CSF nerve growth factor (β-NGF) is increased but CSF insulin-like growth factor-(IGF-1) is normal in children with tuberous sclerosis and infantile spasms.

Tuberous sclerosis is associated with epilepsy that is often refractory. We examined cerebrospinal fluid (CSF) concentrations for neurotrophins, nerve growth factor (β-NGF) and insulin-like growth factor (IGF-1) in children with infantile spasms between 1997 and 2010. We classified the patients as follows: tuberous sclerosis (n = 5), cryptogenic spasms (n = 6), postinfectious spasms (n = 5) and other symptomatic spasms (n = 22). We had 22 age- and sex-matched controls for CSF-NGF and 14 for CSF-IGF-1. The median of CSF-NGF was higher in those with tuberous sclerosis, 56 (minimum-maximum, 8.0-131) ng/L, in relative to age- and sex-matched controls, 6.7 (0.0-22) ng/L, and symptomatic infantile spasms, 0.0 (0.0-4.5) ng/L or cryptogenic cases of infantile spasms, 6.2 (3.9-8.8) ng/L, respectively. CSF-NGF were highest in children with postinfectious aetiology, 408 (89-778) ng/L. CSF-IGF-1 of tuberous sclerosis, 0.65 (0.35-0.98) μg/L, did not differ from the cryptogenic spasms, 0.68 (0.32-0.87) μg/L, or from age- and sex-matched controls 0.52 (0.22-0.77) μg/L. Patients with tuberous sclerosis and cryptogenic spasms had normal development prior the ACTH therapy. We suggest that increased CSF-NGF might indicate a persistent activation of inflammatory pathways in cortical tubers in tuberous sclerosis and this would reflect in CSF concentrations.