[Abetalipoproteinemia (author's transl)].
A 21/2-years-old Greek girl with marked failure to thrive and steatorrhea diagnoses to suffer from abetalipoproteinemia by the dissecting microscope appearance of a white intestinal mucosa. This specific finding is due to storage of lipids in the enterocytes. Another typical finding is the acanthocytosis in blood smears. Serum lipids  were studied in detail in the patient and her relatives; there was a marked reduction of the low and very low density lipoproteins in the patient only (LDL/VLDL). The most characteristic finding is the lack of apolipoprotein B.
D000012:Abetalipoproteinemia / Q000175:diagnosis* / Q000473:pathology; D001706:Biopsy; D002446:Celiac Disease / Q000175:diagnosis; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007413:Intestinal Mucosa / Q000473:pathology; D007583:Jejunum / Q000473:pathology; D008077:Lipoproteins, LDL / Q000097:blood; D008079:Lipoproteins, VLDL / Q000097:blood; D008286:Malabsorption Syndromes / Q000175:diagnosis
D008077:Lipoproteins, LDL; D008079:Lipoproteins, VLDL
Abetalipoproteinämie.