Zellweger Syndrome - Cerebrohepatorenal Syndrome
Newborn with dysmorphic features, hypotonia, and seizures.
1469 Zellweger syndrome Cerebrohepatorenal Peroxisome biogenesis disorder Leukodystrophy
Publication Date: 2008-11-13
Perosixome Biogenesis Disorders: Infantile Refsum disease, Neonatal adrenal leukodystrophy, hyperpipecolic academia, Zellweger disease
Zellweger syndrome, also known as cerebrohepatorenal syndrome, is a autosomal recessive peroxisome biogenesis disorder (PBD). The PBD's fall under the leukodystrophy category. Zellweger is an autosomal recessive disorder and the most severe form of PBD.
The diagnosis of zellweger is a combination of clinical presentation, laboratory, and medical imaging.
Very long chain fatty acids (VLCFA) are abnormally high in all patients. High iron and copper can be seen in the blood and tissues. Additional labs include erythrocyte plasmalogen, pristanic acid, and phytanic acid.
Imaging modalities include MR, US, and plain radiographs. MR can demonstrate neocortical dysplasia, germinolytic cysts, delayed myelination, and colpocephaly. US will demonstrate cortical cysts and hepatomegaly with or without periportal fibrosis. Radiographs can be used to evaluate respiratory failure and can demonstrate periarticular calcifications which are most pronounced around the patella.
There is no cure or standard course of treatment. Zellweger demonstrates a poor prognosis and death usually occurs by 6 months of age which may be a result of respiratory distress, gastrointestinal bleeding, or liver failure.
- Chedrawi A, Clark GD. Peroxisomal Disorders. eMedicine. 3 Mar 2007. http://www.emedicine.com/neuro/TOPIC309.HTM
- Poznanski AK, Nosanchuk JS, Baublis J, Holt JF. The cerebro-hepato-renal syndrome (CHRS) (Zellweger Syndrome). AJR. 1970;109:313-322.
- Mochel F, Grebille AG, et al. Contribution of Fetal MR imaging in the prenatal Diagnosis of Zellweger Syndrome. Am J Neuroradiol. 2007;27:333-336.