Naghavi, ErfanDavari, AfshanBahadori, Amir RezaRazmafrooz, MohammadAmiriFard, HamedSabzgolin, ImanRanji, Sara2024-12-152024-12-15202401752-194710.1186/s13256-024-04876-72-s2.0-85209073969https://doi.org/10.1186/s13256-024-04876-7https://hdl.handle.net/20.500.14517/7519Naghavi, Erfan/0000-0003-0953-0916Background Pyridoxamine 5 '-phosphate oxidase deficiency is a rare inborn error of vitamin B6 metabolism that presents with drug-resistant epileptic seizures. However, the condition is responsive to supplementation with the active vitamin B6 metabolite pyridoxal 5 '-phosphate and, in some cases, pyridoxine. Case presentation In this case report, a 10-year-old Iranian male of Fars ethnicity came to a regional hospital in Tehran, Iran with a chief complaint of tic-like movement. He had a history of unintentional, repetitive, and stereotypic movements of both arms since the age of 4 years. The physical examination depicted facial dimorphism. During admission, the patient experienced habitual hypermotor seizures and generalized tonic-clonic seizures. Ictal electroencephalography demonstrated a generalized background attenuation and bursts of generalized, predominantly left-sided, biphasic spike-wave complexes. Whole-genome sequencing revealed a pyridoxamine 5 '-phosphate oxidase deficiency as the underlying cause of the drug-resistant seizures, resulting in a low serum level of pyridoxal 5 '-phosphate. The patient underwent pyridoxine supplementation therapy, which ultimately resolved his seizures. At 6 months, he was seizure free. Conclusion Physicians ought to be aware of manifestations of vitamin B6 deficiency such as mimicking tic and consider it in the differential for drug-resistant epilepsy.eninfo:eu-repo/semantics/closedAccessPNPODrug-resistant epilepsySeizureVitamin B-6A case reportArticleQ2181WOS:00135558260000139543701