Intrahepatic Cholestasis due to Citrin Deficiency

Date of submission: 23-10-2019 | Date of acceptance: 02-03-2020 | Published: 01-07-2020

Authors

  • Maria do Rosário Stilwell Pediatric Service, Department of Women, Children and Adolescents, Hospital de Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, Lisboa, Portugal
  • Claudia Silva Pediatric Service, Department of Women, Children and Adolescents, Hospital de Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, Lisboa, Portugal
  • Inês Madureira Pediatric Service, Department of Women, Children and Adolescents, Hospital de Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, Lisboa, Portugal
  • Rita Bellegarde Machado Pediatric Service, Department of Women, Children and Adolescents, Hospital de Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, Lisboa, Portugal
  • Sara Nóbrega Pediatric Special Respiratory and Nutritional Care Unit, Department of Women, Children and Adolescents, Centro Hospitalar Universitário de Lisboa Central, Lisboa, Portugal
  • António Pedro Campos Pediatric Gastroenterology Unit, Department of Women, Children and Adolescents, Hospital de Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa, Portugal
  • Ana Cristina Ferreira Reference Center of Inherited Metabolic Diseases, Centro Hospitalar Universitário de Lisboa Central, Lisboa, Portugal

DOI:

https://doi.org/10.25754/pjp.2020.18759

Abstract

We report a case of Neonatal Intrahepatic Cholestasis due to Citrin Deficiency in a 2-month-old female of Chinese descent who presented with jaundice and acholic stool. She had poor weight gain, axial hypotonia and large anterior fontanelle with no dysmorphia or hepatosplenomegaly. Laboratory findings showed cholestasis, elevated transaminases, hypoalbuminemia, prolonged prothrombin time, anaemia and galactosuria. Obstructive, infectious and genetic causes (Allagille syndrome, alpha-1-antitrypsin deficiency, cystic fibrosis) were excluded, as well as galactosemia.

Plasma amino acids chromatography exhibited elevation of citrulline, tyrosine, methionine and threonine, raising a strong suspicion of Citrin Deficiency. The patient was started on a lactose-free formula with medium-chain triglycerides and fat-soluble vitamins, with rapid clinical and laboratory improvement. Genetic analysis confirmed compound heterozygosity in the SLC25A13

We emphasize the importance of considering this hypothesis in the differential diagnosis of neonatal cholestasis, especially in patients of Asian origin, given the possibility of therapeutic intervention and prevention of complications.

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Author Biographies

Maria do Rosário Stilwell, Pediatric Service, Department of Women, Children and Adolescents, Hospital de Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, Lisboa, Portugal

Paediatric Service, Department of Women, Children and Adolescents

Claudia Silva, Pediatric Service, Department of Women, Children and Adolescents, Hospital de Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, Lisboa, Portugal

Paediatric Service, Department of Women, Children and Adolescents

Inês Madureira, Pediatric Service, Department of Women, Children and Adolescents, Hospital de Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, Lisboa, Portugal

Paediatric Service, Department of Women, Children and Adolescents, 

Rita Bellegarde Machado, Pediatric Service, Department of Women, Children and Adolescents, Hospital de Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, Lisboa, Portugal

Paediatric Service, Department of Women, Children and Adolescents

Sara Nóbrega, Pediatric Special Respiratory and Nutritional Care Unit, Department of Women, Children and Adolescents, Centro Hospitalar Universitário de Lisboa Central, Lisboa, Portugal

Paediatric Gastroenterology-hepatology and Nutrition Unit, Department of Women, Children and Adolescents

António Pedro Campos, Pediatric Gastroenterology Unit, Department of Women, Children and Adolescents, Hospital de Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa, Portugal

Paediatric Gastroenterology Unit, Department of Women, Children and Adolescents

Ana Cristina Ferreira, Reference Center of Inherited Metabolic Diseases, Centro Hospitalar Universitário de Lisboa Central, Lisboa, Portugal

Reference Center of Inherited Metabolic Diseases

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Published

2020-07-09

Issue

Vol. 51 No. 3 (2020)

Section

Case reports

License

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

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