BOUCHER-NEUHAUSER SYNDROME-ASSOCIATED WITH HYPOCALCIURIC HYPERCALCEMIA

A 52-year-old woman was diagnosed as having cerebellar ataxia, hypogon adotropic hypogonadism and retinochoroidal degeneration, the so-called , ''Boucher-Neuhauser'' syndrome proposed by Limber et al (Am J Med Ge net 33: 409, 1989). In addition, laboratory findings showed the elevat ion of serum calcium (Ca) levels, low urinary Ca excretion, and exagge rated reabsorption of filtrated Ca (FECa:0.14%), suggesting complicati on of hypocalciuric hypercalcemia. This is a very rare case of Boucher -Neuhauser syndrome associated with hypocalciuric hypercalcemia.