GAPO-SYNDROME - REPORT ON THE FIRST CASE IN JAPAN

We studied a 3.5-year-old Japanese boy with growth retardation, alopec ia, pseudoanodontia, and bilateral papilledema. He was born of noncons anguineous parents, but his paternal grandparents were related. From h is characteristic physical manifestations, we diagnosed him as the fir st known case of GAPO syndrome in Japan and perhaps in the Mongoloid r ace. Our case had prominent dilatation of scalp veins and an audible i ntracranial bruit. Cranial angiography documented a narrowing of the s igmoid sinuses, with no flow to either jugular vein. We discuss here t he relationships between optic atrophy and intracranial vascular chang es in this syndrome. (C) 1995 Wiley-Liss, Inc.