doi: 10.1016/j.ijpam.2019.11.002.
Epub 2019 Dec 16.
Neonate with classic Zellweger syndrome
Affiliations
- PMID: 31890844
- PMCID: PMC6926218
- DOI: 10.1016/j.ijpam.2019.11.002
Item in Clipboard
Neonate with classic Zellweger syndrome
Int J Pediatr Adolesc Med.
2019 Dec.
Erratum in
-
Erratum regarding missing Declaration of Competing Interest statements in previously published articles.Int J Pediatr Adolesc Med. 2020 Dec;7(4):213. doi: 10.1016/j.ijpam.2020.10.001. Epub 2020 Oct 15. Int J Pediatr Adolesc Med. 2020. PMID: 33083510 Free PMC article.
No abstract available
Figures
Sagittal Ultrasound of the right (A) and left kidney (B) show normal-sized kidneys with parenchymal hyperechogenicity and loss of corticomedullary differentiation. Small cysts are present in the medulla bilaterally (arrow).
Brain MRI (A) Axial T2 WI image shows bilateral perisylvian polymicrogyria (white arrow) as well as caudothalamic germinolytic cysts. (B) Axial T2WI image show bilateral frontal pachygyria, delay myelination noted.
Brian MRI Sagittal T1WI image shows hypoplastic corpus callosum.
(A,B): AP view of the knees show scimitar-like patella bilatrally.
Similar articles
-
Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy.Am J Med Genet. 1986 May;24(1):69-82. doi: 10.1002/ajmg.1320240109. Am J Med Genet. 1986. PMID: 3706414
-
Zellweger syndrome: biochemical procedures in diagnosis, prevention and treatment.J Inherit Metab Dis. 1987;10 Suppl 1:33-45. doi: 10.1007/BF01812845. J Inherit Metab Dis. 1987. PMID: 3119940 Review.
-
A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype.Hum Genet. 1999 Jul-Aug;105(1-2):38-44. doi: 10.1007/s004399900095. Hum Genet. 1999. PMID: 10480353
-
Identification of a common PEX1 mutation in Zellweger syndrome.Hum Mutat. 1999;14(1):45-53. doi: 10.1002/(SICI)1098-1004(1999)14:1<45::AID-HUMU6>3.0.CO;2-J. Hum Mutat. 1999. PMID: 10447258
-
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.Hum Mutat. 2005 Sep;26(3):167-75. doi: 10.1002/humu.20211. Hum Mutat. 2005. PMID: 16086329 Review.
Cited by
-
Zellweger syndrome; identification of mutations in PEX19 and PEX26 gene in Saudi families.Ann Med. 2025 Dec;57(1):2447400. doi: 10.1080/07853890.2024.2447400. Epub 2025 Jan 6. Ann Med. 2025. PMID: 39757991 Free PMC article.
-
Novel mutation causing Zellweger syndrome.BMJ Case Rep. 2023 Mar 17;16(3):e252014. doi: 10.1136/bcr-2022-252014. BMJ Case Rep. 2023. PMID: 36931687 Free PMC article.
References
-
- TienPoll-Thea B., Gärtnerb J. Linical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorder. Biochim Biophys Acta (BBA) - Mol Basis Dis. 2012;1822(9):1421–1429. Sept. - PubMed
-
- Smitthimedhin A., Otero H.J. Scimitar-like ossification of patellae led to diagnosis of Zellweger syndrome in newborn: a case report. Clin Imaging. 2018;29:128–130. May-June. - PubMed
