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The EEGs of infants with citrullinemia
Insights
Infants with citrullinemia experienced vomiting and lethargy, with severe cases developing convulsions. Prompt treatment including dialysis and dietary changes saved them, though long-term neurological issues persisted.
Area of Science:
- Biochemistry
- Pediatric Neurology
- Genetics
Background:
- Citrullinemia is a rare urea cycle disorder.
- Neonatal hyperammonemia can cause severe neurological damage.
Abstract:
Three female infants with citrullinemia were followed clinically, biochemically and by electroencephalography. All three had episodes of vomiting, lethargy and hyperammonemia shortly after birth. The two 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 EEGs 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 years revealed mild spasticity, mental retardation and, in one case, cortical atrophy.