MR in a patient with Zellweger syndrome presenting without cortical or myelination abnormalities.

JA Stone, M Castillo - AJNR: American Journal of Neuroradiology, 1998 - ncbi.nlm.nih.gov
We read with interest the recent paper by Barkovich and Peck describing MR features of
Zellweger syndrome (ZS)(1). All six patients in their series had impaired myelination …

MR of Zellweger syndrome.

AJ Barkovich, WW Peck - American journal of …, 1997 - Am Soc Neuroradiology
PURPOSE To determine characteristic MR imaging features of Zellweger syndrome.
METHODS Clinical records, laboratory records, and MR studies of six patients with …

[CITATION][C] Sonography of the Zellweger syndrome.

A Luisiri, C Sotelo-Avila, MJ Silberstein… - Journal of ultrasound …, 1988 - Wiley Online Library
Case 1 A 6-day-old white infant girl was transferred to Cardinal Glennon Children's Hospital
for evaluation of dysmorphism. She was born to a G2, P2, AbO, mother by spontaneous …

Brain MRI in a newborn with Zellweger syndrome: ADC quantitation in white matter disease

M Quintas-Neves, R Carvalho… - Child's Nervous …, 2018 - Springer
Dear Editor-in-Chief Professor Concezio Di Rocco: Zellweger syndrome (ZS) is the most
severe prototypical member of the peroxisome biogenesis disorders (PBDs), a disease …

Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome

F Mochel, AG Grébille, A Benachi… - American journal …, 2006 - Am Soc Neuroradiology
Zellweger syndrome (ZS), or cerebrohepatorenal syndrome, was the first described
peroxisomal biogenesis disorder. It represents the most severe phenotype, and some of its …

Germinal matrix hemorrhage in Zellweger syndrome

T Takenouchi, GP Raju - Journal of child neurology, 2010 - journals.sagepub.com
A term male newborn was noted to have severe diffuse hypotonia, hyporeflexia,
hepatosplenomegaly, and characteristic abnormal facies of Zellweger syndrome, the …

Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy

GN Wilson, RG Holmes, J Custer… - American Journal of …, 1986 - Wiley Online Library
Patients with the cerebrohepatorenal syndrome of Zellweger lack peroxisomes and certain
peroxisomal enzymes such as dihydroxyacetone phosphate acyltransferase in their tissues …

Clinicopathologic conference: A three-month-old infant with failure to thrive, hepatomegaly, and neurological impairment

A Friedman, J Bethzhold, R Hong… - … Electron Microsc Meet …, 1980 - experts.umn.edu
Abstract A 3.5-month-old white male was admitted to hospital to be evaluated for liver
disease. Birth weight was 3,000 g; occipito-frontal head circumference (OFC) was 36-37 cm …

Zellweger syndrome. Reports on two new cases

C Caceres-Marzal, J Vaquerizo-Madrid… - Revista de …, 2003 - europepmc.org
INTRODUCTION: Zellweger syndrome, or cerebrohepatorenal syndrome, is the most
serious form of the peroxisomal diseases. Clinically, it is characterised by the association …

Globoid cells, glial nodules, and peculiar fibrillary changes in the cerebro‐hepato‐renal syndrome of zellweger

GA de León, WD Grover, DS Huff… - Annals of Neurology …, 1977 - Wiley Online Library
In addition to a distinct malformation (pachymicrogyria, heterotaxic lamination of the
cerebellar cortex, olivary dysplasia), unusual degenerative changes were found in the …