首页|Incidental diagnosis of LPL deficiency in an infant presenting with an acute respiratory infection
Incidental diagnosis of LPL deficiency in an infant presenting with an acute respiratory infection
扫码查看
点击上方二维码区域，可以放大扫码查看
原文链接
NSTL
Elsevier
Lipoprotein lipase (LPL) deficiency is an extremely rare disorder of lipid metabolism known to cause hyper-triglyceridaemia in childhood. We report the incidental diagnosis of LPL deficiency in an infant presenting with an acute respiratory tract infection. The patient was initially treated for a lower respiratory tract infection, but was subsequently found to have milky appearance of the serum, with a triglyceride concentration greater than 1000 mg/dL. Clinical examination revealed hepatosplenomegaly. Genetic analysis showed that the patient was a compound heterozygote for two rare likely pathogenic LPL variants c.808C>G p.(Arg270Gly) and c.1019-3C >G. She was commenced on a low-fat diet with the addition of medium chain triglyceride formula. At follow-up, her serum triglyceride level was normal.
NSTL
Elsevier
