A PAIR OF SIBLINGS WITH ADIPOSO-GENITAL DYSTROPHY (REPRINTED 1922)
A PAIR OF SIBLINGS WITH ADIPOSO-GENITAL DYSTROPHY (REPRINTED 1922)
复制标题
DOI：
10.1002/j.1550-8528.1995.tb00167.x
复制
发表时间：
1995-07-01
期刊：
影响因子：
--
通讯作者：
BIEDL, A
中科院分区：
文献类型：
--
作者：
BIEDL, A
Biedl在第三个病例的插图旁边展示了一对患有脂肪-生殖器营养不良的兄弟姐妹。脑垂体的改变以及脑肿瘤或病理性脑压的征象完全不存在，先天性畸形（视网膜色素变性、多指畸形和肛门闭锁）以及大脑发育障碍的特征性征象，其主要表现是存在一种不寻常的智力迟钝。特别是在一种情况下，可以检测到气体交换的简化原理。非常不寻常的消化不良。这种新的症状复合体可以追溯到大脑的主要发育障碍，特别是恢复后的大脑区域的代谢中心。它将被视为纯粹的假说和纯粹的大脑形式的一种致病极端。因为在大量的脂肪性生殖营养不良的病例中，可以接受的是，发病的原因是垂体或附近的肿瘤，或者是一侧垂体和另一侧中脑的病理性脑压力。当中间分泌物的刺激性不能释放其对中脑中枢的影响，或者中脑中枢本身的运作受到干扰时，同样的功能障碍也会发生。一个类似的评估也要求尿崩症可以发生，作为纯粹的垂体或纯粹的大脑，通过破坏控制水中心的电影结节领域。
Biedl showed a pair of siblings with adiposo-genital dystrophy next to the illustration of a third case. Alteration in the hypophysis as well as signs of a brain tumor or pathological brain pressure are completely absent and congenital deformations (retinitis pigmentosa, polydactyly, and anal atresia), as well as characteristic signs of an obstruction of cerebral development, of which the main point expresses itself in the existence of an unusual intellectual torpidity. In one case in particular the reduced principle of the gas exchange is detectable. Strikingly unusual indigestion. This new symptom complex will be traced back to a primary developmental obstacle of the brain and especially of the metabolic center of recovered brain region. It will be placed as a pathogenetic extreme of the pure hypophyses and pure cerebral form. For among the greater number of cases of adiposo genital dystrophy, it will be accepted that the pathogenetic momen, is a tumor of the hypophyses or in that neighborhood, or a pathological brain pressure of the hypophyses on one side, and of the mid brain on the other side. The same malfunction takes place when the irritant of the intermediary secretions doesn’t unleash its effect on the midbrain center or when this center itself becomes disrupted in its operation. An analogous assessment demands also that the diabetes insipidus can occur, as purely hypophyseal or purely cerebral, through the disruption of the realm of the Tubercle cinereum which regulates water centers.