THE EEGs OF INFANTS WITH CITRULLINEMIA

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Abstract
Three female infants with citrullinemia were followed clinically, biochemically and by electroencephalography. All 3 had episodes of vomiting, lethargy and hyperammonemia shortly after birth. The 2 more severe cases developed convulsions. They were saved by peritoneal dialysis or repeated exchange transfusions followed by dietary adjustment. Multifocal spikes or repetitive paroxysmal activity of various kinds were seen in the EEG at times of crisis. There was a lag in the EEG returning to normal after ammonia levels had returned to normal. Citrulline remained elevated in all cases. Follow-up over yr revealed mild spasticity, mental retardation and in 1 case, cortical atrophy.

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