TY - JOUR
T1 - Boucher-Neuhauser Syndrome Associated with Hypocalciuric Hypercalcemia
AU - Ichinose, Mayuri
AU - Tojo, Katsuyoshi
AU - Nakayama, Masaaki
AU - Hasegawa, Takashi
AU - Kawaguchi, Yoshindo
PY - 1995
Y1 - 1995
N2 - 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).
AB - 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).
KW - cerebellar ataxia
KW - estrogen
KW - hypogonadotropic hypogonadism
KW - osteoporosis
KW - retinochoroidal degeneration
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U2 - 10.2169/internalmedicine.34.18
DO - 10.2169/internalmedicine.34.18
M3 - Article
C2 - 7718973
AN - SCOPUS:0029182922
VL - 34
SP - 18
EP - 23
JO - Internal Medicine
JF - Internal Medicine
SN - 0918-2918
IS - 1
ER -