[Anderson's disease. Clinical and morphologic study of 7 cases].
Anderson's disease is a rare autosomic recessive condition involving the transport of fat through the intestinal mucosa, which could be due to a defect in the intestinal form (B48) of apolipoprotein B. Isolated cases and one important series only have been reported. We wish here to complete the description of the disease. Seven children (age 6 months to 13 years at time of diagnosis) were followed for one month to 15 years. They presented with a malabsorption syndrome, malnutrition, fatty diarrhea (steatorrhea 4-18 g/24 h), failure to thrive (height -1 to -5.5 SD for age) and sometimes disappearance of deep tendon reflexes. Biologically they had signs of malabsorption, hypocalciuria, osteoporosis, low serum iron, decreased levels of vitamins A and E, and hypo-alpha- (50-127 mg/100 ml) and beta- (73-175 mg/100 ml) lipoproteinemia due to decreased levels of plasma cholesterol (40-70 mg/100 ml), and phospholipids (34-67 mg/100 ml); apolipoproteins A1 (26-69 mg/100 ml and B (21-44 mg/100 ml) were also low. After a fatty meal, triglycerides and apolipoproteins did not increase and chylomicrons did not appear. Jejunal biopsies showed the characteristic aspect of enterocytes loaded with lipid droplets. On electron microscopy, these fat droplets were seen in the cytoplasm but neither in the endoplasmic reticulum and the Golgi complex nor in the intercellular spaces. They did not appear to be enclosed in membranes and differed from chylomicrons by their size and density. The disease could thus be due to an abnormal apolipoprotein B48, which would prevent its binding to triglycerides and thus the formation of chylomicrons.
Lacaille
F
F
Département de Pédiatrie, CNRS UA 213, Hôpital des Enfants-Malades, Paris.
Bratos
M
M
Bouma
M E
ME
Jos
J
J
Schmitz
J
J
Rey
J
J
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005190:Family; D005260:Female; D006130:Growth Disorders / Q000209:etiology; D006801:Humans; D007223:Infant; D007408:Intestinal Absorption; D007413:Intestinal Mucosa / Q000378:metabolism*; D008052:Lipid Metabolism, Inborn Errors / Q000378:metabolism*; D008297:Male; D008854:Microscopy, Electron; D009748:Nutrition Disorders / Q000209:etiology
La maladie d'Anderson. Etude clinique et morphologique de 7 cas.