Wolman disease

Revision as of 12:36, 21 May 2009 by Swilliams (talk | contribs)
(diff) ← Older revision | Latest revision (diff) | Newer revision → (diff)
Jump to navigation Jump to search
Wolman disease
Wolman's_disease
(Image courtesy of RadsWiki)
ICD-10 E75.5
ICD-9 272.7
OMIM 278000
DiseasesDB 31220
MeSH D015223

WikiDoc Resources for Wolman disease

Articles

Most recent articles on Wolman disease

Most cited articles on Wolman disease

Review articles on Wolman disease

Articles on Wolman disease in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Wolman disease

Images of Wolman disease

Photos of Wolman disease

Podcasts & MP3s on Wolman disease

Videos on Wolman disease

Evidence Based Medicine

Cochrane Collaboration on Wolman disease

Bandolier on Wolman disease

TRIP on Wolman disease

Clinical Trials

Ongoing Trials on Wolman disease at Clinical Trials.gov

Trial results on Wolman disease

Clinical Trials on Wolman disease at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Wolman disease

NICE Guidance on Wolman disease

NHS PRODIGY Guidance

FDA on Wolman disease

CDC on Wolman disease

Books

Books on Wolman disease

News

Wolman disease in the news

Be alerted to news on Wolman disease

News trends on Wolman disease

Commentary

Blogs on Wolman disease

Definitions

Definitions of Wolman disease

Patient Resources / Community

Patient resources on Wolman disease

Discussion groups on Wolman disease

Patient Handouts on Wolman disease

Directions to Hospitals Treating Wolman disease

Risk calculators and risk factors for Wolman disease

Healthcare Provider Resources

Symptoms of Wolman disease

Causes & Risk Factors for Wolman disease

Diagnostic studies for Wolman disease

Treatment of Wolman disease

Continuing Medical Education (CME)

CME Programs on Wolman disease

International

Wolman disease en Espanol

Wolman disease en Francais

Business

Wolman disease in the Marketplace

Patents on Wolman disease

Experimental / Informatics

List of terms related to Wolman disease

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]

Please Join in Editing This Page and Apply to be an Editor-In-Chief for this topic: There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [3] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch.

Overview

Wolman disease (also known as Wolman’s disease, Wolman’s syndrome, and acid lipase deficiency) is a rare severe lipid storage disease that is usually fatal at a very young age.[1]

Both males and females are affected by this severe disorder.

Causes

This autosomal recessive disorder is marked by accumulation of cholesteryl esters (normally a transport form of cholesterol) and triglycerides (a chemical form in which fats exist in the body) that can build up significantly and cause damage in the cells and tissues.

Presentation

Infants are normal and active at birth but quickly develop progressive mental deterioration, hepatosplenomegaly (enlarged liver and grossly enlarged spleen), distended abdomen, gastrointestinal problems including steatorrhea (excessive amounts of fats in the stools), jaundice, anemia, vomiting and calcium deposits in the adrenal glands, causing them to harden.

Diagnosis

Physical Examination

  • Hepatomegaly
  • Splenomegaly

Abdominal x-ray

  • The vast majority of radiologic findings reported in the literature are limited to the characteristically enlarged, calcified adrenal glands noted on conventional radiographs.
  • Although there are multiple causes of adrenal gland calcifications, only Wolman disease results in enlarged, calcified adrenal glands that maintain their normal triangular configuration.

Images shown below are courtesy of RadsWiki

Prognosis

In the past, there has been no specific treatment for Wolman disease, although a single case patient has seen a complete, sustained remission after a bone marrow transplant, and if the results can be duplicated, this approach may become standard in the future.[4]

Patients with anemia may require blood transfusions. In some patients, the enlarged spleen must be removed to improve cardiopulmonary function. Restricting one’s diet does not prevent lipid buildup in cells and tissues.

Eponym

Wolman disease is named after Moshe Wolman.[2]

References

Template:Endocrine, nutritional and metabolic pathology Template:SIB


Template:WikiDoc Sources