Jordans' anomaly

Individuals with this condition exhibit persistent vacuolation of granulocytes and monocytes in the peripheral blood and bone marrow.

[1][2][3] Jordans' anomaly is a characteristic finding in Chanarin-Dorfman syndrome and other neutral lipid storage diseases.

These mutations lead to defective triglyceride breakdown and accumulation of lipid droplets in cells throughout the body.

[2][4] The anomaly was first described in 1953, by Dr. G. H. Jordans, who identified abnormal vacuolation in the white blood cells of two brothers with congenital muscular dystrophy.

[8][4] Jordans' anomaly was linked to genetic mutations affecting triglyceride metabolism in 2006.