Chylomicron Retention Disease: a Description of a New Mutation in a Very Rare Disease.
10.5223/pghn.2018.21.2.134
- Author:
Helena FERREIRA
1
;
Raquel Nuñez RAMOS
;
Cinthia Flores QUAN
;
Susana Redecillas FERREIRO
;
Vanessa Cabello RUIZ
;
Javi JUAMPÉREZ GOÑI
;
Jesus QUINTERO BERNABEU
;
Oscar SEGARRA CANTÓN
;
Marina ÁLVAREZ BELTRAN
Author Information
1. Department of Pediatric, Hospital da Senhora da Oliveira, Guimarães, Portugal. helena-of@hotmail.com
- Publication Type:Case Report
- Keywords:
Chylomicron retention disease;
Hereditary hypocholesterolemic disorder;
Steatorrhea;
Failure to thrive,;
SAR1B gene
- MeSH:
Diagnosis;
Diarrhea;
Diet;
Disease Progression;
Failure to Thrive;
Humans;
Malnutrition;
Rare Diseases*;
Steatorrhea;
Vitamins;
Vomiting
- From:Pediatric Gastroenterology, Hepatology & Nutrition
2018;21(2):134-140
- CountryRepublic of Korea
- Language:English
-
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.
