title: Boucher-Neuhauser syndrome associated with hypocalciuric hypercalcemia.
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.
authors.affiliation: Second Department of Internal Medicine, Jikei University School of Medicine, Tokyo.
authors.forename: M
authors.initials: M
authors.lastname: Ichinose
authors.forename: K
authors.initials: K
authors.lastname: Tojo
authors.forename: M
authors.initials: M
authors.lastname: Nakayama
authors.forename: T
authors.initials: T
authors.lastname: Hasegawa
authors.forename: Y
authors.initials: Y
authors.lastname: Kawaguchi
authors.forename: O
authors.initials: O
authors.lastname: Sakai
mesh_terms: 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*
chemical_list: D002118:Calcium