Document Detail


Boucher-Neuhauser syndrome associated with hypocalciuric hypercalcemia.
MedLine Citation:
PMID:  7718973     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Internal medicine (Tokyo, Japan)     Volume:  34     ISSN:  0918-2918     ISO Abbreviation:  Intern. Med.     Publication Date:  1995 Jan 
Date Detail:
Created Date:  1995-05-23     Completed Date:  1995-05-23     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9204241     Medline TA:  Intern Med     Country:  JAPAN    
Other Details:
Languages:  eng     Pagination:  18-23     Citation Subset:  IM    
Affiliation:
Second Department of Internal Medicine, Jikei University School of Medicine, Tokyo.
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MeSH Terms
Descriptor/Qualifier:
Calcium / deficiency,  urine*
Calcium Metabolism Disorders / etiology*
Cerebellar Ataxia / complications*
Choroid Diseases / complications*
Female
Humans
Hypercalcemia / complications*
Hypogonadism / complications*
Middle Aged
Retinal Degeneration / complications*
Chemical
Reg. No./Substance:
7440-70-2/Calcium

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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