Zellweger syndrome
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At the time the article was created Yuranga Weerakkody had no recorded disclosures.
View Yuranga Weerakkody's current disclosuresAt the time the article was last revised Arlene Campos had no financial relationships to ineligible companies to disclose.
View Arlene Campos's current disclosures- Zellweger syndrome
- Zellweger's syndrome
- Zellweger syndrome (ZS)
- Cerebrohepatorenal syndrome
- Cerebro-hepato-renal syndrome
Zellweger syndrome, also known as cerebrohepatorenal syndrome, is a multisystem metabolic abnormality primarily affecting the central nervous system, liver, and kidneys.
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Epidemiology
The condition typically presents in neonates with poor feeding and/or seizures ref.
Pathology
It results from an abnormality in peroxisomal metabolism. It is the most severe of the peroxisomal disorders 6.
Radiographic features
CNS
-
abnormal gyration patterns 3
pachygyria: especially medial gyri around peri-Rolandic regions
polymicrogyria: laterally
cerebral periventricular pseudocysts 3
Musculoskeletal
scimitar-like patellar calcification 2
Abdominal
echogenic kidneys (on ultrasound) ref
hepatomegaly may be present ref
Treatment and prognosis
There is no curative treatment and the condition carries a poor prognosis with death occurring within the first year of life ref.
History and etymology
This condition is named after Hans Zellweger (1909-1990) a Swiss-American pediatrician 7,10.
References
- 1. Barkovich A & Peck W. MR of Zellweger Syndrome. AJNR Am J Neuroradiol. 1997;18(6):1163-70. PMC8337298 - Pubmed
- 2. Bartoletti S, Armfield S, Ledesma-Medina J. The Cerebro-Hepato-Renal (Zellweger's) Syndrome: Report of Four Cases. Radiology. 1978;127(3):741-5. doi:10.1148/127.3.741 - Pubmed
- 3. Mochel F, Grébille AG, Benachi A et-al. Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome. AJNR Am J Neuroradiol. 2006;27 (2): 333-6. AJNR Am J Neuroradiol (full text) - Pubmed citation
- 4. Thomas B, Al dossary N, Widjaja E. MRI of childhood epilepsy due to inborn errors of metabolism. AJR Am J Roentgenol. 2010;194 (5): W367-74. doi:10.2214/AJR.09.2948 - Pubmed citation
- 5. Leijser LM, De vries LS, Rutherford MA et-al. Cranial ultrasound in metabolic disorders presenting in the neonatal period: characteristic features and comparison with MR imaging. AJNR Am J Neuroradiol. 2007;28 (7): 1223-31. doi:10.3174/ajnr.A0553 - Pubmed citation
- 6. ter Rahe B, Majoie C, Akkerman E, den Heeten G, Poll-The B, Barth P. Peroxisomal Biogenesis Disorder: Comparison of Conventional MR Imaging with Diffusion-Weighted and Diffusion-Tensor Imaging Findings. AJNR Am J Neuroradiol. 2004;25(6):1022-7. PMC7975665 - Pubmed
- 7. Zellweger H. The cerebro-hepato-renal (Zellweger) syndrome and other peroxisomal disorders. Dev Med Child Neurol. 1987;29 (6): 821-9. - Pubmed citation
- 8. Mary A. Rutherford. MRI of the Neonatal Brain. (2002) ISBN: 0702025348 - Google Books
- 9. Steinberg SJ, Raymond GV, Braverman NE, et al. Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum. 2003 Dec 12 [Updated 2012 May 10]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1448/
- 10. Ionasescu V. Hans Zellweger (1909‐1990). Neurology. 1990;40(7):1142. doi:10.1212/wnl.40.7.1142
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- Cerebellar hypoplasia
- Hepatomegaly
- Dysgenesis of the corpus callosum
- Peroxisome biogenesis disorder
- Glutaric aciduria type 1
- Leukodystrophies
- Subependymal cyst
- Fetal hepatomegaly
- Fetal hepatosplenomegaly
- Fetal intracranial cystic lesions
- Multicystic dysplastic kidney
- Paediatric cystic renal diseases
- Glomerulocystic kidney disease
- Chudley-McCullough syndrome
- Nuchal fold
- Polymicrogyria
- Central nervous system curriculum
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