Boucher-Neuhauser Syndrome Associated with Hypocalciuric Hypercalcemia.
Open Access
- 1 January 1995
- journal article
- case report
- Published by Japanese Society of Internal Medicine in Internal Medicine
- Vol. 34 (1) , 18-23
- https://doi.org/10.2169/internalmedicine.34.18
Abstract
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)Keywords
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