Pediatr Gastroenterol Hepatol Nutr.  2018 Apr;21(2):134-140. 10.5223/pghn.2018.21.2.134.

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

• Ferreira H
• Ramos RN
• Quan CF
• Ferreiro S
• Ruiz VC
• Juampérez Goñi J
• Quintero Bernabeu J
• Segarra Cantón O
• Álvarez Beltran M

• KMID: 2409365
• DOI: http://doi.org/10.5223/pghn.2018.21.2.134

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.

Keyword

Chylomicron retention disease; Hereditary hypocholesterolemic disorder; Steatorrhea; Failure to thrive,; SAR1B gene

MeSH Terms

Diagnosis
Diarrhea
Diet
Disease Progression
Failure to Thrive
Humans
Malnutrition
Rare Diseases*
Steatorrhea
Vitamins
Vomiting
Vitamins