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.