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.

The Walker‐Warburg or a new syndrome?

“…A patient with a temporal lobe cyst lined with ependyma, separate from the ventricular system was noted in the Dobyns series (Dobyns et al 1989) and there have been at least 2 cases of porencephaly. One is the patient 3 in the Kitnura 1993 report, and the other is patient 6 in the Dutch study reported by Leyten et al (1992).…”

Muscle and brain disease: an update

“…It is claimed that this disorder is differentiated from the Fukuyama type of congenital muscular dystrophy by spasticity, high visual evoked potentials and ocular abnormalities (Santavuori et al 1989). Leyten et al (1992) report six patients from four Dutch families with muscle, eye and brain disease. Progression of the disease was rapid in five of the children.…”

Assignment of the Muscle-Eye-Brain Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping

“…Worldwide, ∼30 patients with MEB have been reported, the majority from Finland, where the incidence of this disorder is estimated to be !1:50,000. Outside Finland, ∼10 sporadic cases bearing a close resemblance to MEB have been described (Korinthenberg et al 1984;Echenne et al 1986;Mielke et al 1986;Federico et al 1988;Leyten et al 1992;Topaloglu et al 1995;van der Knaap et al 1997).…”