Zellweger syndrome

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Zellweger syndrome (ZS), also known as the ~~cerebro-hepato-renal~~cerebrohepatorenal syndrome, is a multisystem metabolic abnormality. As the name implies it primarily affects three organ systems:

cerebral (CNS)
hepatic
renal

Epidemiology

The condition typically presents in neonates.

Pathology

It results from an abnormality in peroxisomal metabolism. It is the most severe of the peroxisomal disorders ⁶.

Radiographic features

Brain (CNS)CNS

MRI

~~Features include:~~

ventricular enlargement
abnormal gyration patterns ³
- pachygyria: ~~especialy~~especially medial gyri around peri-rolandic regions
- polymicrogyria: laterally
cerebral periventricular pseudocysts ³

Musculoskeletal

Radiograph

scimitar ~~like~~-like patella calcification ²

RenalAbdominal

Antenatal ultrasound

hyperechoic kidneys

Hepatic

Ultrasound

may demonstrate hepatomegaly

Treatment and prognosis

There is no curative treatment and the condition carries a poor prognosis with death occurring within the 1~~^st~~year~~~~first year of life.

History and etymology

~~It is~~This condition is named after Hans Zellweger, aSwiss ~~American~~-American pediatrician ⁷.

-<p><strong>Zellweger syndrome (ZS)</strong>, also known as the <strong>cerebro-hepato-renal syndrome</strong>, is a multisystem metabolic abnormality. As the name implies it primarily affects three organ systems:</p><ul>
+<p><strong>Zellweger syndrome (ZS)</strong>, also known as the <strong>cerebrohepatorenal syndrome</strong>, is a multisystem metabolic abnormality. As the name implies it primarily affects three organ systems:</p><ul>
-</ul><h4>Epidemiology</h4><p>The condition typically presents in neonates.</p><h4>Pathology</h4><p>It results from an abnormality in peroxisomal metabolism. It is the most severe of the <a href="/articles/peroxisomal-disorders">peroxisomal disorders</a> <sup>6</sup>.</p><h4>Radiographic features</h4><h5>Brain (CNS)</h5><h6>MRI</h6><p>Features include:</p><ul>
+</ul><h4>Epidemiology</h4><p>The condition typically presents in neonates.</p><h4>Pathology</h4><p>It results from an abnormality in peroxisomal metabolism. It is the most severe of the <a href="/articles/peroxisomal-disorders">peroxisomal disorders</a> <sup>6</sup>.</p><h4>Radiographic features</h4><h5>CNS</h5><h6>MRI</h6><ul>
~~-<a href="/articles/pachygyria">pachygyria: </a>especialy medial gyri around peri-rolandic regions</li>~~
+<a title="Pachygyria" href="/articles/lissencephaly-pachygyria-spectrum-2">pachygyria</a>: especially medial gyri around peri-rolandic regions</li>
~~-<li>cerebral <a title="Pseudocysts of the germinal matrix" href="/articles/pseudocysts-of-the-germinal-matrix">periventricular pseudocysts </a><sup>3</sup>~~
+<li>cerebral <a href="/articles/pseudocysts-of-the-germinal-matrix">periventricular pseudocysts </a><sup>3</sup>
~~-</ul><h5>Musculoskeletal</h5><h6>Radiograph</h6><ul><li>scimitar like patella calcification <sup>2</sup>~~
-</li></ul><h5>Renal</h5><h6>Antenatal ultrasound</h6><ul><li>hyperechoic kidneys</li></ul><h5>Hepatic</h5><h6>Ultrasound</h6><ul><li>may demonstrate hepatomegaly</li></ul><h4>Treatment and prognosis</h4><p>There is no curative treatment and the condition carries a poor prognosis with death occurring within the 1<sup>st </sup>year of life.</p><h4>History and etymology</h4><p>It is named after <strong>Hans Zellweger</strong>, a<strong> </strong>Swiss American pediatrician <sup>7</sup>.</p>
+</ul><h5>Musculoskeletal</h5><h6>Radiograph</h6><ul><li>scimitar-like patella calcification <sup>2</sup>
+</li></ul><h5>Abdominal</h5><h6>Antenatal ultrasound</h6><ul>
+<li>hyperechoic kidneys</li>
+<li>may demonstrate <a href="/articles/hepatomegaly">hepatomegaly</a>
+</li>
+</ul><h4>Treatment and prognosis</h4><p>There is no curative treatment and the condition carries a poor prognosis with death occurring within the first year of life.</p><h4>History and etymology</h4><p>This condition is named after <strong>Hans Zellweger</strong>, a<strong> </strong>Swiss-American pediatrician <sup>7</sup>.</p>