Infantile spasms represent an age-dependent response of the immature brain to a wide variety of insults. An unselected group of children with infantile spasms were reviewed to determine etiology; a metabolic work-up was undertaken if the etiology was unclear from history and examination (cryptogenic). Of the 56 infants, 34 had a recognizable etiology (symptomatic), 1 had normal development (idiopathic), and 21 had cryptogenic infantile spasms. Among the latter, results of plasma lactate and pyruvate or urine organic acids were available in 17. In 2 infants (monozygotic twins), mitochondrial DNA testing revealed the relatively common A3243G mitochondrial mutation. In these twins and 11 of the remaining 15, body fluid metabolite testing suggested possible defective energy metabolism. Our twins and previous reports suggest that mitochondrial disorders should be considered in the differential diagnosis of infantile spasms. Among our cases remaining cryptogenic, signs of abnormal energy metabolism were prevalent, suggesting that metabolic derangements may be common causes or secondary consequences of infantile spasms.

No abstract

Permethrin is a synthetic Type I pyrethroidal neurotoxic pesticide that has been responsible for accidental animal deaths. Despite its widespread use, there are no published case reports on pediatric intensive care unit admissions due to permethrin exposure. We report the unusual and varied presentations of permethrin toxicity in three siblings presenting to a tertiary care pediatric intensive care unit (PICU). While there is no standard clinical diagnostic test for permethrin, accurate diagnosis was obtained by rapidly analyzing the offending agent. In the absence of a known antidote for permethrin, supportive management was initiated and resulted in a favorable outcome for all three siblings.