A case of Zellweger syndrome with extensive MRI abnormalities and unusual EEG findings

Differential diagnosis in a newborn with dysmorphic features and profound n eurologic dysfunction should include the cerebro-hepato-renal syndrome of Z ellweger. Its distinct clinical features, markedly elevated plasma levels o f very long chain fatty acids and characteristic radiological findings supp ort the diagnosis, which can now be confirmed by genetic markers. Quite con sistent abnormalities of the neurophysiological studies in this syndrome ha ve also been reported. We report a case with typical clinical and biochemic al findings in whom distinctive brain MRI abnormalities were found. The res ults of neurophysiological studies with an unusual EEG pattern of continuou s negative vertex sharp waves and spikes are discussed. We believe that suc h a pattern could be considered as a pathognomonic EEG finding, especially in cases of Zellweger syndrome with extensive brain abnormalities and may e ven be closely associated with cortical dysplasias.