Wolman disease
You don't need to be Editor-In-Chief to add or edit content to WikiDoc. You can begin to add to or edit text on this WikiDoc page by clicking on the edit button at the top of this page. Next enter or edit the information that you would like to appear here. Once you are done editing, scroll down and click the Save page button at the bottom of the page.
| Wolman disease Classification and external resources | |
| 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 | |
|
Media | |
|
Powerpoint slides on Wolman disease | |
|
Evidence Based Medicine | |
|
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
| |
|
Books | |
|
News | |
|
Commentary | |
|
Definitions | |
|
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 | |
|
Causes & Risk Factors for Wolman disease | |
|
Continuing Medical Education (CME) | |
|
International | |
|
| |
|
Businness | |
|
Experimental / Informatics | |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Phone:617-525-6884
Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2] Phone:617-525-7431
Please Take Over This Page and Apply to be 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 and copylefted
|
|
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
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
