Neurology
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

This Article
Right arrow Figures Only
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Correspondence:
Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when Correspondence are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Barth, P. G.
Right arrow Articles by Poll-The, B. T.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Barth, P. G.
Right arrow Articles by Poll-The, B. T.
Related Collections
Right arrow All Imaging
Right arrow MRI
Right arrow Metabolic disease (inherited)
Right arrow Peroxisomes
NEUROLOGY 2004;62:439-444
© 2004 American Academy of Neurology

Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival

P. G. Barth, MD, C. B.L.M. Majoie, MD, J. Gootjes, MSc, R. J.A. Wanders, PhD, H. R. Waterham, PhD, M. S. van der Knaap, MD, J. B.C. de Klerk, MD, J. Smeitink, MD and B. T. Poll-The, MD

From the Departments of Pediatric Neurology (Drs. Barth and Poll-The) and Pediatrics (Drs. Wanders and Waterham, J. Gootjes) and the Laboratory of Genetic Metabolic Disease (Drs. Wanders and Waterham, J. Gootjes), Emma Children’s Hospital, and the Department of Radiology (Dr. Majoie), Academic Medical Center, University of Amsterdam; the Department of Child Neurology (Dr. van der Knaap), Vrije Universiteit Medical Center, Amsterdam; the Department of Pediatrics, Sofia Children’s Hospital (Dr. de Klerk), Erasmus MC-University Medical Center, Rotterdam; and the Department of Pediatrics (Dr. Smeitink), University Medical Center Nijmegen, the Netherlands.

Address correspondence and reprint requests to Prof. Dr. Peter G. Barth, Department of Pediatric Neurology, Emma Children’s Hospital/AMC, Room H8-241, P.O. Box 22700, 1100 DE Amsterdam, the Netherlands; e-mail: p.g.barth{at}amc.uva.nl

Objective: To define neuroimaging characteristics of peroxisome biogenesis disorders (PBD) with prolonged survival belonging to the Zellweger spectrum (ZeS).

Methods: The authors studied MR images of 25 patients surviving the first year. Neuroimages were compared to neurologic profiles, PBD-ZeS specific compound developmental scores, and two common PEX1 mutations.

Results: Three groups are defined based on normal findings, developmental anomalies, and regressive changes. Regressive changes consisting of leukoencephalopathy were identified in patients who had either stable clinical course or progressive deterioration. Concomitant neocortical atrophy was encountered in a minority. Leukoencephalopathy with stable clinical course represents the largest subgroup (48%). The authors found the central cerebellar white matter a focus for early changes in both asymptomatic and symptomatic leukoencephalopathy. A relationship between white matter involvement in clinically stable leukoencephalopathy and degree of developmental failure could not be established. The common homozygous PEX1 G843D mutation is represented in the three main outcome groups. This result points to variable phenotypic expression of the most common PEX1 mutation.

Conclusions: MR findings in ZeS patients surviving the first year differ from Zellweger syndrome in predominance of regressive over developmental changes. Distribution pattern suggests identical pathomechanisms for symptomatic and asymptomatic leukoencephalopathy.

Received September 8, 2003. Accepted in final form October 17, 2003.






HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2004 by AAN Enterprises, Inc.