Neonatal cholestasis due to citrin deficiency: diagnostic pitfalls

Patryk Lipiński; Dorota  Jurkiewicz; Elżbieta Ciara; Rafał Płoski; Sabina Więcek; Anna Bogdańska; Teresa Stradomska; Piotr Socha; Dariusz Rokicki; Anna Tylki-Szymańska; Irena Jankowska

doi:10.18388/abp.2020_5202

Patryk Lipiński Department of Pediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Warsaw, Poland https://orcid.org/0000-0002-1849-8375
Dorota Jurkiewicz Department of Medical Genetics, The Children’s Memorial Health Institute, Warsaw, Poland https://orcid.org/0000-0003-3710-632X
Elżbieta Ciara Department of Medical Genetics, The Children’s Memorial Health Institute, Warsaw, Poland https://orcid.org/0000-0002-1065-7968
Rafał Płoski Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland https://orcid.org/0000-0001-6286-5526
Sabina Więcek Department of Pediatrics, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland https://orcid.org/0000-0001-9870-6674
Anna Bogdańska Department of Biochemistry, Radioimmunology and Experimental Medicine, The Children’s Memorial Health Institute, Warsaw, Poland
Teresa Stradomska Department of Biochemistry, Radioimmunology and Experimental Medicine, The Children’s Memorial Health Institute, Warsaw, Poland https://orcid.org/0000-0002-5585-413X
Piotr Socha Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children’s Memorial Health Institute, Warsaw, Poland
Dariusz Rokicki Department of Pediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Warsaw, Poland https://orcid.org/0000-0002-9736-2838
Anna Tylki-Szymańska Department of Pediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Warsaw, Poland https://orcid.org/0000-0002-8935-1768
Irena Jankowska Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children’s Memorial Health Institute, Warsaw, Poland https://orcid.org/0000-0001-6847-9570

DOI: https://doi.org/10.18388/abp.2020_5202

Abstract

Citrin deficiency can manifest in newborns or infants as neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). The paper presents a case of Polish NICCD patient presenting with low birth weight, failure to thrive, prolonged cholestatic jaundice with coagulopathy and hypoalbuminemia with normal results of MS/MS newborn screening but with high blood citrulline level observed at 3 months of age. Unreported findings included N-hypoglycosylation and increased serum very-long-chain fatty acids (VLCFA), probably secondary to liver impairment. Final diagnosis was established based on whole-exome sequencing (WES) analysis.