The four main genetic causes of LSM are multiple acyl-coenzyme A dehydrogenase deficiency (MADD, OMIM 231680), primary carnitine deficiency (OMIM 212140), neutral lipid storage disease
with myopathy (OMIM 610717), and neutral lipid storage disease
with ichthyosis (OMIM 25630).
Abstract Neutral lipid storage disease is a rare autosomal recessive disorder characterized by non-bullous ichthyosiform erythroderma liver steatosis hepatosplenomegaly cataracts ataxia bilateral sensorineural hearing loss skeletal and cardiomyopathy growth and mental retardation.
Neutral lipid storage disease non-bullous ichthyosiform erythroderma Jordan's anomaly.
Neutral lipid storage disease (NLSD) is an autosomal recessive disorder in which there are lipid droplets in almost all tissues.
3 Neutral lipid storage disease was first described by Rosenszajn et al.
Neutral lipid storage disease (Chanarin-Dorfman syndrome) is a rare autosomal recessive lipid storage disease which is characterized by the deposition of triacylglycerol in multiple tissues including liver skin muscle central nervous system and blood leukocytes.
In our case patient showed steatohepatitis and grade III renal parenchymal disease which is a rare finding in patients of neutral lipid storage disease.