Vitamins, not surgery: spinal fluid testing in hemispheric epilepsy.
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.
Parikh
Sumit
S
Centers for Pediatric Neurology & Epilepsy, Neuroscience Institute, Cleveland Clinic, Cleveland, OH 44195, USA. parikhs@ccf.org
Hyland
Keith
K
Lachhwani
Deepak K
DK
D000444:Aldehyde Dehydrogenase / Q000235:genetics; D004569:Electroencephalography; D005260:Female; D005492:Folic Acid / Q000008:administration & dosage; D007839:Functional Laterality / Q000502:physiology*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods; D009154:Mutation / Q000235:genetics; D011732:Pyridoxal Phosphate / Q000008:administration & dosage; D013226:Status Epilepticus / Q000175:diagnosis* / Q000178:diet therapy / Q000235:genetics / Q000601:surgery; D014815:Vitamins
D014815:Vitamins; D011732:Pyridoxal Phosphate; D005492:Folic Acid; C089507:ALDH7A1 protein, human; D000444:Aldehyde Dehydrogenase