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.1 It is caused by mutations in Adipose Triglyceride Lipase (ATGL) / PNPLA2 or Comparative Gene Identification (CG1-58) /ABHD5.2
CG1-58 mutations are always associated with ichthyosis.3 Neutral lipid storage disease was first described by Rosenszajn et al.4 in 1966 in two siblings who developed ichthyosiform erythroderma as the only abnormality.
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.5 The majority of cases reported to date are from the Middle East.6
In our case patient showed steatohepatitis and grade III renal parenchymal disease which is a rare finding in patients of neutral lipid storage disease.
CDS is a rare autosomal recessive inherited lipid storage disease associated with congenital ichthyotic erythroderma, and is characterized by neutral lipid accumulation in different organs, such as skin, muscle, the liver, central nervous system, and granulocytes (2), (3), (5).
In conclusion, although CDS is a rare lipid storage disease, it should be a consideration in every patient with congenital ichthyosis, especially those with extracutaneous signs, as a simple peripheral smear can establish the diagnosis.
A cause of fatty liver: neutral lipid storage disease with ichthyosis: electron microscopic findings.
Although an association between amino acid metabolism disorders such as lysinuric protein intolerance and HLH was reported, there is no documented case in the literature about HLH secondary to a lipid storage disease (9), (10).
Niemann-Pick disease (NPD) refers to a group of inherited metabolic disorders known as the leukodystrophies or lipid storage diseases, in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and the brain.
The exogenous type is more common and associated with aspiration or inhalation of fatty substances, whereas the endogenous type usually occurs as secondary bronchial obstruction caused by tumors, bacterial infections, bronchiolitis obliterans, and lipid storage diseases
Lipid storage diseases
were diagnosed by the specific histiocytes in the biopsy specimen.