Muscle involvement in Walker-Warburg syndrome. Clinicopathologic features of four cases

Walker-Warburg syndrome is a lethal autosomal recessive disorder characterized by anomalies of the central nervous system and the eye. Recently, elevation of muscle enzymes and congenital muscular dystrophy have been found to contribute to the diagnosis of this syndrome. The authors studied two pair...

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Bibliographic Details
Published in:	American journal of clinical pathology Vol. 100; no. 5; p. 493
Main Authors:	Lichtig, C, Ludatscher, R M, Mandel, H, Gershoni-Baruch, R
Format:	Journal Article
Language:	English
Published:	England 01-11-1993
Subjects:	Brain - abnormalities Child Child, Preschool Consanguinity Eye Abnormalities - complications Eye Abnormalities - pathology Female Humans Infant Male Muscles - abnormalities Muscles - enzymology Muscles - ultrastructure Muscular Dystrophies - complications Muscular Dystrophies - congenital Muscular Dystrophies - pathology Nuclear Family
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Summary:	Walker-Warburg syndrome is a lethal autosomal recessive disorder characterized by anomalies of the central nervous system and the eye. Recently, elevation of muscle enzymes and congenital muscular dystrophy have been found to contribute to the diagnosis of this syndrome. The authors studied two pairs of siblings with Walker-Warburg syndrome, offspring of consanguineous parents from two unrelated families. The patients had hydrocephalus, congenital glaucoma, elevated muscle enzymes, and hypotonicity. The histologic and ultrastructural muscular changes were consistent with congenital muscular dystrophy.
ISSN:	0002-9173
DOI:	10.1093/ajcp/100.5.493