Chylomicron Retention Disease: a Description of a New Mutation in a Very Rare Disease

• Published in: Pediatric gastroenterology, hepatology & nutrition Vol. 21; no. 2; pp. 134 - 140
• Main Authors: Ferreira, Helena, Ramos, Raquel Nunez, Quan, Cinthia Flores, Ferreiro, Susana Redecillas, Ruiz, Vanessa Cabello, Goni, Javi Juamperez, Bernabeu, Jesus Quintero, Canton, Oscar Segarra, Beltran, Marina Alvarez
• Format: Journal Article
• Language: Korean
• Published: 2018
• Subjects: Hereditary hypocholesterolemic disorder; Failure to thrive; SAR1B gene; Steatorrhea; Chylomicron retention disease
• ISSN: 2234-8646; 2234-8840

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.