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Neutral Lipid Storage Disease
Neutral lipid storage disease (also known as Chanarin–Dorfman syndrome) is a congenital autosomal recessive disorder characterized by accumulation of triglycerides in the cytoplasm of leukocytes[1], Jordans anomaly, (Jordan’s Anomaly) muscle, liver, fibroblasts, and other tissues. It commonly occurs as one of two subtypes, cardiomyopathic neutral lipid storage disease (NLSD-M), or ichthyotic neutral lipid storage disease (NLSD-I) which is also known as Chanarin–Dorfman syndrome), which are characterized primarily by myopathy and ichthyosis, respectively. Normally, the ichthyosis that is present is typically non-bullous congenital ichthyosiform erythroderma which appears as white scaling. It has been associated genetically with mutations in the ''CGI58 gene,'' (for NLSD-I), or the Adipose triglyceride lipase, ''ATGL'' gene (for NLSD-M.) Cause Neutral lipid storage disease is caused by the abnormal and excessive accumulation of lipids in certain bodily tissues, including the l ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Jordans' Anomaly
Jordans' anomaly (also known as Jordan anomaly and Jordans bodies) is a familial abnormality of white blood cell morphology. Individuals with this condition exhibit persistent vacuolation of granulocytes and monocytes in the peripheral blood and bone marrow. Jordans' anomaly is associated with neutral lipid storage diseases. Genetics Jordans' anomaly is a characteristic finding in Chanarin-Dorfman syndrome and other neutral lipid storage diseases. The anomaly is associated with mutations in the ''PNPLA2'' gene, which produces the enzyme adipose triglyceride lipase (ATGL), and the ''ABHD5'' gene, which encodes a cofactor of ATGL. These mutations lead to defective triglyceride breakdown and accumulation of lipid droplets in cells throughout the body. Histopathology The vacuoles of Jordans' anomaly contain neutral lipids that stain positive with Sudan staining techniques. History The anomaly was first described in 1953, by Dr. G. H. Jordans, who identified abnormal vacuolation in th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |