title: Encephalopathy in type I hyperlipidemia.
abstract: Familial chylomicronemia syndrome is a group of rare genetic disorders characterized by deficient activity of an enzyme lipoprotein lipase or apo-protein C-II deficiency. In this paper we present an infant with massive hyperchylomicronemia and severe pancreatitis. Exchange transfusion for controlling hypertriglyceridemia and pancreatitis led to an increase in hyperviscosity which resulted in encephalopathy.
authors.affiliation: Ministry of Health Bakirkoy Maternity and Children Education Hospital, Pediatric Metabolism and Endocrinology Unit, Istanbul, Turkey. hasanonal@hotmail.com
authors.forename: Hasan
authors.initials: H
authors.lastname: Onal
authors.forename: Cigdem
authors.initials: C
authors.lastname: Atugluzeybek
authors.forename: Safa
authors.initials: S
authors.lastname: Alhaj
authors.forename: Gurkan
authors.initials: G
authors.lastname: Altun
mesh_terms: D053304:Apolipoprotein C-II / Q000172:deficiency*; D001809:Blood Viscosity; D001928:Brain Diseases, Metabolic / Q000175:diagnosis* / Q000209:etiology; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000150:complications* / Q000175:diagnosis* / Q000209:etiology; D015228:Hypertriglyceridemia / Q000150:complications*; D007223:Infant; D008071:Lipoprotein Lipase / Q000172:deficiency; D008074:Lipoproteins; D008297:Male; D010195:Pancreatitis / Q000175:diagnosis* / Q000209:etiology; D010951:Plasma Exchange
chemical_list: D053304:Apolipoprotein C-II; D008074:Lipoproteins; D008071:Lipoprotein Lipase