Lipoprotein lipase deficiency.
A rare case of a 3 month old child with lipoprotein lipase deficiency who presented with bronchopneumonia is reported. After noticing lipaemic serum and lipaemia retinalis, a diagnosis of hyperlipoproteinaemia was considered. Lipoprotein lipase deficiency was confirmed with post heparin lipoprotein lipase enzyme activity estimation.
Shankar
K N
KN
Department of Paediatrics, Seth G.S. Medical College, Parel, Mumbai.
Bava
H S
HS
Shetty
J
J
Joshi
M K
MK
D003241:Consanguinity; D006801:Humans; D007223:Infant; D008055:Lipids / Q000097:blood; D008071:Lipoprotein Lipase / Q000172:deficiency*; D008297:Male
D008055:Lipids; D008071:Lipoprotein Lipase