Chylomicron retention disease: A rare cause of chronic diarrhea.
Chylomicron retention disease (CRD) is a rare autosomal recessive hereditary hypocholesterolemic disorder. The disease most frequently presents in infants and is characterized by a lipid malabsorption syndrome with steatorrhea, chronic diarrhea, and growth retardation. The disease is characterized by normal fasting serum triglyceride levels combined with the absence of apolipoprotein (apo) B48 and chylomicrons after a fat load. In this report, we describe the clinical, laboratory, and histological data as well as the molecular DNA analysis of a 12-month-old girl from Tunisia with CRD. The patient was treated with a low-fat diet and fat-soluble vitamin supplementation resulting in significant improvement.
Hedi Chaker Hospital, Department of pediatrics, 3029 Sfax, Tunisia; Faculty of medicine, Sfax, Tunisia. Electronic address: benameursalma@gmail.com.
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Ben Ameur
Hedi Chaker Hospital, Department of pediatrics, 3029 Sfax, Tunisia; Faculty of medicine, Sfax, Tunisia.
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Aloulou
Hedi Chaker Hospital, Department of pediatrics, 3029 Sfax, Tunisia; Faculty of medicine, Sfax, Tunisia.
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Jlidi
Hedi Chaker Hospital, Department of pediatrics, 3029 Sfax, Tunisia; Faculty of medicine, Sfax, Tunisia.
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Kamoun
Hedi Chaker Hospital, Department of pediatrics, 3029 Sfax, Tunisia; Faculty of medicine, Sfax, Tunisia.
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Chabchoub
Centre de Biologie Est, UF Dyslipidemia Laboratory, 69677 Bron cedex, France.
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Di Filippo
Hedi Chaker Hospital, Department of pediatrics, 3029 Sfax, Tunisia; Faculty of medicine, Sfax, Tunisia.
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Sfaihi
Hedi Chaker Hospital, Department of pediatrics, 3029 Sfax, Tunisia; Faculty of medicine, Sfax, Tunisia.
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Hachicha
D002908:Chronic Disease; D003967:Diarrhea / Q000209:etiology*; D005183:Failure to Thrive / Q000209:etiology; D005260:Female; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D007223:Infant; D008286:Malabsorption Syndromes / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D020559:Monomeric GTP-Binding Proteins / Q000235:genetics; D009154:Mutation
C513282:SAR1B protein, human; D020559:Monomeric GTP-Binding Proteins