Aggarwal Harikrishan K, Jain Deepak, Yadav Sachin, Kaverappa Vipin, Gupta Abhishek
Department of Medicine, Pt. B.D. Sharma University Of Health Sciences, Rohtak-124001 (Haryana) India.
Eurasian J Med. 2013 Jun;45(2):128-31. doi: 10.5152/eajm.2013.25.
Senior-Loken syndrome refers to a disorder in which there is a combination of nephronophthisis and retinal dystrophy. The earliest presenting signs of the renal component are polyuria and polydipsia secondary to defective urinary concentrating ability. Nephronophthisis progresses to end-stage renal disease during the second decade. The retinal lesions are variable, ranging from severe infantile onset retinal dystrophy to more typical retinitis pigmentosa. There is a spectrum of other associated features, including skeletal, dermatological and cerebellar anomalies, observed in this entity. Here, we report a case of Senior-Loken syndrome associated with small hand (short metacarpals) and madarosis. To date, there are no cases reported in the literature describing the association of madarosis with this syndrome, and the presence of small hands has been reported only once.
Senior-Loken综合征是一种肾单位肾痨与视网膜营养不良并存的疾病。肾脏病变最早出现的症状是由于尿液浓缩功能缺陷导致的多尿和烦渴。肾单位肾痨在第二个十年发展为终末期肾病。视网膜病变多种多样，从严重的婴儿期发病的视网膜营养不良到更典型的色素性视网膜炎。在这个疾病中还观察到一系列其他相关特征，包括骨骼、皮肤和小脑异常。在此，我们报告一例伴有小手（掌骨短）和睫毛脱落的Senior-Loken综合征病例。迄今为止，文献中尚无关于睫毛脱落与该综合征关联的报道，小手的情况仅被报道过一次。
