Cases reported "Abetalipoproteinemia"

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1/4. Importance of screening the peripheral smear.

    A 5-year-old boy presented with history of failure to thrive from infancy. There was a history of one sibling death due to similar problems and history of severe abortions in the mother. Routine examination of peripheral smear revealed more than 50% acanthocytes. Based on this tests were streamlined to doing lipid profile and Lipo protein electrophoresis which revealed hypolipidemia and absent beta hypo protein band. Jejunal mucosal biopsy confirmed the diagnosis of A Beta Lipo proteinemia which revealed lipid laden enterocytes. This case illustrates the importance of simple tests like peripheral smear examination in streamlining further tests in the diagnosis of major diseases.
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keywords = enterocytes
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2/4. A case of abetalipoproteinaemia in a Polish family.

    Abetalipoproteinaemia (ABLP) was diagnosed in a brother and sister, 9 and 13 years old, presenting with symptoms of malabsorption during the neonatal period. Both children showed most of the main clinical features of ABLP, including neurological, and ophthalmic symptoms, and mental retardation. Acanthocytosis of erythrocytes was almost complete in the affected children, while in most of the remaining 11 members of their three-generation family, it was found in less than 50% of red blood cells. Absence of apoprotein B and low concentrations of apo A-I and lipids were found only in ABLP-affected children. Among five siblings only the two affected children had ABLP-characteristic lipid storage in enterocytes. The latter features correlated better with clinical symptoms than did the acanthocytosis of erythrocytes.
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keywords = enterocytes
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3/4. Description of two different patients with abetalipoproteinemia: synthesis of a normal-sized apolipoprotein b-48 in intestinal organ culture.

    We describe here two patients, M. P. and S. L., with recessive abetalipoproteinemia. Analysis of restriction fragments of dna from both patients using cDNA probes spanning the entire apolipoprotein B gene revealed no major insertions or deletions. Further, as defined by restriction fragment length polymorphism, abetalipoproteinemia, in these patients, did not appear associated with particular alleles of apolipoprotein B. Northern and dot blot analysis of intestinal mRNA of one patient (M. P.) revealed a normal-sized apolipoprotein B mRNA which was present in slightly reduced amounts. At the cellular level apolipoprotein B was detected in both intestinal and hepatic biopsies, of one patient (S. L.), by immunoenzymatic techniques using polyclonal and monoclonal antibodies to apolipoprotein b-48 and/or B-100. The level of apolipoprotein b-48 appeared to increase in the intestine after a fatty meal. In the other patient (M. P.), although no apolipoprotein B was detected in the enterocytes using similar immunoenzymatic techniques, organ culture experiments using [35S]methionine demonstrated the synthesis of a normal-sized apolipoprotein b-48 which appeared to be normally glycosylated. The glycosylation and processing of two intestinal membrane enzymes, sucrase-isomaltase and aminopeptidase N, were also normal. Although lipids and apolipoprotein b-48 were present intracellularly, no lipoprotein-like particles were observed by electron microscopy in the endoplasmic reticulum, the golgi apparatus, or in the intercellular spaces of intestinal biopsies obtained in the fasted (M. P. and S. L.) or fed state (S. L.). The defect in these cases of abetalipoproteinemia, therefore, does not appear to involve the apolipoprotein B gene nor the synthesis or the glycosylation of the apolipoprotein but instead appears to involve some aspect of lipoprotein assembly or secretion.
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keywords = enterocytes
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4/4. Hypobetalipoproteinemia with accumulation of an apoprotein B-like protein in intestinal cells. Immunoenzymatic and biochemical characterization of seven cases of Anderson's disease.

    We describe here seven cases (from five kindreds) of Anderson's disease, which is characterized by diarrhea, steatorrhea, hypobetalipoproteinemia with low levels of cholesterol, triglycerides, and phospholipids, and failure to secrete chylomicrons after a fat meal. enterocytes isolated from intestinal biopsies of patients after overnight fast showed numerous fat droplets, a histological picture resembling that of abetalipoproteinemia. Immunoenzymatic staining of the enterocytes demonstrated large amounts of material that reacted with a polyclonal antiserum to apolipoprotein B. Further, the immunoreactive material was found to react with several different monoclonal antibodies capable of recognizing both the B100 and B48 forms of apoprotein B, but not with any of several monoclonal antibodies capable of recognizing only B100. This suggests that the material in the enterocytes is the B48 form of apoprotein B or a fragment thereof. Additional findings included decreased low density lipoprotein levels with an abnormal chemical composition, abnormal high density lipoprotein2 (HDL2) and HDL3 particle size distributions, and an abnormal HDL apoprotein composition. Increased amounts of proteins having electrophoretic mobilities similar to apo E and the E-AII complex were present. Finally, some cases exhibited additional protein components of apparent molecular weights between 17,000 and 28,000, which was similar to some cases of abetalipoproteinemia. These findings demonstrate that Anderson's disease is not due to the absence of synthesis of intestinal apo B and suggest that it is more complex than previously thought, affecting all the lipoprotein classes.
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keywords = enterocytes
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