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: M Ichinose, K Tojo, M Nakayama, T Hasegawa, Y Kawaguchi, O Sakai
• Journal: Internal medicine (Tokyo, Japan) (Intern Med) Vol. 34 Issue 1 Pg. 18-23 (Jan 1995) ISSN: 0918-2918 [Print] Japan
• PMID: 7718973 (Publication Type: Case Reports, Journal Article)

Chemical References

• Calcium

Topics

• Calcium (deficiency, urine)
• Calcium Metabolism Disorders (etiology)
• Cerebellar Ataxia (complications)
• Choroid Diseases (complications)
• Female
• Humans
• Hypercalcemia (complications)
• Hypogonadism (complications)
• Middle Aged
• Retinal Degeneration (complications)