Encephalopathy in type I hyperlipidemia.
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.
Onal
Hasan
H
Ministry of Health Bakirkoy Maternity and Children Education Hospital, Pediatric Metabolism and Endocrinology Unit, Istanbul, Turkey. hasanonal@hotmail.com
Atugluzeybek
Cigdem
C
Alhaj
Safa
S
Altun
Gurkan
G
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
D053304:Apolipoprotein C-II; D008074:Lipoproteins; D008071:Lipoprotein Lipase