lipid storage disease


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lipid storage disease

[′lip·əd ‚stȯr·ij di‚zēz]
(medicine)
Any of various rare diseases characterized by the accumulation of large histiocytes containing lipids throughout reticuloendothelial tissues; examples are Goucher's disease, Niemann-Pick disease, and amaurotic familial idiocy.
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.
References in periodicals archive ?
Hepatic biopsy presented hepatocyte dilatation due to lipid accumulation, lipid-filled histiocytes, and broadening portal spaces suggesting lipid storage disease (Figure 1).
Rare causes of short stature seen in one patient each (1%) included Turner Syndrome, premature ovarian failure, achondroplasia, primary adrenal insufficiency, central adrenal insufficiency, central hypothyroidism and lipid storage disease. Weight below 3rd centile was cross tabulated against Growth hormone deficiency, Primary Hypothyroidism, Pan-hypopituitarism and Vitamin D deficiency and no significant association was found.
INTRODUCTION: Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease first described in 1937 by van Bogaert et al (1) In 1974, Setoguchi et al.
_: 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.
Although atherosclerosis was at one time considered to be a lipid storage disease, subsequent research has shown that inflammatory cells, innate immunity, and inflammation play central roles in all stages of atherosclerotic disease from the early initial lesion to the late-stage plaque rupture (5).
In conclusion, although CDS is a rare lipid storage disease, it should always be a consideration in patients with congenital ichthyosis, especially those with extracutaneous symptoms or signs.
There were also two poster presentations: (1) "Artifacts and Organism Mimickers in Pathology" by Shelvin Minas Fowler and Victor Nanales (2) "Lipid Storage Disease of the Liver" by Brigitte Visagie who gave a talk on the same subject as well.
Niemann-Pick disease (NPD) is a very rare lipid storage disease. A three-month-old girl presented with high fever (39[degrees]C), abdominal distension and paleness.
The E3/E3[DELTA]149Leu mutation negatively affects apoE function, and carriers develop signs and symptoms of a lipid storage disease. The preferential association of the E3[DELTA]149Leu mutation with splenic foamcell formation remains to be explained.
[4] These bone changes may be misdiagnosed as Paget's disease, lymphoma, sarcoidosis, metastases, or lipid storage diseases. [6,7]
It is not surprising then that CGI-58 mutations produce lipid storage diseases, such as the Chanarin-Dorfman syndrome, which is characterized by neutral lipid accumulation in skeletal muscle and ichthyosis [62].