Avtor/Urednik		Paro-Panjan, Darja; Pečarič-Meglič, Nuška; Neubauer, David
Naslov		A case of Zellweger syndrome with extensive MRI abnormalities and unusual EEG findings
Tip		članek
Vir		Clin Electroencephalogr
Vol. in št.		Letnik 32, št. 1
Leto izdaje		2001
Obseg		str. 28-31
Jezik		eng
Abstrakt		Differential diagnosis in a newborn with dysmorphic features and profound neurologic dysfunction should include the cerebro-hepato-renal syndrome of Zellweger. Its distinct clinical features, markedly elevated plasma levels of very long chain fatty acids and characteristic radiological findings support the diagnosis, which can now be confirmed by genetic markers. Quite consistent abnormalities of the neurophysiological studies in this syndrome have also been reported. We report a case with typical clinical and biochemical findings in whom distinctive brain MRI abnormalities were found. The results of neurophysiological studies with an unusual EEG pattern of continuous negative vertex sharp waves and spikes are discussed. We believe that such a pattern could be considered as a pathognomonic EEG finding, especially in cases of Zellweger syndrome with extensive brain abnormalities and may even be closely associated with cortical dysplasias.
Deskriptorji		ZELLWEGER SYNDROME MAGNETIC RESONANCE IMAGING ELECTROENCEPHALOGRAPHY INFANT, NEWBORN DIAGNOSIS, DIFFERENTIAL FATAL OUTCOME