THE EEGs OF INFANTS WITH CITRULLINEMIA
| Autor: | Neil R. M. Buist, Rudolf C.H. Engel |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
medicine.medical_treatment
Electroencephalography Peritoneal dialysis Lethargy chemistry.chemical_compound Developmental Neuroscience Ammonia Citrulline Humans Medicine Spasticity Amino Acid Metabolism Inborn Errors medicine.diagnostic_test business.industry Citrullinemia Infant Newborn Hyperammonemia medicine.disease chemistry Anesthesia Pediatrics Perinatology and Child Health Vomiting Female Neurology (clinical) medicine.symptom business |
| Zdroj: | Developmental Medicine & Child Neurology. 27:199-206 |
| ISSN: | 1469-8749 0012-1622 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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