neutral lipid storage disease with myopathy (neutral lipid storage disease without ichthyosis)

Pathology

• presence of triglyceride-containing cytoplasmic droplets in leukocytes & in other tissues, including bone marrow, skin, & muscle
• defect in triglyceride degradation in fibroblast
• defect in triglyceride storage in liver, muscles, & other visceral cells

Genetics

• associated with defects in PNPLA2 gene

Clinical manifestations

• not associated with obesity, in spite of a defect in triglyceride metabolism

More general terms

• lipid metabolism, inborn error; lipid storage disease; lipidosis