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

Figure

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  Fig. 1 Upper endoscopy showing a white coating on the duodenal mucosa.

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  Fig. 2 Electronic microscopic examination showing enterocytes with accumulation of lipid droplets.

Reference

1. Jaffe AC. Failure to thrive: current clinical concepts. Pediatr Rev. 2011; 32:100–107. PMID: 21364013.

2. Peretti N, Sassolas A, Roy CC, Deslandres C, Charcosset M, Castagnetti J, et al. Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers. Orphanet J Rare Dis. 2010; 5:24. PMID: 20920215.

3. Okada T, Miyashita M, Fukuhara J, Sugitani M, Ueno T, Samson-Bouma ME, et al. Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence. Orphanet J Rare Dis. 2011; 6:78. PMID: 22104167.

4. Peretti N, Roy CC, Sassolas A, Deslandres C, Drouin E, Rasquin A, et al. Chylomicron retention disease: a long term study of two cohorts. Mol Genet Metab. 2009; 97:136–142. PMID: 19285442.

5. Sassolas A, Filippo MD, Aggerbeck LP, Peretti N, Samson-Bouma ME. Cooper David, editor. Anderson's Disease/Chylomicron Retention Disease and Mutations in the SAR1B Gene, Mutations in Human Genetic Disease. InTech;2012. DOI: 10.5772/45975. Available from: https://www.intechopen.com/books/mutations-in-human-genetic-disease/anderson-s-disease-chylomicron-retention-disease-and-mutationsin-the-sar1b-gene.

6. Papadogeorgou P, Roma E, Sassolas A, Orfanou I, Malliarou A, Sakka S, et al. Chylomicron retention disease: report of two cases from a Greek Island. J Pediatr Endocrinol Metab. 2012; 25:1191–1194. PMID: 23329770.

7. Ben Ameur S, Aloulou H, Jlidi N, Kamoun F, Chabchoub I, Di Filippo M, et al. Chylomicron retention disease: a rare cause of chronic diarrhea. Arch Pediatr. 2016; 23:735–737. PMID: 27266643.

8. Magnolo L, Najah M, Fancello T, Di Leo E, Pinotti E, Brini I, et al. Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. Gene. 2013; 512:28–34. PMID: 23043934.

9. Desaldeleer C, Henno S, Bruneau B, Dabadie A. Chylomicron retention disease. Dig Liver Dis. 2013; 45:e3. PMID: 22959141.

10. Silvain M, Bligny D, Aparicio T, Laforêt P, Grodet A, Peretti N, et al. Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities. Clin Genet. 2008; 74:546–552. PMID: 18786134.

11. Cefalù AB, Calvo PL, Noto D, Baldi M, Valenti V, Lerro P, et al. Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene. Metabolism. 2010; 59:463–467. PMID: 19846172.