Abstract Details

Title Successful remission with ACTH after early therapeutic pyridoxine fails to prevent the development of infantile spasms in ALDH7A-1-related epilepsy

Topic Child Neurology and Developmental Neurology

Presentation(s) P12 - Poster Session 12 (5:30 PM-6:30 PM)

Poster/Presentation
Number 6-003

Background Pyridoxine dependent epilepsy (PDE) is a rare cause of infantile epileptic encephalopathy (EE), affecting approximately 1:65,000 live births. PDE results from a deficiency in antiquitin, encoded by ALDH7A-1. PDE classically presents in the neonatal period with refractory seizures that robustly respond to pyridoxine supplementation. Epileptic spasms (including IS) are uncommon, reported in less than 20% of children with PDE. While trials of pyridoxine have been recommended for IS of unknown etiology, it remains unclear if early pyridoxine treatment can prevent the development of IS or whether standard therapy can induce IS remission in children with PDE despite therapeutic pyridoxine.

Objective To describe the occurrence and response to treatment in a rare presentation of infantile spasms (IS).

Design/Methods N/A

Results We present a child with ALDH7A1-related IS. On day of life (DOL) 7, he presented with respiratory distress and dyskinetic movements. EEG demonstrated frequent electrographic-only focal seizures, refractory to anti-seizure medications. There was progression to burst-suppression by DOL 8. After 100 mg intravenous pyridoxine, the background improved and there were no further seizures. EEG on DOL 21 demonstrated excessive multifocal sharp transients but normal background. He was discharged on pyridoxine 30 mg/kg/d, arginine, and a lysine restricted diet. At 5 months, he presented with IS and a Burden of AmplitudeS and Epileptiform Discharges (BASED) score of 5 (definite EE). An additional 100mg intravenous pyridoxine was given without EEG change. He started high-dose prednisolone but IS persisted; repeat EEG at 10 days demonstrated probable EE (BASED 4). High-dose natural adrenocorticotropic hormone (ACTH) induced clinical remission in 3 days. An overnight EEG normalized (BASED 0).

Conclusions Treatment with standard of care pyridoxine as well as arginine and lysine restricted diet is not sufficient to prevent development of IS in PDE. Children with PDE who develop IS despite ongoing therapeutic pyridoxine should receive standard therapy such as ACTH.

Authors/Disclosures
Darrah Haffner, MD (Nationwide Children's Hospital) PRESENTER	Dr. Haffner has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Naiser Law Office.
Jorge A. Vidaurre, MD (Nationwide Children's Hospital - OSU)	Dr. Vidaurre has nothing to disclose.
John R. Mytinger, MD (The Ohio State University, Nationwide Children'S Hospital)	Dr. Mytinger has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Elsevier.