Neonate-onset ornithine transcarbamylase deficiency / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 431-435, 2023.
Artigo
em Chinês
| WPRIM
| ID: wpr-981975
ABSTRACT
The male neonate in this case study was admitted to the hospital at 15 hours of age due to respiratory distress for 15 hours and poor response for 3 hours after resuscitation from asphyxia. The neonate was highly unresponsive, with central respiratory failure and seizures. Serum ammonia was elevated (>1 000 μmol/L). Blood tandem mass spectrometry revealed a significant decrease in citrulline. Rapid familial whole genome sequencing revealed OTC gene mutations inherited from the mother. Continuous hemodialysis filtration and other treatments were given. Neurological assessment was performed by cranial magnetic resonance imaging and electroencephalogram. The neonate was diagnosed with ornithine transcarbamylase deficiency combined with brain injury. He died at 6 days of age after withdrawing care. This article focuses on the differential diagnosis of neonatal hyperammonemia and introduces the multidisciplinary management of inborn error of metabolism.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Convulsões
/
Citrulina
/
Doença da Deficiência de Ornitina Carbomoiltransferase
/
Hiperamonemia
/
Eletroencefalografia
Limite:
Humanos
/
Masculino
/
Recém-Nascido
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2023
Tipo de documento:
Artigo
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