TY - JOUR
T1 - Congenital muscular dystrophy with complete laminin-α2-deficiency, cortical dysplasia, and cerebral white-matter changes in children
AU - Tsao, Chang Yong
AU - Mendell, Jerry R.
AU - Rusin, Jerome
AU - Luquette, Mark
N1 - Copyright:
Copyright 2018 Elsevier B.V., All rights reserved.
PY - 1998/6
Y1 - 1998/6
N2 - Congenital muscular dystrophy consists of Fukuyama congenital muscular dystrophy, Walker-Warburg syndrome, muscle-eye-brain disease, and occidental congenital muscular dystrophy, which is further divided into laminin-α2- positive and laminin-α2-negative subgroups. These forms of congenital muscular dystrophy are frequently associated with abnormal white-matter changes, whereas the Fukuyama form, Walker-Warburg syndrome, and muscle-eye- brain disease are also frequently found to have polymicrogyria. We now report two infants with complete laminin-α2-deficiency who have not only abnormal cerebral white-matter lesions, but also bioccipital polymicrogyria. There are significant similarities in the clinical and cerebral manifestations among the various types of congenital muscular dystrophy. The diagnosis of the Fukuyama form, laminin-α2-deficiency, Walker-Warburg syndrome, and muscle- eye-brain disease cannot always be established on radiological studies alone.
AB - Congenital muscular dystrophy consists of Fukuyama congenital muscular dystrophy, Walker-Warburg syndrome, muscle-eye-brain disease, and occidental congenital muscular dystrophy, which is further divided into laminin-α2- positive and laminin-α2-negative subgroups. These forms of congenital muscular dystrophy are frequently associated with abnormal white-matter changes, whereas the Fukuyama form, Walker-Warburg syndrome, and muscle-eye- brain disease are also frequently found to have polymicrogyria. We now report two infants with complete laminin-α2-deficiency who have not only abnormal cerebral white-matter lesions, but also bioccipital polymicrogyria. There are significant similarities in the clinical and cerebral manifestations among the various types of congenital muscular dystrophy. The diagnosis of the Fukuyama form, laminin-α2-deficiency, Walker-Warburg syndrome, and muscle- eye-brain disease cannot always be established on radiological studies alone.
UR - http://www.scopus.com/inward/record.url?scp=0031659647&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0031659647&partnerID=8YFLogxK
U2 - 10.1177/088307389801300602
DO - 10.1177/088307389801300602
M3 - Article
C2 - 9660506
AN - SCOPUS:0031659647
SN - 0883-0738
VL - 13
SP - 253
EP - 256
JO - Journal of Child Neurology
JF - Journal of Child Neurology
IS - 6
ER -