Zellweger's syndrome


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Zellweger's syndrome,
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(H.U. Zellweger, born 1909, Swiss-born American paediatrician), (also called cerebrohepatorenal syndrome), one of the peroxisome disorders, a rare disease with autosomal recessive inheritance. Clinical onset in childhood with muscular hypotonia, decreased reflexes, psychomotor retardation, fits, hepatomegaly and mild craniofacial dysmorphism. The condition is due to absence of peroxisomes in hepatocytes, and proximal renal tubular cells. The radiological manifestation is that of calcification in the periarticular regions of the joints and in cartilage, and cortical renal cysts seen on ultrasound. In addition, there is microgyria and pachygyria demonstrable on MRI. The marked degree of calcification in the patella helps to distinguish this from chondrodysplasia punctata.


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The Encyclopaedia of Medical Imaging Volume VII