Wolman disease

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 31220
ICD10 = ICD10|E|75|5|e|70
ICD9 = ICD9|272.7
ICDO =
OMIM = 278000
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID = D015223

Wolman disease (also known as Wolman's disease, Wolman's syndrome, and acid lipase deficiency) [OMIM|278000] is a rare autosomal recessive [cite journal |pmid=8617513 |year=1996 |month=Apr |author=Aslanidis, C; Ries, S; Fehringer, P; Büchler, C; Klima, H; Schmitz, G |title=Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity |volume=33 |issue=1 |pages=85–93 |doi=10.1006/geno.1996.0162 |journal=Genomics] lipid storage disease that is usually fatal at a very young age. [Chorus|00425]

Inheritance and Diagnosis

Wolman disease 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.

ymptoms

Infants may be normal and active at birth but quickly develop progressive mental deterioration, hepatosplenomegaly (enlarged liver and grossly enlarged spleen), intrabdominal adenopathy, distended abdomen, gastrointestinal problems including steatorrhea (excessive amounts of fats in the stools), jaundice, anemia, vomiting and calcium deposits in the adrenal glands. The overall clinical picture is an infant who appears ill and fails to thrive.

The key imaging findings are enlarged adrenal glands, with punctate calcifications, and a preserved shape. The calcification may be limited to the cortex of the gland. This may be a pathognomonic sign. The liver and spleen are enlarged, especially the liver. The liver demonstrates low density on CT, due to fatty infiltration. There may be enlarged, low-density mesenteric and retroperitoneal lymph nodes.

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. [http://www.nature.com/bmt/journal/v26/n5/full/1702557a.html]

Patients with anemia may require blood transfusions. In some patients, the enlarged spleen must be removed to improve cardiopulmonary function. Dietary restrictions do not prevent lipid buildup in cells and tissues. There is no treatment for the disease, and almost all infants die before the age of one.

Eponym

Wolman disease is named after Moshe Wolman. [WhoNamedIt|synd|3122]

References