摘要：The aim of this study was to analyse glycosphingolipid expression in cerebrospinal fluid (CSF) from one idiopathic West syndrome (IWS) infant, one with Reye like syndrome, and one with congenital hydrocephalus, in comparison to control group (n=7) using highly sensitive thin-layer chromatography-immunostaining methods. Gangliotetraose-series gangliosides (acidic glycosphingolipids) were not detected in CSF of infant with idiopathic West syndrome and infant with congenital hydrocephalus. CSF of infant with IWS showed traces of neolacto-tetraose ganglioside fractions, which were absent in all other CSF examined. In addition, lactosylceramide fraction, and one ceramide fraction were highly expressed only in IWS CSF. These results confirmed previously described lack of gangliotetraose-series gangliosides in IWS patient and for the first time is described increased expression of neolacto-series glycosphingolipids in IWS patient. Since follow up until the age of five years showed almost normal IWS patient psychomotor development, the discribed shift of glycosphingolipid expression may implicate on transient inhibition of specific glycosyl transferases in the age of seven months.
关键词：idiopathic West syndrome; Reye like syndrome; congenital hydrocephalus; cerebrospinal fluid; glycosphingolipids
