Low Insulin-Like Growth Factor (IGF-1) in the Cerebrospinal Fluid of Children with Progressive Encephalopathy, Hypsarrhythmia, and Optic Atrophy (PEHO) Syndrome and Cerebellar Degeneration


Address correspondence and reprint requests to Dr. R. Riikonen at Department of Child Neurology, Children's Hospital, P.O.B. 1777, FIN-70211 Kuopio, Finland. Raili.Riikonen@uku.fi


Summary: Purpose: In patients with progressive encephalopathy, hypsarrhythmia, and optic atrophy (PEHO) syndrome, the pathophysiology underlying early progressive cerebellar and brainstem degeneration and severe epilepsy is unknown. Because insulin-like growth factor (IGF)-1 has been shown significantly to promote survival of cerebellar neurons, we wanted to see if the IGF system played a role in the pathogenesis of cerebellar atrophy.

Methods: We used a sensitive enzyme immunoassay kit for measuring cerebrospinal fluid (CSF) IGF-1 and insulin-like growth-binding protein (IGFBP)-3 in four groups of patients: PEHO syndrome patients (eight), PEHO-like patients (seven), age-matched controls (31), and patients with other types of cerebellar atrophy (11).

Results: Patients with PEHO syndrome and those with other progressive, degenerative cerebellar diseases had lower levels of CSF IGF-1 than the controls with other neurologic diseases. The CSF IGF-1 also allowed us to differentiate the “true” PEHO patients from the “PEHO-like” patients (those with similar clinical symptoms but without the typical neuroophthal-mologic or neuroradiologic findings). The concentrations of IGFBP-3 did not significantly differ in any of the patient or control groups studied.

Conclusions: CSF IGF-1 levels might be used as a marker of the degeneration of neurons in specific areas.