Matsuzaka T, Sakuragawa N, Nakayama H, Sugai K, Kohno Y, Arima M
J Child Neurol. 1986 Oct;1(4):338-46. doi: 10.1177/088307388600100404.
Three children with Leber's congenital amaurosis, agenesis of the cerebellar vermis, and infantile polycystic kidneys are described. The common clinical findings of three unrelated patients (two boys and one girl) included severe visual impairment from early infancy, profound psychomotor retardation, hypotonia, nystagmus, characteristic facial appearance with blepharoptosis, and progressive chronic renal insufficiency. The two boys died of uremia at ages 13 and 12 years. The common pathological findings in these two patients consisted of minor disproportions of cerebral lobes, almost total aplasia of the cerebellar vermis, micropolygyria of the dentate nuclei, malformations of the brain stem (including pachygyria of the inferior olivary nuclei and partial absence and anomalous position of the pyramidal tracts), and infantile polycystic kidneys; there was fatty liver in one case and hepatic fibrosis in the other. The clinicopathological findings of our two patients were entirely compatible with those of patients previously reported by Arima and other Japanese authors. Therefore, these patients seem to comprise a distinct clinicopathological entity, cerebro-oculo-hepato-renal syndrome (Arima's syndrome), different from other syndromes with retinal, cerebellar, and renal abnormalities.
本文描述了三名患有莱伯先天性黑蒙、小脑蚓部发育不全和婴儿型多囊肾的儿童。三名无亲缘关系的患者（两名男孩和一名女孩）的常见临床表现包括自幼严重视力障碍、严重精神运动发育迟缓、肌张力低下、眼球震颤、具有上睑下垂的特征性面容以及进行性慢性肾功能不全。两名男孩分别于13岁和12岁死于尿毒症。这两名患者的常见病理表现包括脑叶轻度比例失调、小脑蚓部几乎完全发育不全、齿状核微多小脑回、脑干畸形（包括下橄榄核巨脑回以及锥体束部分缺如和位置异常）以及婴儿型多囊肾；其中一例有脂肪肝，另一例有肝纤维化。我们这两名患者的临床病理表现与有马及其他日本作者先前报道的患者完全相符。因此，这些患者似乎构成了一种独特的临床病理实体，即脑-眼-肝-肾综合征（有马综合征），与其他伴有视网膜、小脑和肾脏异常的综合征不同。
