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KMID : 1038820180210020134
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Pediatric Gastroenterology, Hepatology & Nutrition
2018 Volume.21 No. 2 p.134 ~ p.140
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Chylomicron Retention Disease: a Description of a New Mutation in a Very Rare Disease
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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
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Abstract
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Chylomicron retention disease, also known as Anderson’s disease, is a rare hereditary hypocholesterolemic dis-order, recessive inherited, characterized by nonspecific symptoms as abdominal distension, steatorrhea, and vomit-ing 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 de-scribed [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 irrever-sible and desvantating complications.
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KEYWORD
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Chylomicron retention disease, Hereditary hypocholesterolemic disorder, Steatorrhea, Failure to thrive, SAR1B gene
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