neutral lipid storage disease

Dorf·man-Chan·a·rin syn·drome

(dōrf'măn chan'ă-rin), [MIM*275630]
congenital ichthyosis, leukocyte vacuoles, and variable involvement of other organ systems.
Farlex Partner Medical Dictionary © Farlex 2012

neutral lipid storage disease

An AR condition characterized by congenital ichthyosis, hepatosplenomegaly, myopathy, and diffuse accumulation of TGs, vacuolated granulocytes
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

Dorfman,

Maurice L., 20th century Israeli dermatologist.
Dorfman-Chanarin syndrome - congenital ichthyosis, leukocyte vacuoles, and variable involvement of other organ systems. Synonym(s): neutral lipid storage disease
Medical Eponyms © Farlex 2012
References in periodicals archive ?
_: 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.1 It is caused by mutations in Adipose Triglyceride Lipase (ATGL) / PNPLA2 or Comparative Gene Identification (CG1-58) /ABHD5.2
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.
Neutral lipid storage disease: a genetic disorder with abnormalities in the regulation of phospholipid metabolism.
Dorfman-Chanarin Syndrome (neutral lipid storage disease): new clinical features.
A cause of fatty liver: neutral lipid storage disease with ichthyosis: electron microscopic findings.