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).
Original language | English |
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Pages (from-to) | 18-23 |
Number of pages | 6 |
Journal | Internal Medicine |
Volume | 34 |
Issue number | 1 |
DOIs | |
Publication status | Published - 1995 |
Keywords
- cerebellar ataxia
- estrogen
- hypogonadotropic hypogonadism
- osteoporosis
- retinochoroidal degeneration
ASJC Scopus subject areas
- Internal Medicine