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.
OBJECTIVE
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 neuroophthalmologic 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.
Riikonen
R
R
Department of Child Neurology, Children's Hospital, University of Kuopio, Finland. Raili.Riikonen@uku.fi
Somer
M
M
Turpeinen
U
U
D001284:Atrophy / Q000175:diagnosis / Q000473:pathology; D015415:Biomarkers; D001927:Brain Diseases / Q000134:cerebrospinal fluid* / Q000175:diagnosis; D002526:Cerebellar Diseases / Q000134:cerebrospinal fluid* / Q000175:diagnosis / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D007334:Insulin-Like Growth Factor I / Q000134:cerebrospinal fluid*; D008297:Male; D009896:Optic Atrophy / Q000134:cerebrospinal fluid* / Q000175:diagnosis; D013036:Spasms, Infantile / Q000134:cerebrospinal fluid* / Q000175:diagnosis; D013577:Syndrome
D015415:Biomarkers; D007334:Insulin-Like Growth Factor I