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Article Dans Une Revue Journal of Pediatric Endocrinology and Metabolism Année : 2012

Chylomicron retention disease: report of two cases from a Greek Island

Résumé

Chylomicron retention disease (CRD), or Anderson disease, is a rare, hereditary cause of fat malabsorption. It is one of the familial hypocholesterolaemia syndromes, along with homozygous hypobetalipoproteinaemia (HBL) and abetalipoproteinaemia (ABL). We report clinical, laboratory and histological data as well as molecular DNA analysis in the case of a 4-month-old boy with failure to thrive and steatorrhea who was diagnosed with CRD. His mother's first cousin, who was diagnosed as hypobetalipoproteinaemia 30 years ago, was also reviewed and his diagnosis was revised to CRD. Both patients were treated with a low fat diet and supplementation with fat-soluble vitamins resulting in significant improvement. In conclusion, CRD is a well-defined cause of fat malabsorption and can be distinguished from other forms of familial hypocholesterolaemia because of its specific lipid profile.

Dates et versions

hal-02652328 , version 1 (29-05-2020)

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Paraskevi Papadogeorgou, Eleftheria Roma, Agnes Sassolas, Irene Orfanou, Adamantia Malliarou, et al.. Chylomicron retention disease: report of two cases from a Greek Island. Journal of Pediatric Endocrinology and Metabolism, 2012, 25 (11-12), pp.1191 - 1194. ⟨10.1515/jpem-2012-0243⟩. ⟨hal-02652328⟩
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