Kumar Praveen, Gupta Vijay K, Mishra Devendra
Department of Pediatrics, Dr Ram Manohar Lohia Hospital, New Delhi, India.
J Paediatr Child Health. 2007 Jul-Aug;43(7-8):571-2. doi: 10.1111/j.1440-1754.2007.01142.x.
Pyridoxine dependency is a rare autosomal-recessive disorder causing intractable seizures in neonates and infants. Life-long therapy with pyridoxine is required for prevention of seizure recurrence and for an optimum intellectual outcome. With the availability of newer biochemical confirmatory tests, the conventional pyridoxine-withdrawal test is being used less frequently for diagnosis. This report describes an infant whose parents were non-compliant with pyridoxine therapy and proposes that pyridoxine-withdrawal test may be useful in demonstrating to parents the need for life-long pyridoxine therapy, thereby reducing non-compliance.
维生素B6依赖症是一种罕见的常染色体隐性疾病，可导致新生儿和婴儿出现难治性癫痫发作。为预防癫痫复发并获得最佳智力发育结果，需要终身使用维生素B6进行治疗。随着更新的生化确诊试验的出现，传统的维生素B6撤药试验在诊断中的使用频率越来越低。本报告描述了一名父母不依从维生素B6治疗的婴儿，并提出维生素B6撤药试验可能有助于向父母证明终身维生素B6治疗的必要性，从而减少不依从情况。
