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See Latest ArticlesVitamins, Not Surgery: Spinal Fluid Testing in Hemispheric Epilepsy
Pediatric Neurology , 05/26/09
Parikh S et al. - Metabolic testing in spinal fluid is not routinely obtained in every patient with refractory epilepsy or status epilepticus. A 9-month-old girl who was referred for surgical treatment of refractory status epilepticus suggestive of a right hemispheric focus; cranial magnetic resonance imaging was unremarkable. The patient received a metabolic evaluation according to institutional protocol and was noted to have a spinal fluid peak characteristically seen in folinic acid-responsive epilepsy. Subsequent testing revealed a deleterious mutation in the ALDH7A1 gene. At last follow-up, the patient was seizure free on folinic acid and pyridoxal 5?-phosphate supplementation. Surgery was not performed. Metabolic testing in spinal fluid is strongly urged in all patients with refractory epilepsy or status epilepticus when an underlying etiology is not known.
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