A neurophysiological study of children with the cerebro-hepato-renal syndrome of Zellweger.
The aim of this study was to describe the EEGs, brainstem auditory evoked potentials and somatosensory evoked potentials obtained in eleven children with the Zellweger syndrome. In six out of the eleven patients BAEPs and in five of them SSEPs were performed. Severe abnormalities could be demonstrated, reflecting diffuse cerebral dysfunction as well as long myelinated fiber tracts dysfunction. In four of six patients no response was obtained by BAEPs and in two the central conduction time was delayed. The specific (until 60 ms) and aspecific (after 60 ms) complex of the SSEPs was delayed or the potential could not be elicited. During sleep as well as wakefulness characteristic abnormalities of the EEGs were found in nine patients. These abnormalities consisted of continuous negative sharp waves and spikes at the vertex.
D001921:Brain / Q000503:physiopathology*; D001928:Brain Diseases, Metabolic / Q000235:genetics* / Q000503:physiopathology; D001933:Brain Stem / Q000503:physiopathology; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics* / Q000503:physiopathology; D025063:Chromosome Disorders; D004569:Electroencephalography; D005072:Evoked Potentials, Auditory; D005073:Evoked Potentials, Somatosensory; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D008475:Median Nerve / Q000503:physiopathology; D009123:Muscle Hypotonia / Q000235:genetics* / Q000503:physiopathology; D013577:Syndrome