Ingster-Moati I, Rigaudiere F, Choltus-De Petigny M C, Bremond-Gignac D, Lestrade C, Grall Y
Service Central de Biophysique et de Médecine Nucléaire, Explorations fonctionnelles visuelles, Hôpital Lariboisière, 2, rue A. Paré, 75010 Paris.
J Fr Ophtalmol. 2000 Oct;23(8):802-8.
Laurence-Moon syndrome, which is very rare, and Bardet-Biedl syndrome, which is more frequent are now well-recognized as two distinct entities in pediatric neurology. Bardet-Biedl syndrome includes a number of common clinical signs it shares with Laurence-Moon syndrome but also with other syndromes, particularly Alströme syndrome. These signs are retinitis pigmentosa, mental retardation, obesity, and hypogonadism. Ophthalmological and electrophysiological examinations are essential for confirmation and correct diagnosis of Bardet-Biedl syndrome. We present three case histories. Our third case illustrates the possibility of below normal yet discernable electroretinogram amplitudes which do not infirm the diagnosis of Bardet-Biedl syndrome.
劳伦斯-穆恩综合征非常罕见,而更为常见的巴德-比德尔综合征如今在小儿神经学领域已被明确视为两种不同的病症。巴德-比德尔综合征包含一些与劳伦斯-穆恩综合征共有的常见临床体征,但也与其他综合征,尤其是阿尔斯特伦综合征有共同体征。这些体征包括色素性视网膜炎、智力发育迟缓、肥胖和性腺功能减退。眼科和电生理检查对于巴德-比德尔综合征的确诊和正确诊断至关重要。我们展示三个病例史。我们的第三个病例说明了视网膜电图振幅低于正常水平但仍可辨别的可能性,这并不影响巴德-比德尔综合征的诊断。