This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Twarling, A. Articles by Berg, J. Search for Related Content Social Bookmarking                         What's this?

Sonographic Evaluation of Niemann-Pick Disease Type C

University of Nebraska Medical Center, Omaha, Nebraska, anntwarling{at}hotmail.com

Kim Michael, BSRT(R), RDMS, RVT

University of Nebraska Medical Center, Omaha, Nebraska

Jody Berg, MS, RT(R), RDMS

University of Nebraska Medical Center, Omaha, Nebraska

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.

Key Words: Niemann-Pick disease type C • sonography • disease progression • genetic counseling

Journal of Diagnostic Medical Sonography, Vol. 20, No. 3, 198-201 (2004)
DOI: 10.1177/8756479304265036


CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter    What's this?