An interesting case of familial chylomicronemia syndrome in a cleft palate child

Abstract

Familial chylomicronemia syndrome is a very rare condition with an incidence of one in one million. We report such a condition detected incidentally in a cleft child.

Familial Chylomicronaemia: A Neonate with Milky White Blood

“…Hepatosplenomegaly results due to accumulation of triglycerides in the reticuloendothelial system 3 .In our case only lipaemiaretinalis and hepatomegaly was present but no eruptive xanthoma and splenomegaly were present. LPL defi ciency is suspected when serum is lipaemic after 12 hours of fasting and fasting plasma is turbid and if left at 4*C for few hours, chylomicrons appear at the top forming creamy supernatant 3 . In our case also creamy white supernatant was found at the top of plasma after overnight refrigeration.…”

“…The diagnosis of Chylomicronaemia is made by accessing LPL activity in plasma after intravenous administration of heparin. Heparin binds with LPL causing its dissociation from heparin sulphate from endothelial surface with its subsequent release into plasma 3 .When LPL defi ciency is suspected, genetic analysis is needed to confi rm the diagnosis. The full gene sequencing of LPL and four other proteins is gold standard to precisely determine which mutated protein forms basis for this metabolic disorder 4 .…”

Severe hypertriglyceridemia is related to episodes of epididymitis

“…The abdominal pain seen in chylomicronemia is of uncertain etiology, but could be explained by a great production of substances toxic to the pancreatic cells, such as the lysolecithin, fatty acids, and release of pancreatic enzymes that could lead to necrosis, bleeding, and to abdominal pain. [9][10][11] Another possibility is the aggregation of chylomicra leading to microvessel ischemia. It is not certain that the epidydimitis has the same etiology.…”