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From the Eunice K. Shriver Center for Mental Retardation (Drs. Williams and Caviness), Waltham, MA Neurology Service (Drs. Williams, Jennings, and Caviness), Massachusetts General Hospital, Boston; Neurology Division (Dr. Swisher), Department of Pediatrics, Michael Reese Hospital, Chicago; and Department of Pathology (Dr. Ambler), Section of Neuropathology, Rhode Island Hospital, Providence, RI.
We studied three cases (two of them siblings) with ocular and cerebral dysgenesis (Walker-Warburg syndrome). The histologic changes suggest that the disorder results from a sclerosing meningoencephalitis active through the second and third trimesters, but different from that typically encountered with known congenital pathogens. This illness was encountered first in the 1930s and has been reported with increasing frequency since 1970. The risk of recurrence among siblings exceeds 50%, with a predilection for involving consecutive siblings, a high incidence of reproductive failure, and no transmission across generations. The evidence suggests that an acquired agent may be transmitted transplacentally through consecutive pregnancies.
Address correspondence and reprint requests to Dr. Williams, Shriver Center, 200 Trapelo Road, Waltham, MA 02154.
Accepted for publication March 14, 1984.
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