Boucher-Neuhauser syndrome associated with hypocalciuric hypercalcemia.
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.
Ichinose
M
M
Second Department of Internal Medicine, Jikei University School of Medicine, Tokyo.
Tojo
K
K
Nakayama
M
M
Hasegawa
T
T
Kawaguchi
Y
Y
Sakai
O
O
D002118:Calcium / Q000172:deficiency / Q000652:urine*; D002128:Calcium Metabolism Disorders / Q000209:etiology*; D002524:Cerebellar Ataxia / Q000150:complications*; D015862:Choroid Diseases / Q000150:complications*; D005260:Female; D006801:Humans; D006934:Hypercalcemia / Q000150:complications*; D007006:Hypogonadism / Q000150:complications*; D008875:Middle Aged; D012162:Retinal Degeneration / Q000150:complications*
D002118:Calcium