MUSCLE INVOLVEMENT IN WALKER-WARBURG SYNDROME - CLINICOPATHOLOGICAL FEATURES OF 4 CASES

Walker-Warburg syndrome is a lethal autosomal recessive disorder chara cterized by anomalies of the central nervous system and the eye. Recen tly, elevation of muscle enzymes and congenital muscular dystrophy hav e been found to contribute to the diagnosis of this syndrome. The auth ors studied two pairs of siblings with Walker-Warburg syndrome, offspr ing of consanguineous parents from two unrelated families. The patient s had hydrocephalus, congenital glaucoma, elevated muscle enzymes, and hypotonicity. The histologic and ultrastructural muscular changes wer e consistent with congenital muscular dystrophy.