Hauser C, Rojas C, Roth A, Schmied E, Saurat J H
Department of Dermatology, Hôpital Cantonal Universitaire, Geneva, Switzerland.
Eur J Pediatr. 1990 Aug;149(11):783-5. doi: 10.1007/BF01957281.
We describe a 30-year-old patient with acanthosis nigricans, diabetes mellitus with insulin resistance, hypogonadotropic hypogonadism, pigmentary degeneration of the retina and cerebellar, pyramidal and posterior columnar involvement. He had normal mental function, normal hearing and no hexadactyly. The patient had symptoms of both Bardet-Biedl and Alström syndromes, but did not manifest all the main features of either syndrome. This suggests either that the Bardet-Biedl, Alström, Laurence-Moon syndromes (including the variant described by Edwards) have a highly variable expression or that our case is a new variant within this group of syndromes.
我们描述了一名30岁的患者，患有黑棘皮病、伴有胰岛素抵抗的糖尿病、低促性腺激素性性腺功能减退、视网膜色素变性以及小脑、锥体束和后索受累。他智力功能正常，听力正常，无多指（趾）畸形。该患者具有巴德-比埃尔综合征和阿尔斯特伦综合征的症状，但未表现出这两种综合征的所有主要特征。这表明巴德-比埃尔综合征、阿尔斯特伦综合征、劳伦斯-穆恩综合征（包括爱德华兹描述的变异型）具有高度可变的表现形式，或者我们的病例是这组综合征中的一种新变异型。
