate deficiency

This version was published on December 1, 2008

Journal of Child Neurology, Vol. 23, No. 12, 1460-1463 (2008)
DOI: 10.1177/0883073808318546


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