Intrahepatic Cholestasis due to Citrin Deficiency

  • Maria do Rosário Stilwell Centro Hospitalar Universitario Lisboa Central - Hospital Dona Estefânia
  • Claudia Silva Centro Hospitalar Universitario Lisboa Central, EPE - Hospital Dona Estefânia
  • Inês Madureira Centro Hospitalar Universitario Lisboa Central - Hospital Dona Estefânia
  • Rita Bellegarde Machado Centro Hospitalar Universitario Lisboa Central - Hospital Dona Estefânia
  • Sara Nóbrega Centro Hospitalar Universitario Lisboa Central - Hospital Dona Estefânia
  • António Pedro Campos Centro Hospitalar Universitario Lisboa Central - Hospital Dona Estefânia
  • Ana Cristina Ferreira Centro Hospitalar Universitario Lisboa Central - Hospital Dona Estefânia

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, Centro Hospitalar Universitario Lisboa Central - Hospital Dona Estefânia

Paediatric Service, Department of Women, Children and Adolescents

Claudia Silva, Centro Hospitalar Universitario Lisboa Central, EPE - Hospital Dona Estefânia

Paediatric Service, Department of Women, Children and Adolescents

Inês Madureira, Centro Hospitalar Universitario Lisboa Central - Hospital Dona Estefânia

Paediatric Service, Department of Women, Children and Adolescents, 

Rita Bellegarde Machado, Centro Hospitalar Universitario Lisboa Central - Hospital Dona Estefânia

Paediatric Service, Department of Women, Children and Adolescents

Sara Nóbrega, Centro Hospitalar Universitario Lisboa Central - Hospital Dona Estefânia

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

António Pedro Campos, Centro Hospitalar Universitario Lisboa Central - Hospital Dona Estefânia

Paediatric Gastroenterology Unit, Department of Women, Children and Adolescents

Ana Cristina Ferreira, Centro Hospitalar Universitario Lisboa Central - Hospital Dona Estefânia

Reference Center of Inherited Metabolic Diseases

Published
2020-07-09
Section
Case reports