Niemann-Pick disease type C (NPC) is an autosomal, recessive lipid storage disease that can present in infants, children, and adults. Harmful quantities of lipids accumulate in the spleen, liver, lungs, bone marrow, and, in some patients, the brain. Infiltration of the lipid component can cause organs, vessels, and surrounding tissues to lose their function with advancement of the disease. The elevated levels of lipids lead to irreversible damage of the organs and organ failure, resulting in death. Sonographic evaluation of patients with NPC provides valuable information on the progression of this disease.
- Disease progression
- Genetic counseling
- Niemann-Pick disease type C
ASJC Scopus subject areas
- Radiological and Ultrasound Technology
- Radiology Nuclear Medicine and imaging