These bone changes may be misdiagnosed as Paget's disease, lymphoma, sarcoidosis, metastases, or lipid storage diseases
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 .
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.
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.
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.