title: Citrullinemia with an atypical presentation: persistent hiccups. Case report.
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.
authors.affiliation: División de Neonatología, Hospital Universitario Maternal Zekai Tahir Burak, Turquía.
authors.forename: Halil
authors.initials: H
authors.lastname: Degirmencioglu
authors.affiliation: División de Neonatología, Hospital Universitario Maternal Zekai Tahir Burak, Turquía.
authors.forename: Mehmet Yekta
authors.initials: MY
authors.lastname: Oncel
authors.affiliation: Departamento de Pediatría, Facultad de Medicina, Sutcu Imam University, Kahramanmaraş, Turquía.
authors.forename: Sadik
authors.initials: S
authors.lastname: Yurttutan
authors.affiliation: División de Neonatología, Hospital Universitario Maternal Zekai Tahir Burak, Turquía.
authors.forename: Sadrettin
authors.initials: S
authors.lastname: Ekmen
authors.affiliation: División de Neonatología, Hospital Universitario Maternal Zekai Tahir Burak, Turquía.
authors.forename: Serife
authors.initials: S
authors.lastname: Suna Oguz
authors.affiliation: División de Neonatología, Hospital Universitario Maternal Zekai Tahir Burak, Turquía.
authors.forename: Nurdan
authors.initials: N
authors.lastname: Uras
authors.affiliation: Departamento de Pediatría, Facultad de Medicina, Sutcu Imam University, Kahramanmaraş, Turquía.
authors.forename: Ugur
authors.initials: U
authors.lastname: Dilmen
mesh_terms: D020159:Citrullinemia / Q000150:complications / Q000175:diagnosis*; D006606:Hiccup / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D008297:Male