title: Cholestasis and Hepatic Failure in a Neonate: A Case Report of Severe Pyruvate Kinase Deficiency.
abstract: Unexpected severe cholestasis is part of the presentation in some neonates with hemolytic anemia but is usually self-resolving. Here we report the case of a neonate with pyruvate kinase deficiency (PKD) who presented severe hemolytic anemia at birth, characterized by a rapidly progressive and severe cholestasis with normal γ-glutamyl transpeptidase level associated with hepatic failure. After an extensive investigation to rule out contributing conditions explaining the severity of this patient's clinical presentation, PKD has remained the sole identified etiology. The patient abruptly died of sepsis at 3 months of age before a planned splenectomy and ongoing evaluation for liver transplantation. To the best of our knowledge, only a few similar cases of severe neonatal presentation of PKD complicated with severe hepatic failure and cholestasis have been reported.
authors.affiliation: Divisions of Neonatology, and francois.olivier.1@ulaval.ca.
authors.forename: François
authors.initials: F
authors.lastname: Olivier
authors.affiliation: Gastroenterology, Department of Pediatrics, CHU de Québec, Université Laval, Québec City, Québec, Canada; and.
authors.forename: Anna
authors.initials: A
authors.lastname: Wieckowska
authors.affiliation: Divisions of Neonatology, and.
authors.forename: Bruno
authors.initials: B
authors.lastname: Piedboeuf
authors.affiliation: Division of Gastroenterology and Hepatology, Department of Pediatrics, Sainte Justine Hospital, Montréal, Québec, Canada.
authors.forename: Fernando
authors.initials: F
authors.lastname: Alvarez
mesh_terms: D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000150:complications*; D002779:Cholestasis / Q000209:etiology*; D006801:Humans; D007231:Infant, Newborn; D017093:Liver Failure / Q000209:etiology*; D008297:Male; D011770:Pyruvate Kinase / Q000172:deficiency*; D015323:Pyruvate Metabolism, Inborn Errors / Q000150:complications*; D012720:Severity of Illness Index
chemical_list: D011770:Pyruvate Kinase