Pediatric Gastroenterology, Hepatology & Nutrition

The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition (대한소아소화기영양학회)
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Chylomicron Retention Disease: a Description of a New Mutation in a Very Rare Disease

  • Ferreira, Helena (Department of Pediatric, Hospital da Senhora da Oliveira) ;
  • Ramos, Raquel Nunez (Department of Pediatric and Gastroenterology, Hepatology, Nutritional Support and Liver Transplant Unit, Hospital Universitario Vall d'Hebron) ;
  • Quan, Cinthia Flores (Department of Pediatric and Gastroenterology, Hepatology, Nutritional Support and Liver Transplant Unit, Hospital Universitario Vall d'Hebron) ;
  • Ferreiro, Susana Redecillas (Department of Pediatric and Gastroenterology, Hepatology, Nutritional Support and Liver Transplant Unit, Hospital Universitario Vall d'Hebron) ;
  • Ruiz, Vanessa Cabello (Department of Pediatric and Gastroenterology, Hepatology, Nutritional Support and Liver Transplant Unit, Hospital Universitario Vall d'Hebron) ;
  • Goni, Javi Juamperez (Department of Pediatric and Gastroenterology, Hepatology, Nutritional Support and Liver Transplant Unit, Hospital Universitario Vall d'Hebron) ;
  • Bernabeu, Jesus Quintero (Department of Pediatric and Gastroenterology, Hepatology, Nutritional Support and Liver Transplant Unit, Hospital Universitario Vall d'Hebron) ;
  • Canton, Oscar Segarra (Department of Pediatric and Gastroenterology, Hepatology, Nutritional Support and Liver Transplant Unit, Hospital Universitario Vall d'Hebron) ;
  • Beltran, Marina Alvarez (Department of Pediatric and Gastroenterology, Hepatology, Nutritional Support and Liver Transplant Unit, Hospital Universitario Vall d'Hebron)
  • Received : 2017.07.18
  • Accepted : 2017.10.14
  • Published : 2018.04.15
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Abstract

Chylomicron retention disease, also known as Anderson's disease, is a rare hereditary hypocholesterolemic disorder, recessive inherited, characterized by nonspecific symptoms as abdominal distension, steatorrhea, and vomiting associated with failure to thrive. We describe a patient with failure to thrive, chronic diarrhea and steatorrhea who the diagnosis of chylomicron retention disease was established after several months of disease progression. The genetic study confirmed a homozygosity mutation in SAR1B gene, identifying a mutation never previous described [c.83_84delTG(p.Leu28Argfs*7)]. With this case report the authors aim to highlight for this very rare cause of failure to thrive and for the importance of an attempting diagnosis, in order to start adequate management with low fat diet supplemented with fat-soluble vitamins, reverting the state of malnutrition and avoiding possible irreversible and desvantating complications.

Keywords

References

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