Estimation of prevalence and incidence of infantile spasms in Taiwan using capture-recapture method.

PURPOSE: To estimate the prevalence, incidence, and case-fatality of infantile spasms (IS) in Taiwan. METHODS: A retrospective cohort of patients with IS was obtained from one medical center to identify 69 IS cases from 1985 to 1997. This cohort, in conjunction with the claimed data from the National Health Insurance, was used to estimate the prevalence and incidence of IS by capture-recapture design, taking the case-fatality of IS into account. RESULTS: The prevalence rate of IS for aged 0-9 years was 0.046 per thousand. The incidence rate was estimated as 6 over 100,000 per year in Taiwan. Of the 69 IS cases, 8 deaths were ascertained. The case-fatality rate was 11.6%. The leading cause of death was status epilepticus. CONCLUSIONS: We have demonstrated an efficient method to estimate the incidence and prevalence rates of IS in Taiwan. Our results help to make a clear understanding of the disease burden of IS in this society.

Maple syrup urine disease presenting with neonatal status epilepticus: report of one case.

Maple syrup urine disease (MSUD) is a rare inborn error of the branched chain amino acid metabolism, which can be classified as classical, intermediate, intermittent, and thiamine responsive types. We report a 16-day-old boy who suffered from difficult feeding, persistent metabolic acidosis, and tricycling movement of the lower legs. Status epilepticus was the initial impression, but classical type MSUD was later diagnosed. Under the diagnosis, dietary therapy effectively prevented further neurological deterioration. However, amino acid deficiency manifested as acrodermatitis enteropathica-like skin rash occurred once. Early parenteral glucose supplementation and periodic plasma amino acid monitoring are very important in the management of metabolic diseases, including MSUD.