title: A case of abetalipoproteinaemia in a Polish family.
abstract: 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.
authors.affiliation: Institute of Paediatrics, Medical Academy Krakow, Poland.
authors.forename: M
authors.initials: M
authors.lastname: Kaciński
authors.forename: F
authors.initials: F
authors.lastname: Kaczmarski
authors.forename: W
authors.initials: W
authors.lastname: Miezyński
authors.forename: Z
authors.initials: Z
authors.lastname: Grzenda-Adamek
authors.forename: B
authors.initials: B
authors.lastname: Miszczuk-Jamska
authors.forename: J
authors.initials: J
authors.lastname: Stopyrowa
authors.forename: J
authors.initials: J
authors.lastname: Sznajd
mesh_terms: D000012:Abetalipoproteinemia / Q000097:blood / Q000150:complications / Q000235:genetics*; D000050:Acanthocytes / Q000473:pathology; D000293:Adolescent; D001059:Apoproteins / Q000145:classification; D002648:Child; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D008055:Lipids / Q000097:blood; D008286:Malabsorption Syndromes / Q000150:complications / Q000235:genetics; D008297:Male
chemical_list: D001059:Apoproteins; D008055:Lipids