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Neuropsychiatric Assessment in an Infant with Infantile-Onset Cerebral Folate Deficiency Syndrome

Specialty:

Nephrology, Urology, Obstetrics & Gynecology, Pedatrics, Genetics

Objective:

ICD-10:

Description:

An infant with cerebral folate deficiency has autoantibodies directed against membrane-bound folate receptors in epithelial cells of the choroids plexus. These block the receptors so that folate cannot be transported into the central nervous system.

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