1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-7-53-a 10.15844/pedneurbriefs-7-7-6 Metabolic Disorders and Seizures Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Folate Deficiency, Porphyria, and Seizures http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 07 1993 01 07 2016 7 7 53 53 Copyright: © 1993 The Author(s) 1993 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Folate deficiency and acute intermittent porphyria in a 12-year-old boy

A 12 year old, learning-disabled boy with epilepsy was admitted to the University of Connecticut Health Center, Farmington, CT because of symptomatic folate deficiency and newly diagnosed acute intermittent porphyria.

 Folate Deficiency Porphyria Seizures

A 12 year old, learning-disabled boy with epilepsy was admitted to the University of Connecticut Health Center, Farmington, CT because of symptomatic folate deficiency and newly diagnosed acute intermittent porphyria. Seizures and global developmental delays were noted by 12 months of age. Seizures required multiple drug combinations, and optimal control was obtained with carbamazepine, valproate, and methsuximide. The patient was hospitalized because of abdominal pain, vomiting, anorexia, and behavioral changes. He developed hypertension, hyponatremia, and anemia. The urine became brown in color, positive for urobilinogen, and showed elevated coproporphyrins, uroporphyrins, aminolevulinic acid, and porphobilinogen (PBG). Erythrocyte and maternal PBG deaminase measurements were decreased. RBC folate levels were deficient. Oral folate, 0.5 mg/d, resulted in correction of the anemia and no recurrence of porphyric crises. [1]

COMMENT. Serum folate should be determined in patients with acute intermittent porphyria requiring chronic anticonvulsant therapy. A folate deficiency induced by the AEDs may further reduce red blood cell production and precipitate a porphyric crisis. Folate supplements are beneficial as an adjunct to the carbohydrate loading in therapy for a porphyric crisis or its prevention.

 DiMario FJ Jr Quinn JJ Zalneraitis EL Whiteman DA Russman BS Folate deficiency and acute intermittent porphyria in a 12-year-old boy Neurology 1993 Jul 43 7 1438 1439 10.1212/WNL.43.7.1438 8327156