Vitamins, Not Surgery: Spinal Fluid Testing in Hemispheric Epilepsy - 05/08/11
⁎ 
, Keith Hyland, PhD †, Deepak K. Lachhwani, MD Centers for Pediatric Neurology & Epilepsy, Neuroscience Institute, Cleveland Clinic, Cleveland, Ohio Communications should be addressed to: Dr. Parikh; Neurogenetics & Neurometabolism; Neuroscience Institute, S71; Cleveland Clinic; 9500 Euclid Avenue; Cleveland, OH 44195.Abstract |
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.
Le texte complet de cet article est disponible en PDF.Plan
Vol 40 - N° 6
P. 477-479 - juin 2009 Retour au numéro
Article précédent
- Hypoplasia of Deep Cerebellar Nuclei in Joubert Syndrome
- Giorgi Kuchukhidze, Markus Rauchenzauner, Thaddaeus Gotwald, Andreas Janecke, Eugen Trinka
- Isolated, Primary Spinal Epidural Hodgkin’s Disease in a Child
- Mohammad Samadian, Shifteh Vahidi, Fatemeh Khormaee, Haleh Ashraf
Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
Déjà abonné à cette revue ?