Wolman disease
Updates to Article Attributes
Wolman disease is a rare autosomal recessive inborn error of metabolism resulting in the deposition of fats in multiple organs.
Clinical presentation
Patients with Wolman disease typically present during the first two months of life with failure to thrive, diarrhoea and vomiting. Abdominal distention may be present because of hepatomegaly, splenomegaly and generalised lymphadenopathy 3.
Pathology
The underlying biochemical abnormality is deficiency of acid lipase/acid esterase. These enzymes are responsible for splitting triglycerides and cholesterol esters 4. The deficiency results in accumulation of lipid esters in multiple tissues including the liver, spleen, lymph nodes, and small bowel.
Marked accumulation of cholesterol and fatty acid crystals also occurs within the cells of the adrenal cortex, resulting in enlargement of the adrenal glands. Saponification (accumulation of glyceryl ether lipids) of this tissue with subsequent calcification results in the characteristic radiological features.
Radiographic features
Conventional radiographyPlain radiograph
- bilateral calcification of the adrenal glands, which are enlarged 3,5
CT
- may show hepatosplenomegaly (with fatty infiltration of liver)
- bilaterally enlarged calcified (punctate calcification) adrenal gland that retain their normal triangular shapes
- may show enlarged fatty infiltrated lymph nodes
MRI
- hepatosplenomegaly
- bilateral adrenal enlargement
- bilateral adrenal calcifications
- T1: low signal foci
- T2: low signal foci
Treatment and prognosis
Treatment approaches have included total parenteral nutrition (TPN), corticosteroids, plasma infusion, and various dietary supplements, all without success, with death in infancy ensuing (usually within 6 months). Bone marrow transplantation has been reported with some success2
History and etymology
It takes its name from one of the neuropathologists who first described the entity in 1956:
- Moshe Wolman (1914-)
- Abramov
- Schorr
Differential diagnosis
For adrenal calcification see: differential diagnosis for adrenal gland calcification.
-<p><strong>Wolman disease</strong> is a rare autosomal recessive inborn error of metabolism resulting in the deposition of fats in multiple organs. </p><h4>Clinical presentation</h4><p>Patients with Wolman disease typically present during the first two months of life with <a href="/articles/failure-to-thrive">failure to thrive</a>, diarrhoea and vomiting. Abdominal distention may be present because of <a href="/articles/hepatomegaly">hepatomegaly</a>, <a href="/articles/splenomegaly">splenomegaly</a> and generalised <a href="/articles/lymph-node-enlargement">lymphadenopathy</a> <sup>3</sup>.</p><h4>Pathology</h4><p>The underlying biochemical abnormality is deficiency of acid lipase/acid esterase. These enzymes are responsible for splitting triglycerides and cholesterol esters <sup>4</sup>. The deficiency results in accumulation of lipid esters in multiple tissues including the <a href="/articles/liver">liver</a>, <a href="/articles/spleen-1">spleen</a>, lymph nodes, and <a href="/articles/small-bowel">small bowel</a>.</p><p>Marked accumulation of cholesterol and fatty acid crystals also occurs within the cells of the adrenal cortex, resulting in enlargement of the adrenal glands. Saponification (accumulation of glyceryl ether lipids) of this tissue with subsequent calcification results in the characteristic radiological features. </p><h4>Radiographic features</h4><h5>Conventional radiography</h5><ul><li>bilateral calcification of the <a href="/articles/adrenal-gland">adrenal glands</a>, which are enlarged <sup>3,5</sup> </li></ul><h5>CT</h5><ul>- +<p><strong>Wolman disease</strong> is a rare autosomal recessive inborn error of metabolism resulting in the deposition of fats in multiple organs. </p><h4>Clinical presentation</h4><p>Patients with Wolman disease typically present during the first two months of life with <a href="/articles/failure-to-thrive">failure to thrive</a>, diarrhoea and vomiting. Abdominal distention may be present because of <a href="/articles/hepatomegaly">hepatomegaly</a>, <a href="/articles/splenomegaly">splenomegaly</a> and generalised <a href="/articles/lymph-node-enlargement">lymphadenopathy</a> <sup>3</sup>.</p><h4>Pathology</h4><p>The underlying biochemical abnormality is deficiency of acid lipase/acid esterase. These enzymes are responsible for splitting triglycerides and cholesterol esters <sup>4</sup>. The deficiency results in accumulation of lipid esters in multiple tissues including the <a href="/articles/liver">liver</a>, <a href="/articles/spleen-1">spleen</a>, lymph nodes, and <a href="/articles/small-bowel">small bowel</a>.</p><p>Marked accumulation of cholesterol and fatty acid crystals also occurs within the cells of the adrenal cortex, resulting in enlargement of the adrenal glands. Saponification (accumulation of glyceryl ether lipids) of this tissue with subsequent calcification results in the characteristic radiological features. </p><h4>Radiographic features</h4><h5>Plain radiograph</h5><ul><li>bilateral calcification of the <a href="/articles/adrenal-gland">adrenal glands</a>, which are enlarged <sup>3,5</sup> </li></ul><h5>CT</h5><ul>
-</ul><h4>Treatment and prognosis</h4><p>Treatment approaches have included total parenteral nutrition (TPN), corticosteroids, plasma infusion, and various dietary supplements, all without success, with death in infancy ensuing (usually within 6 months). Bone marrow transplantation has been reported with some success <sup>2</sup>.</p><h4>History and etymology</h4><p>It takes its name from one of the neuropathologists who first described the entity in 1956:</p><ul>- +</ul><h4>Treatment and prognosis</h4><p>Treatment approaches have included total parenteral nutrition (TPN), corticosteroids, plasma infusion, and various dietary supplements, all without success, with death in infancy ensuing (usually within 6 months). Bone marrow transplantation has been reported with some success.</p><h4>History and etymology</h4><p>It takes its name from one of the neuropathologists who first described the entity in 1956:</p><ul>
References changed:
- 1. Marosvári I. Wolman disease in twins. Acta Paediatr Hung. 1985;26 (1): 61-4. <a href="http://www.ncbi.nlm.nih.gov/pubmed/3986053">Pubmed citation</a><span class="auto"></span>
- 6. Marosvári I. Wolman disease in twins. Acta Paediatr Hung. 1985;26 (1): 61-4. <a href="http://www.ncbi.nlm.nih.gov/pubmed/3986053">Pubmed citation</a><span class="auto"></span>
- 2. Krivit et.al, “Wolman disease successfully treated by bone marrow transplantation,” September 1, 2000. <a href="http://www.nature.com/bmt/journal/v26/n5/full/1702557a.html" target="_blank">[Link]</a>.
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