Sonographic evaluation of Niemann-Pick disease type C

Ann Twarling, Kim Michael, Jody Berg

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)198-201
Number of pages4
JournalJournal of Diagnostic Medical Sonography
Volume20
Issue number3
DOIs
StatePublished - May 2004

Keywords

  • Disease progression
  • Genetic counseling
  • Niemann-Pick disease type C
  • Sonography

ASJC Scopus subject areas

  • Radiological and Ultrasound Technology
  • Radiology Nuclear Medicine and imaging

Fingerprint Dive into the research topics of 'Sonographic evaluation of Niemann-Pick disease type C'. Together they form a unique fingerprint.

Cite this