Citrullinemia with an atypical presentation: persistent hiccups. Case report. / Citrullinemia with an atypical presentation: persistent hiccups. Case report.
Arch Argent Pediatr
; 112(5): e206-8, 2014 Oct.
Article
in Spanish
| BINACIS
| ID: bin-133468
ABSTRACT
We report an infant who developed encephalopathy within the first 3 days of life. He had persistent hiccups that progressed to deep coma 72 hours after admission. The sepsis parameters and cerebrospinal fluid examination (CSF) were normal. The metabolic evaluation confirmed hyperammonemia, and hypercitrullinemia. The ratio of CSF/plasma glycine concentration was normal. This did not agree with our initial diagnosis of nonketotic hyperglycinemia where hiccups is present more often. Neonatal onset of argininosuccinic acid synthetase deficiency (ASD; citrullinemia) should be brought in mind in the differential diagnosis of encephalopathy in association with hiccups in the neonatal period suggesting inborn errors of metabolism.
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Collection:
National databases
/
Argentina
Database:
BINACIS
Language:
Spanish
Journal:
Arch Argent Pediatr
Year:
2014
Document type:
Article