Epidemiology of pyridoxine dependent seizures in the Netherlands

• Published in: Archives of disease in childhood Vol. 90; no. 12; pp. 1293 - 1296
• Main Authors: Been, J V, Bok, L A, Andriessen, P, Renier, W O
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health 01-12-2005; BMJ; BMJ Publishing Group Ltd; BMJ Publishing Group LTD
• Subjects: Age; Biological and medical sciences; Births; Causes of; Cerebral Palsy; Cooperation; Departments; Epidemiology; Epilepsy; Epilepsy - diagnosis; Epilepsy - drug therapy; Epilepsy - epidemiology; Female; General aspects; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy; Humans; Incidence; Infant, Newborn; Language Skills; Male; Medical sciences; Miscellaneous; Nervous system (semeiology, syndromes); Netherlands - epidemiology; Neurology; Original; Patients; Prevention and actions; Public health. Hygiene; Public health. Hygiene-occupational medicine; Pyridoxine; Pyridoxine - therapeutic use; Seizures; Seizures (Medicine); Special Schools; Vitamin B Complex - therapeutic use; Vitamin B6; Netherlands; Europe; United Kingdom > UK; Ireland; Pediatrics; Nervous system diseases; Convulsion; Epilepsy; Central nervous system disease; B-Vitamins; Pyridoxine; Neurological disorder; Epidemiology; Public health; Cerebral disorder
• ISSN: 0003-9888; 1468-2044
• DOI: 10.1136/adc.2005.075069

Background: Pyridoxine dependent epilepsy is a rare cause of seizures in childhood. The diagnosis is made on clinical criteria, that in many cases are never met. Therefore, epidemiological data on pyridoxine dependency are scarce. Aims: To study the epidemiology of pyridoxine dependent epilepsy in the Netherlands, and to determine whether the diagnosis is based on the appropriate criteria. Methods: Nationwide all departments of paediatrics (n = 113) and of paediatric or neonatal neurology (n = 17) were asked to report cases of pyridoxine dependent seizures. Birth incidences were calculated using national data on live births from 1991 to 2003. Results: Response was received from 67% of paediatric departments, including all university hospitals and 94% of child neurology departments. Thirteen patients were reported. Four definite (31%), three probable (23%), and four possible cases (31%) were identified. Two cases (15%) did not meet criteria for either of these groups. The birth incidence was 1:396 000 for definite and probable cases and 1:252 000 when possible cases are included. Conclusions: Thus far, epidemiological data on pyridoxine dependent seizures were only available from the UK and Ireland. A higher incidence was found in the Netherlands, in accordance with earlier suggestions of a regional difference. The study shows that the diagnosis is often made without performance of a formal trial of withdrawal. The importance of confirming the diagnosis, concerning the consequences as for individual prognosis, the potential side effects of prolonged pyridoxine substitution, and the possibility of treating the mother in case of future pregnancies are emphasised.