Ichinose M, Tojo K, Nakayama M, Hasegawa T, Kawaguchi Y, Sakai O
Second Department of Internal Medicine, Jikei University School of Medicine, Tokyo.
Intern Med. 1995 Jan;34(1):18-23. doi: 10.2169/internalmedicine.34.18.
A 52-year-old woman was diagnosed as having cerebellar ataxia, hypogonadotropic hypogonadism and retinochoroidal degeneration, the so-called, "Boucher-Neuhauser" syndrome proposed by Limber et al (Am J Med Genet 33:409, 1989). In addition, laboratory findings showed the elevation of serum calcium (Ca) levels, low urinary Ca excretion, and exaggerated reabsorption of filtrated Ca (FECa:0.14%), suggesting complication of hypocalciuric hypercalcemia. This is a very rare case of Boucher-Neuhauser syndrome associated with hypocalciuric hypercalcemia.
一名52岁女性被诊断患有小脑共济失调、低促性腺激素性性腺功能减退和视网膜脉络膜变性，即Limber等人（《美国医学遗传学杂志》33:409，1989年）提出的所谓“布歇-诺伊豪泽”综合征。此外，实验室检查结果显示血清钙（Ca）水平升高、尿钙排泄减少以及滤过钙的重吸收增加（FECa:0.14%），提示合并低钙尿性高钙血症。这是一例非常罕见的与低钙尿性高钙血症相关的布歇-诺伊豪泽综合征病例。
