title: Chylomicron retention disease: report of two cases from a Greek Island.
abstract: 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.
authors: 1st Department of Paediatrics, University of Athens Medical Schol , Aghia Sophia Children's Hospital, Thivon and Papadiamantopoulou str., 11527, Athens, Greece.
authors: Paraskevi
authors: P
authors: Papadogeorgou
authors: Eleftheria
authors: E
authors: Roma
authors: Agnès
authors: A
authors: Sassolas
authors: Irene
authors: I
authors: Orfanou
authors: Adamantia
authors: A
authors: Malliarou
authors: Sophia
authors: S
authors: Sakka
authors: Giorgos
authors: G
authors: Chouliaras
mesh_terms: D002914:Chylomicrons / Q000378:metabolism*; D018752:Diet, Fat-Restricted; D019587:Dietary Supplements; D004386:Duodenum / Q000473:pathology / Q000648:ultrastructure; D016099:Endoscopy, Gastrointestinal; D005183:Failure to Thrive / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D005192:Family Health; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007223:Infant; D052439:Lipid Metabolism Disorders / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D008286:Malabsorption Syndromes / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D008297:Male; D045602:Steatorrhea / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D014815:Vitamins / Q000008:administration & dosage
chemical_list: D002914:Chylomicrons; D014815:Vitamins