Type I hyperlipoproteinemia presenting as sudden death in infancy.
A routine post-mortem investigating sudden death in an eight week old male infant revealed gross Type I hyperlipoproteinemia (triglyceride concentration 825 mmol/L). Death was attributed to generalized cerebral anoxia. Study of the family revealed the parents were first cousins both of whom had depressed postheparin lipolytic activity, as did five out of seven of the remainder of the family members tested. This family is a notable example of deficiency of extrahepatic lipoprotein lipase.
D002545:Brain Ischemia / Q000209:etiology; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000150:complications* / Q000473:pathology; D006951:Hyperlipoproteinemias / Q000150:complications*; D007223:Infant; D008297:Male; D010375:Pedigree; D013398:Sudden Infant Death / Q000209:etiology*