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. (Internal Medicine 34: 18-23, 1995).
- cerebellar ataxia
- hypogonadotropic hypogonadism
- retinochoroidal degeneration
ASJC Scopus subject areas
- Internal Medicine