Published in:
Open Access 01-12-2024 | Epilepsy | Case report
Late-onset drug-resistant epilepsy in pyridoxamine 5′-phosphate oxidase deficiency: a case report
Published in: Journal of Medical Case Reports | Issue 1/2024
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Background
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.
