Connatal Pelizaeus-Merzbacher disease in two girls

Authors
Ziereisen, F Dan, B Christiaens, F Deltenre, P Boutemy, R Christophe, C
Citation
F. Ziereisen et al., Connatal Pelizaeus-Merzbacher disease in two girls, PEDIAT RAD, 30(7), 2000, pp. 435-438
Citations number
30
Categorie Soggetti
Radiology ,Nuclear Medicine & Imaging
Journal title
PEDIATRIC RADIOLOGY
ISSN journal
03010449 → ACNP
Volume
30
Issue
7
Year of publication
2000
Pages
435 - 438
Database
ISI
SICI code
0301-0449(200007)30:7<435:CPDITG>2.0.ZU;2-#
Abstract
We report the clinical, radiological and electrophysiological signs in two unrelated girls with the connatal form of Pelizaeus-Merzbacher disease (PMD ). MRI plays an important role in the diagnosis, demonstrating the virtual absence of myelination. PMD is classically described as an X-linked leukody strophy. Our two cases reinforce the hypothesis of a possible autosomal rec essive transmission of the connatal form of PMD in some families, as recent ly presented.