School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran.
J Med Case Rep. 2024 Nov 15;18(1):542. doi: 10.1186/s13256-024-04876-7.
Pyridoxamine 5'-phosphate oxidase deficiency is a rare inborn error of vitamin B metabolism that presents with drug-resistant epileptic seizures. However, the condition is responsive to supplementation with the active vitamin B metabolite pyridoxal 5'-phosphate and, in some cases, pyridoxine.
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.
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.
吡哆醛 5'-磷酸氧化酶缺乏症是一种罕见的维生素 B 代谢先天性错误，表现为耐药性癫痫发作。然而，该病症对维生素 B 代谢物吡哆醛 5'-磷酸和在某些情况下吡哆醇的补充有反应。
在本病例报告中，一名 10 岁的伊朗男性，法尔斯族人，因 Tic 样运动来到伊朗德黑兰的一家地区医院就诊。他从 4 岁开始就有不自主、重复和刻板的双臂运动史。体格检查显示面部畸形。住院期间，患者经历了习惯性多动性癫痫发作和全身性强直阵挛性癫痫发作。发作期脑电图显示背景普遍衰减，并伴有广泛的、主要是左侧的双相尖波-慢波复合波爆发。全基因组测序显示吡哆醛 5'-磷酸氧化酶缺乏症是耐药性癫痫发作的根本原因，导致血清中吡哆醛 5'-磷酸水平降低。患者接受了吡哆醇补充治疗，最终解决了他的癫痫发作。6 个月后，他无癫痫发作。
医生应当意识到维生素 B6 缺乏症的表现，如模仿 Tic，并在耐药性癫痫的鉴别诊断中考虑到这一点。
