WALKER-WARBURG-SYNDROME - NEUROLOGIC FEATURES AND MUSCLE MEMBRANE-STRUCTURE

Walker-Warburg syndrome is an autosomal-recessive genetic disorder cha racterized by congenital muscular dystrophy in association with comple x developmental abnormalities of the central nervous system and tile e yes. Two patients with Walker-Warburg syndrome are presented to demons trate clinical variability. Previously unreported pathologic findings involving heart, muscle, spinal cord, and gall bladder are described, and the literature is reviewed. Histopathologic studies of the muscle membrane protein network in both Walker-Warburg syndrome patients reve al a decreased immunostaining for laminin alpha 2 and beta-dystroglyca n. The clinical, histologic, and biochemical variability in Walker-War burg patients may reflect heterogencity. (C) 1995 by Elsevier Science Inc. All rights reserved.