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Neuropediatrics 1992; 23(6): 316-320
DOI: 10.1055/s-2008-1071365
Original article

© Georg Thieme Verlag KG Stuttgart · New York

Congenital Muscular Dystrophy with Eye and Brain Malformations in Six Dutch Patients*

Q. H. Leyten1 , F.J. M. Gabreëls1 , W. O. Renier1 , K.  Renkawek2 , H. J. ter Laak2 , R. A. Mullaart1
  • 1Centre for Child Neurology, University Hospital Nijmegen, P. O. Box 9101, 6500 HB Nijmegen, The Netherlands
  • 2Research Laboratory of Morphological Neurology, University Hospital Nijmegen, P. O. Box 9101, 6500 HB Nijmegen, The Netherlands
* This investigation is part of the research program "Disorders of the Neuromuscular System" of the University of Nijmegen.
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Publikationsdatum:
19. März 2008 (online)

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Abstract

From four Dutch families six patients, who have congenital muscular dystrophy, involvement of the central nervous system and of the eyes, or the so-called "muscle, eye and brain disease" (MEB-D), are reported. Two patients are still alive, in four autopsy could be performed. The clinical and morphological data of our patients are compared to those described in recent literature. The progression of the disease was rapid in five of our six patients. Our study supports the idea that within the MEB-D syndrome there are at least two different types of clinical expression, one with a rapid progression as described by Dobyns et al 1989 (9) and one with a slower progression as described in most patients of Santavuori et al 1989 (23). The study also confirms the autosomal recessive mode of inheritance of MEB-D.

Key words

Congenital muscular dystrophy - Muscle-eye-brain disease - Clinical course - Pathology