title: Congenital muscular dystrophy with eye and brain malformations in six Dutch patients.
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.
authors: Centre for Child Neurology, University Hospital Nijmegen, The Netherlands.
authors: Q H
authors: QH
authors: Leyten
authors: F J
authors: FJ
authors: Gabreëls
authors: W O
authors: WO
authors: Renier
authors: K
authors: K
authors: Renkawek
authors: H J
authors: HJ
authors: ter Laak
authors: R A
authors: RA
authors: Mullaart
mesh_terms: D001921:Brain / Q000002:abnormalities* / Q000473:pathology / Q000648:ultrastructure; D002531:Cerebellum / Q000473:pathology; D002675:Child, Preschool; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000151:congenital* / Q000175:diagnosis / Q000473:pathology