Moriya N, Mitsui T, Shibata T, Yamaguchi K, Kanazawa C, Matsunaga A, Hayasaka K
Department of Pediatrics, Yamagata University School of Medicine, Japan.
Am J Med Genet. 1995 Sep 11;58(3):257-61. doi: 10.1002/ajmg.1320580312.
We studied a 3.5-year-old Japanese boy with growth retardation, alopecia, pseudoanodontia, and bilateral papilledema. He was born of nonconsanguineous parents, but his paternal grandparents were related. From his characteristic physical manifestations, we diagnosed him as the first known case of GAPO syndrome in Japan and perhaps in the Mongoloid race. Our case had prominent dilatation of scalp veins and an audible intracranial bruit. Cranial angiography documented a narrowing of the sigmoid sinuses, with no flow to either jugular vein. We discuss here the relationships between optic atrophy and intracranial vascular changes in this syndrome.
我们研究了一名3.5岁的日本男孩，他患有生长发育迟缓、脱发、假性无牙症和双侧视乳头水肿。他的父母非近亲结婚，但他的祖父母是近亲。根据其特征性的临床表现，我们诊断他为日本首例、可能也是蒙古人种首例已知的GAPO综合征病例。我们的病例有头皮静脉明显扩张和可闻及的颅内杂音。头颅血管造影显示乙状窦狭窄，双侧颈静脉均无血流。我们在此讨论该综合征中视神经萎缩与颅内血管变化之间的关系。
