Sonographic evaluation of Niemann-Pick disease type C

Ann Twarling, Kimberly K Michael, Jody Berg

Research output: Contribution to journalArticle

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 1 2004

Fingerprint

Type C Niemann-Pick Disease
Lipids
Disease Progression
Spleen
Bone Marrow
Lung
Liver
Brain

Keywords

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

ASJC Scopus subject areas

  • Radiological and Ultrasound Technology
  • Radiology Nuclear Medicine and imaging

Cite this

Sonographic evaluation of Niemann-Pick disease type C. / Twarling, Ann; Michael, Kimberly K; Berg, Jody.

In: Journal of Diagnostic Medical Sonography, Vol. 20, No. 3, 01.05.2004, p. 198-201.

Research output: Contribution to journalArticle

@article{86923607002f4fd98b015b173693f448,
title = "Sonographic evaluation of Niemann-Pick disease type C",
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.",
keywords = "Disease progression, Genetic counseling, Niemann-Pick disease type C, Sonography",
author = "Ann Twarling and Michael, {Kimberly K} and Jody Berg",
year = "2004",
month = "5",
day = "1",
doi = "10.1177/8756479304265036",
language = "English (US)",
volume = "20",
pages = "198--201",
journal = "Journal of Diagnostic Medical Sonography",
issn = "8756-4793",
publisher = "SAGE Publications Inc.",
number = "3",

}

TY - JOUR

T1 - Sonographic evaluation of Niemann-Pick disease type C

AU - Twarling, Ann

AU - Michael, Kimberly K

AU - Berg, Jody

PY - 2004/5/1

Y1 - 2004/5/1

N2 - 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.

AB - 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.

KW - Disease progression

KW - Genetic counseling

KW - Niemann-Pick disease type C

KW - Sonography

UR - http://www.scopus.com/inward/record.url?scp=2442451348&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=2442451348&partnerID=8YFLogxK

U2 - 10.1177/8756479304265036

DO - 10.1177/8756479304265036

M3 - Article

AN - SCOPUS:2442451348

VL - 20

SP - 198

EP - 201

JO - Journal of Diagnostic Medical Sonography

JF - Journal of Diagnostic Medical Sonography

SN - 8756-4793

IS - 3

ER -