A rare presentation characterized by epileptic spasms in ALDH7A1, pyridox(am)ine-5’-phosphate oxidase (PNPO), and PLPBP deficiency

Aim To analyze the presentation of epileptic spasms (ES) in vitamin B6-dependent epilepsy. Methods We analyzed data from a cohort of 54 cases with PDE, 13 cases with PNPO deficiency, and 2 cases with PLPBP deficiency, and looked for ES among them. Results A total of 11 patients with presentation of ES have been collected. Among them, four patients carried mutations in ALDH7A1, six in PNPO, one in PLPBP. In the PDE and PLPBP deficiency groups, seizures were controlled by pyridoxine, and the remaining one had refractory seizures due to secondary brain atrophy. In the groups with PNPO deficiency, one patient showed seizure-free, three still had infrequent seizures, and two died. In two cases presenting as Ohtahara syndrome (OS), after regular treatment, one showed seizure-free, the others showed a marked decrease in seizure frequency. Interpretation The first standardized trial of pyridoxine is still necessary for patients with ES, and in case of an absent response, an empirical trial of PLP could be followed by. In PNPO deficiency cohort, patients with IS did not respond better to PLP than pyridoxine. Timely and correct treatment could prevent the transformation from OS and infantile spasms (IS) to subsequent epileptic encephalopathy or refractory epilepsy.
Keywords: Epileptic spasm, ALDH7A1, Pyridoxine-dependent epilepsy, Pyridox(am)ine-5’-phosphate oxidase (PNPO) deficiency, PLPBP