X-LINKED AQUEDUCTAL STENOSIS: CLINICAL AND NEUROPATHOLOGICAL FINDINGS IN TWO FAMILIES
Lewis B. Holmes M.D.1,
Andrea Nash M.D.1,
Gabriele M. ZuRhein M.D.1,
Michael Levin M.D.1, and
John M. Opitz M.D.1
1 Genetics Unit of the Children's Service and the Department of Neurology-Neuropathology, Massachusetts General Hospital, and the Departments of Pediatrics and Neurology, Harvard Medical School, Boston; the Departments of Pathology, Pediatrics, and Medical Genetics, University of Wisconsin Medical Center, Madison, Wisconsin
Significant variation in the neuropathological abnormalities associated with X-linked aqueductal stenosis has been found in males from two unrelated families. Family A is the first reported family with this disorder. A recently born male infant had stenosis and forking of the aqueduct, whereas his uncle had only stenosis. In family B one male had extensive midline fusion of the thalami in addition to aqueductal stenosis and forking. These findings of phenotypic variability indicate broader criteria for establishing the diagnosis of X-linked recessive aqueductal stenosis.
Submitted on August 25, 1972
Accepted on November 30, 1972
